StemCell Therapy

ANDOVER, Mass. The liquid that many hope could help end the Covid-19 pandemic is stored in a nondescript metal tank in a manufacturing complex owned by Pfizer, one of the worlds biggest drug companies. There is nothing remarkable about the container, which could fit in a walk-in closet, except that its contents could end up in the worlds first authorized Covid-19 vaccine.

Pfizer, a 171-year-old Fortune 500 powerhouse, has made a billion-dollar bet on that dream. So has a brash, young rival just 23 miles away in Cambridge, Mass. Moderna, a 10-year-old biotech company with billions in market valuation but no approved products, is racing forward with a vaccine of its own. Its new sprawling drug-making facility nearby is hiring workers at a fast clip in the hopes of making history and a lot of money.

In many ways, the companies and their leaders couldnt be more different. Pfizer, working with a little-known German biotech called BioNTech, has taken pains for much of the year to manage expectations. Moderna has made nearly as much news for its stream of upbeat press releases, executives stock sales, and spectacular rounds of funding as for its science.

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Each is well-aware of the other in the race to be first.

But what the companies share may be bigger than their differences: Both are banking on a genetic technology that has long held huge promise but has so far run into biological roadblocks. It is called synthetic messenger RNA, an ingenious variation on the natural substance that directs protein production in cells throughout the body. Its prospects have swung billions of dollars on the stock market, made and imperiled scientific careers, and fueled hopes that it could be a breakthrough that allows society to return to normalcy after months living in fear.

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Both companies have been frequently name-checked by President Trump. Pfizer reported strong, but preliminary, data on Monday, and Moderna is expected to follow suit soon with a glimpse of its data. Both firms hope these preliminary results will allow an emergency deployment of their vaccines millions of doses likely targeted to frontline medical workers and others most at risk of Covid-19.

There are about a dozen experimental vaccines in late-stage clinical trials globally, but the ones being tested by Pfizer and Moderna are the only two that rely on messenger RNA.

For decades, scientists have dreamed about the seemingly endless possibilities of custom-made messenger RNA, or mRNA.

Researchers understood its role as a recipe book for the bodys trillions of cells, but their efforts to expand the menu have come in fits and starts. The concept: By making precise tweaks to synthetic mRNA and injecting people with it, any cell in the body could be transformed into an on-demand drug factory.

But turning scientific promise into medical reality has been more difficult than many assumed. Although relatively easy and quick to produce compared to traditional vaccine-making, no mRNA vaccine or drug has ever won approval.

Even now, as Moderna and Pfizer test their vaccines on roughly 74,000 volunteers in pivotal vaccine studies, many experts question whether the technology is ready for prime time.

I worry about innovation at the expense of practicality, Peter Hotez, dean of the National School of Tropical Medicine at Baylor College of Medicine and an authority on vaccines, said recently. The U.S. governments Operation Warp Speed program, which has underwritten the development of Modernas vaccine and pledged to buy Pfizers vaccine if it works, is weighted toward technology platforms that have never made it to licensure before.

Whether mRNA vaccines succeed or not, their path from a gleam in a scientists eye to the brink of government approval has been a tale of personal perseverance, eureka moments in the lab, soaring expectations and an unprecedented flow of cash into the biotech industry.

It is a story that began three decades ago, with a little-known scientist who refused to quit.

Before messenger RNA was a multibillion-dollar idea, it was a scientific backwater. And for the Hungarian-born scientist behind a key mRNA discovery, it was a career dead-end.

Katalin Karik spent the 1990s collecting rejections. Her work, attempting to harness the power of mRNA to fight disease, was too far-fetched for government grants, corporate funding, and even support from her own colleagues.

It all made sense on paper. In the natural world, the body relies on millions of tiny proteins to keep itself alive and healthy, and it uses mRNA to tell cells which proteins to make. If you could design your own mRNA, you could, in theory, hijack that process and create any protein you might desire antibodies to vaccinate against infection, enzymes to reverse a rare disease, or growth agents to mend damaged heart tissue.

In 1990, researchers at the University of Wisconsin managed to make it work in mice. Karik wanted to go further.

The problem, she knew, was that synthetic RNA was notoriously vulnerable to the bodys natural defenses, meaning it would likely be destroyed before reaching its target cells. And, worse, the resulting biological havoc might stir up an immune response that could make the therapy a health risk for some patients.

It was a real obstacle, and still may be, but Karik was convinced it was one she could work around. Few shared her confidence.

Every night I was working: grant, grant, grant, Karik remembered, referring to her efforts to obtain funding. And it came back always no, no, no.

By 1995, after six years on the faculty at the University of Pennsylvania, Karik got demoted. She had been on the path to full professorship, but with no money coming in to support her work on mRNA, her bosses saw no point in pressing on.

She was back to the lower rungs of the scientific academy.

Usually, at that point, people just say goodbye and leave because its so horrible, Karik said.

Theres no opportune time for demotion, but 1995 had already been uncommonly difficult. Karik had recently endured a cancer scare, and her husband was stuck in Hungary sorting out a visa issue. Now the work to which shed devoted countless hours was slipping through her fingers.

I thought of going somewhere else, or doing something else, Karik said. I also thought maybe Im not good enough, not smart enough. I tried to imagine: Everything is here, and I just have to do better experiments.

In time, those better experiments came together. After a decade of trial and error, Karik and her longtime collaborator at Penn Drew Weissman, an immunologist with a medical degree and Ph.D. from Boston University discovered a remedy for mRNAs Achilles heel.

The stumbling block, as Kariks many grant rejections pointed out, was that injecting synthetic mRNA typically led to that vexing immune response; the body sensed a chemical intruder, and went to war. The solution, Karik and Weissman discovered, was the biological equivalent of swapping out a tire.

Every strand of mRNA is made up of four molecular building blocks called nucleosides. But in its altered, synthetic form, one of those building blocks, like a misaligned wheel on a car, was throwing everything off by signaling the immune system. So Karik and Weissman simply subbed it out for a slightly tweaked version, creating a hybrid mRNA that could sneak its way into cells without alerting the bodys defenses.

That was a key discovery, said Norbert Pardi, an assistant professor of medicine at Penn and frequent collaborator. Karik and Weissman figured out that if you incorporate modified nucleosides into mRNA, you can kill two birds with one stone.

That discovery, described in a series of scientific papers starting in 2005, largely flew under the radar at first, said Weissman, but it offered absolution to the mRNA researchers who had kept the faith during the technologys lean years. And it was the starter pistol for the vaccine sprint to come.

And even though the studies by Karik and Weissman went unnoticed by some, they caught the attention of two key scientists one in the United States, another abroad who would later help found Moderna and Pfizers future partner, BioNTech.

Derrick Rossi, a native of Toronto who rooted for the Maple Leafs and sported a soul patch, was a 39-year-old postdoctoral fellow in stem cell biology at Stanford University in 2005 when he read the first paper. Not only did he recognize it as groundbreaking, he now says Karik and Weissman deserve the Nobel Prize in chemistry.

If anyone asks me whom to vote for some day down the line, I would put them front and center, he said. That fundamental discovery is going to go into medicines that help the world.

But Rossi didnt have vaccines on his mind when he set out to build on their findings in 2007 as a new assistant professor at Harvard Medical School running his own lab.

He wondered whether modified messenger RNA might hold the key to obtaining something else researchers desperately wanted: a new source of embryonic stem cells.

In a feat of biological alchemy, embryonic stem cells can turn into any type of cell in the body. That gives them the potential to treat a dizzying array of conditions, from Parkinsons disease to spinal cord injuries.

But using those cells for research had created an ethical firestorm because they are harvested from discarded embryos.

Rossi thought he might be able to sidestep the controversy. He would use modified messenger molecules to reprogram adult cells so that they acted like embryonic stem cells.

He asked a postdoctoral fellow in his lab to explore the idea. In 2009, after more than a year of work, the postdoc waved Rossi over to a microscope. Rossi peered through the lens and saw something extraordinary: a plate full of the very cells he had hoped to create.

Rossi excitedly informed his colleague Timothy Springer, another professor at Harvard Medical School and a biotech entrepreneur. Recognizing the commercial potential, Springer contacted Robert Langer, the prolific inventor and biomedical engineering professor at the Massachusetts Institute of Technology.

On a May afternoon in 2010, Rossi and Springer visited Langer at his laboratory in Cambridge. What happened at the two-hour meeting and in the days that followed has become the stuff of legend and an ego-bruising squabble.

Langer is a towering figure in biotechnology and an expert on drug-delivery technology. At least 400 drug and medical device companies have licensed his patents. His office walls display many of his 250 major awards, including the Charles Stark Draper Prize, considered the equivalent of the Nobel Prize for engineers.

As he listened to Rossi describe his use of modified mRNA, Langer recalled, he realized the young professor had discovered something far bigger than a novel way to create stem cells. Cloaking mRNA so it could slip into cells to produce proteins had a staggering number of applications, Langer thought, and might even save millions of lives.

I think you can do a lot better than that, Langer recalled telling Rossi, referring to stem cells. I think you could make new drugs, new vaccines everything.

Langer could barely contain his excitement when he got home to his wife.

This could be the most successful company in history, he remembered telling her, even though no company existed yet.

Three days later Rossi made another presentation, to the leaders of Flagship Ventures. Founded and run by Noubar Afeyan, a swaggering entrepreneur, the Cambridge venture capital firm has created dozens of biotech startups. Afeyan had the same enthusiastic reaction as Langer, saying in a 2015 article in Nature that Rossis innovation was intriguing instantaneously.

Within several months, Rossi, Langer, Afeyan, and another physician-researcher at Harvard formed the firm Moderna a new word combining modified and RNA.

Springer was the first investor to pledge money, Rossi said. In a 2012 Moderna news release, Afeyan said the firms promise rivals that of the earliest biotechnology companies over 30 years ago adding an entirely new drug category to the pharmaceutical arsenal.

But although Moderna has made each of the founders hundreds of millions of dollars even before the company had produced a single product Rossis account is marked by bitterness. In interviews with the Globe in October, he accused Langer and Afeyan of propagating a condescending myth that he didnt understand his discoverys full potential until they pointed it out to him.

Its total malarkey, said Rossi, who ended his affiliation with Moderna in 2014. Im embarrassed for them. Everybody in the know actually just shakes their heads.

Rossi said that the slide decks he used in his presentation to Flagship noted that his discovery could lead to new medicines. Thats the thing Noubar has used to turn Flagship into a big company, and he says it was totally his idea, Rossi said.

Afeyan, the chair of Moderna, recently credited Rossi with advancing the work of the Penn scientists. But, he said, that only spurred Afeyan and Langer to ask the question, Could you think of a code molecule that helps you make anything you want within the body?

Langer, for his part, told STAT and the Globe that Rossi made an important finding but had focused almost entirely on the stem cell thing.

Despite the squabbling that followed the birth of Moderna, other scientists also saw messenger RNA as potentially revolutionary.

In Mainz, Germany, situated on the left bank of the Rhine, another new company was being formed by a married team of researchers who would also see the vast potential for the technology, though vaccines for infectious diseases werent on top of their list then.

A native of Turkey, Ugur Sahin moved to Germany after his father got a job at a Ford factory in Cologne. His wife, zlem Treci had, as a child, followed her father, a surgeon, on his rounds at a Catholic hospital. She and Sahin are physicians who met in 1990 working at a hospital in Saarland.

The couple have long been interested in immunotherapy, which harnesses the immune system to fight cancer and has become one of the most exciting innovations in medicine in recent decades. In particular, they were tantalized by the possibility of creating personalized vaccines that teach the immune system to eliminate cancer cells.

Both see themselves as scientists first and foremost. But they are also formidable entrepreneurs. After they co-founded another biotech, the couple persuaded twin brothers who had invested in that firm, Thomas and Andreas Strungmann, to spin out a new company that would develop cancer vaccines that relied on mRNA.

That became BioNTech, another blended name, derived from Biopharmaceutical New Technologies. Its U.S. headquarters is in Cambridge. Sahin is the CEO, Treci the chief medical officer.

We are one of the leaders in messenger RNA, but we dont consider ourselves a messenger RNA company, said Sahin, also a professor at the Mainz University Medical Center. We consider ourselves an immunotherapy company.

Like Moderna, BioNTech licensed technology developed by the Pennsylvania scientist whose work was long ignored, Karik, and her collaborator, Weissman. In fact, in 2013, the company hired Karik as senior vice president to help oversee its mRNA work.

But in their early years, the two biotechs operated in very different ways.

In 2011, Moderna hired the CEO who would personify its brash approach to the business of biotech.

Stphane Bancel was a rising star in the life sciences, a chemical engineer with a Harvard MBA who was known as a businessman, not a scientist. At just 34, he became CEO of the French diagnostics firm BioMrieux in 2007 but was wooed away to Moderna four years later by Afeyan.

Moderna made a splash in 2012 with the announcement that it had raised $40 million from venture capitalists despite being years away from testing its science in humans. Four months later, the British pharmaceutical giant AstraZeneca agreed to pay Moderna a staggering $240 million for the rights to dozens of mRNA drugs that did not yet exist.

The biotech had no scientific publications to its name and hadnt shared a shred of data publicly. Yet it somehow convinced investors and multinational drug makers that its scientific findings and expertise were destined to change the world. Under Bancels leadership, Moderna would raise more than $1 billion in investments and partnership funds over the next five years.

Modernas promise and the more than $2 billion it raised before going public in 2018 hinged on creating a fleet of mRNA medicines that could be safely dosed over and over. But behind the scenes the companys scientists were running into a familiar problem. In animal studies, the ideal dose of their leading mRNA therapy was triggering dangerous immune reactions the kind for which Karik had improvised a major workaround under some conditions but a lower dose had proved too weak to show any benefits.

Moderna had to pivot. If repeated doses of mRNA were too toxic to test in human beings, the company would have to rely on something that takes only one or two injections to show an effect. Gradually, biotechs self-proclaimed disruptor became a vaccines company, putting its experimental drugs on the back burner and talking up the potential of a field long considered a loss-leader by the drug industry.

Meanwhile BioNTech has often acted like the anti-Moderna, garnering far less attention.

In part, that was by design, said Sahin. For the first five years, the firm operated in what Sahin called submarine mode, issuing no news releases, and focusing on scientific research, much of it originating in his university lab. Unlike Moderna, the firm has published its research from the start, including about 150 scientific papers in just the past eight years.

In 2013, the firm began disclosing its ambitions to transform the treatment of cancer and soon announced a series of eight partnerships with major drug makers. BioNTech has 13 compounds in clinical trials for a variety of illnesses but, like Moderna, has yet to get a product approved.

When BioNTech went public last October, it raised $150 million, and closed with a market value of $3.4 billion less than half of Modernas when it went public in 2018.

Despite his role as CEO, Sahin has largely maintained the air of an academic. He still uses his university email address and rides a 20-year-old mountain bicycle from his home to the office because he doesnt have a drivers license.

Then, late last year, the world changed.

Shortly before midnight, on Dec. 30, the International Society for Infectious Diseases, a Massachusetts-based nonprofit, posted an alarming report online. A number of people in Wuhan, a city of more than 11 million people in central China, had been diagnosed with unexplained pneumonia.

Chinese researchers soon identified 41 hospitalized patients with the disease. Most had visited the Wuhan South China Seafood Market. Vendors sold live wild animals, from bamboo rats to ostriches, in crowded stalls. That raised concerns that the virus might have leaped from an animal, possibly a bat, to humans.

After isolating the virus from patients, Chinese scientists on Jan. 10 posted online its genetic sequence. Because companies that work with messenger RNA dont need the virus itself to create a vaccine, just a computer that tells scientists what chemicals to put together and in what order, researchers at Moderna, BioNTech, and other companies got to work.

A pandemic loomed. The companies focus on vaccines could not have been more fortuitous.

Moderna and BioNTech each designed a tiny snip of genetic code that could be deployed into cells to stimulate a coronavirus immune response. The two vaccines differ in their chemical structures, how the substances are made, and how they deliver mRNA into cells. Both vaccines require two shots a few weeks apart.

The biotechs were competing against dozens of other groups that employed varying vaccine-making approaches, including the traditional, more time-consuming method of using an inactivated virus to produce an immune response.

Moderna was especially well-positioned for this moment.

Forty-two days after the genetic code was released, Modernas CEO Bancel opened an email on Feb. 24 on his cellphone and smiled, as he recalled to the Globe. Up popped a photograph of a box placed inside a refrigerated truck at the Norwood plant and bound for the National Institute of Allergy and Infectious Diseases in Bethesda, Md. The package held a few hundred vials, each containing the experimental vaccine.

Moderna was the first drug maker to deliver a potential vaccine for clinical trials. Soon, its vaccine became the first to undergo testing on humans, in a small early-stage trial. And on July 28, it became the first to start getting tested in a late-stage trial in a scene that reflected the firms receptiveness to press coverage.

The first volunteer to get a shot in Modernas late-stage trial was a television anchor at the CNN affiliate in Savannah, Ga., a move that raised eyebrows at rival vaccine makers.

Along with those achievements, Moderna has repeatedly stirred controversy.

On May 18, Moderna issued a press release trumpeting positive interim clinical data. The firm said its vaccine had generated neutralizing antibodies in the first eight volunteers in the early-phase study, a tiny sample.

But Moderna didnt provide any backup data, making it hard to assess how encouraging the results were. Nonetheless, Modernas share price rose 20% that day.

Some top Moderna executives also drew criticism for selling shares worth millions, including Bancel and the firms chief medical officer, Tal Zaks.

In addition, some critics have said the government has given Moderna a sweetheart deal by bankrolling the costs for developing the vaccine and pledging to buy at least 100 million doses, all for $2.48 billion.

That works out to roughly $25 a dose, which Moderna acknowledges includes a profit.

In contrast, the government has pledged more than $1 billion to Johnson & Johnson to manufacture and provide at least 100 million doses of its vaccine, which uses different technology than mRNA. But J&J, which collaborated with Beth Israel Deaconess Medical Centers Center for Virology and Vaccine Research and is also in a late-stage trial, has promised not to profit off sales of the vaccine during the pandemic.

Over in Germany, Sahin, the head of BioNTech, said a Lancet article in January about the outbreak in Wuhan, an international hub, galvanized him.

We understood that this would become a pandemic, he said.

The next day, he met with his leadership team.

I told them that we have to deal with a pandemic which is coming to Germany, Sahin recalled.

He also realized he needed a strong partner to manufacture the vaccine and thought of Pfizer. The two companies had worked together before to try to develop mRNA influenza vaccines. In March, he called Pfizers top vaccine expert, Kathrin Jansen.

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The story of mRNA: From a loose idea to a tool that may help curb Covid - STAT

November 02, 2020 -Broad-based genetic testing could identify inherited genetic mutations and accelerate precision medicine therapies for patients with cancer, according to a study published in JAMA Oncology.

Hereditary factors play a key role in the development of many cancers, researchers at Mayo Clinics Center for Individualized Medicine noted. Identifying genetic predispositions for certain cancers can have significant implications for treatment decisions, interventions, cancer screenings, and genetic testing for patients and close relatives.

Selecting patients for genetic testing has traditionally been based on pathologic features of the cancer, age at diagnosis, family history of cancer, and other factors named in clinical guidelines. Few studies have examined the impact of broad-based testing for gene mutations in patients with cancer compared with more traditional methods of selection.

Over the course of two years, Mayo Clinic researchers provided free genetic testing and counseling for 3,084 patients as part of their standard cancer care. The project included a wide range of cancer stages and types, such as breast, colorectal, lung, ovarian, pancreatic, bladder, and prostate cancers.

The results showed that with standard guidelines, physicians were only able to find 48 percent of patients with an inherited genetic mutation.

We found that 13.5 percent of patients had an inherited mutation in a gene associated with the development of their cancer, saidNiloy Jewel Samadder, MD, a Mayo Clinic gastroenterologist and hepatologist, who is the study's author.

More than half of the patients who developed cancer due to inherited mutations were being missed, and that has major implications for family members. Everyone has some risk of developing cancer, and in most cases the disease develops by chance. However, some people are genetically predisposed to developing certain types of cancer, such as breast or colon cancers.

When researchers examined the effects of a genetic mutation discovery, the team found that one-third of patients with the highest-risk cancer genes had a change in their medical management, including the type of surgery or chemotherapy they received.

This targeted treatment would have been lost if the patients had not received genetic testing, Samadder stated.

The results demonstrate the importance of genetic testing for all patients, and not just specific individuals.

Genetic testing is underutilized in cancer care, both for patients and for their families, often due to outdated guidelines that restrict testing to a narrow group of high-risk patients, saidRobert Nussbaum, MD,chief medical officer ofInvitae Corporation.

All cancer patients should have access to complete genetic information that can guide their care and inform their families' health.

Additionally, high-risk patients should share the heritable-cause of the disease with their relatives, which will allow family members to pursue disease care for earlier cancer management and detection.

We can help prevent cancer in their loved ones because it is genetic, and they share these cancer-causing genetic changes with their children, siblings and others in their families, Samadder said. We can target prevention strategies for those high-risk individuals and hopefully prevent cancer altogether in future generations of their family.

All blood-related family members of patients found to have a genetic mutation were offered free genetic testing. Overall, one in five of these family members underwent testing, the researchers said.

Going forward, the research team hopes to be able to incorporate the studys results into the care of all patients with cancer at Mayo Clinic. The study demonstrates the potential for broad genetic testing to accelerate the development of precision medicine therapies for cancer.

Steps are being taken to ensure all patients are offered genomic sequencing to better understand the genes that led to the development of their cancer, and how to precisely target treatment and improve survival, said Samadder.

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Genetic Testing Can Lead to Precision Medicine Therapies for Cancer - HealthITAnalytics.com

Nov. 5, 2020 06:00 UTC

TOKYO & CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Modalis Therapeutics Corporation (Modalis) (TOKYO: 4883), a leading company developing innovative products for the treatment of rare genetic diseases utilizing its proprietary CRISPR-GNDM epigenetic gene modulation technology, today reported financial results for the third quarter ended September 30, 2020, as well as recent operational highlights.

"Our goal is to create CRISPR based gene therapies for genetic disorders, most of which fall into the orphan disease category. There should be no disease that is ignored because of its small patient population, and our mission to develop disease modifying treatments for these diseases reflects our belief that Every Life Deserves Attention. We are proud to be a pioneer in CRISPR based gene modulation therapies and we are grateful to our investors and employees who are working to fulfill this important mission, said Haru Morita, Chief Executive Officer of Modalis.

Operational Highlights:

Third Quarter 2020 Financial Results:

About Modalis:

Modalis Therapeutics is developing precision genetic medicines through epigenetic gene modulation. Founded by Osamu Nureki and leading scientists in CRISPR gene editing from University of Tokyo, Modalis is pursuing therapies for orphan genetic diseases using its proprietary CRISPR-GNDM technology which enables the locus specific modulation of gene expression or histone modification without the need for double-stranded DNA cleavage, gene editing or base editing. Modalis is focusing initially on genetic disorders caused by loss of gene regulation resulting in excess or insufficient protein production which includes more than 660 genes that are currently estimated to cause human disease due to haploinsufficiency. Headquartered in Tokyo with laboratories and facilities in Cambridge, Massachusetts. For additional information, visit http://www.modalistx.com.

Consolidated Financial Results for the Nine Months Ended September 30, 2020 [Japanese GAAP]

Company name: Modalis Therapeutics CorporationStock exchange listing: Tokyo Stock ExchangeCode number: 4883URL: https://www.modalistx.com/jp/ Representative: Haruhiko Morita, President and Representative DirectorContact: Naoki Kobayashi, CFO and Executive OfficerPhone: +81-3-6822-4584Scheduled date of filing quarterly securities report: November 13, 2020Scheduled date of commencing dividend payments: -Availability of supplementary briefing material on quarterly financial results: AvailableSchedule of quarterly financial results briefing session: -

(Amounts of less than one million yen are rounded down.)

1.

Consolidated Financial Results for the Nine Months Ended September 30, 2020 (January 1, 2020 to September 30, 2020)

(1) Consolidated Operating Results

(% indicates changes from the previous corresponding period.)

Operating revenue

Operating income

Ordinary income

Profit attributable toowners of parent

Nine months ended

Million yen

%

Million yen

%

Million yen

%

Million yen

%

September 30, 2020

340

-

168

-

209

-

214

-

September 30, 2019

-

-

-

-

-

-

-

-

(Note)

Comprehensive income:

Nine months ended September 30, 2020: 215 million [-%]

Nine months ended September 30, 2019: - million [-%]

Basic earnings

per share

Diluted earnings

per share

Nine months ended

Yen

Yen

September 30, 2020

8.34

-

September 30, 2019

-

-

(Notes)

1. The Company has not prepared the consolidated financial statements for the nine months ended September 2019. Accordingly, no figures are shown for the nine months ended September 30, 2019 and no percentage changes are shown for the nine months ended September 30, 2020.

2. Although the Company has dilutive shares, diluted earnings per share are not indicated because the Companys shares were not listed and the average share price is not available for the period under review.

(2) Consolidated Financial Position

Total assets

Net assets

Capital adequacyratio

Million yen

Million yen

%

As of September 30, 2020

6,480

6,428

99.2

As of December 31, 2019

3,938

3,842

97.6

(Reference)

Equity:

As of September 30, 2020: 6,428 million

As of December 31, 2019: 3,842 million

View source version on businesswire.com: https://www.businesswire.com/news/home/20201104005831/en/

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Modalis Therapeutics Reports Third Quarter 2020 Financial Results and Operational Highlights - BioSpace

RESEARCH TRIANGLE PARK The United Kingdoms Medicines and Healthcare products Regulatory Agency (MHRA) has granted Durham-basedBioCryst Pharmaceuticals berotralstat a positive scientific opinion through the Early Access to Medicines Scheme.

Berotralstat is an oral, once-daily medication for hereditary angioedema (HAE), a serious and potentially life-threatening, rare genetic illness characterized by periodic episodes of acute swelling in various parts of the body including skin, throat, gastrointestinal tract and extremities.

With the regulatory agencys positive opinion, hereditary angioedema patients in the U.K. aged 12 years and older can gain access to berotralstat for the routine prevention of recurrent attacks of HAE before the drug is granted marketing authorization by the European Commission.

HAE patients around the world are waiting for an oral, once-daily therapy to prevent attacks and reduce their burden of therapy, said Jon Stonehouse, chief executive officer of BioCryst. With this decision by the MHRA, the wait for many HAE patients in the U.K. can end sooner.

Durhams BioCryst lands $44M contract to test anti-viral drug against COVID-19 virus

Medicines included in the United Kingdoms Early Access to Medicines Scheme (EAMS) are those that have a high unmet need, are intended to treat, diagnose or prevent seriously debilitating or life-threatening conditions where there are no adequate treatment options, and are likely to offer significant advantage over methods currently used in the country. Under the scheme, the MHRA provides a scientific opinion on the benefit-risk balance of the medicine, based on the data available when the EAMS submission was made.

There are many patients in the U.K. that dont have a realistic option for effective HAE prophylaxis, said Dr. Sorena Kiani, consultant immunologist at Royal London Hospital, London. The addition of berotralstat through the EAMS will bring a much needed option for HAE patients suffering with this debilitating disease.

The European Medicines Agency is reviewing the marketing authorization application for berotralstat under the centralized procedure. An opinion from the Committee for Medicinal Products for Human Use is expected approximately 12 months from the marketing authorization application validation, which the company announced on March 30, 2020.

BioCryst Pharmaceuticals discovers novel, oral, small-molecule medicines that treat rare diseases in which significant unmet medical needs exist and an enzyme plays a key role in the biological pathway of the disease.

(C) N.C. Biotech Center

RTP biotech BioCryst receives $7M order from feds for influenza therapy

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Biocryst treatment for genetic disease HAE lands early access approval in UK - WRAL Tech Wire

The mothers of kids with autism often have subtle traits of the condition that are not enough for an autism diagnosis, but that could indicate a genetic link for autism spectrum disorder, according to a new study.

The study, published in the journal Biological Psychiatry, looked at genetic and behavioral information from 2,614 families in which one child has autism. The researchers found that women who have trouble communicating in social settings tend to have children with autism who have more pronounced social and communication challenges, according to Spectrum News.

The findings could help researchers better understand the role of genetics in autism spectrum disorder, and how the condition presents in women. With autism becoming increasingly common affecting 1 in 59 American children a better understanding of the condition is critical.

The researchers looked at parents of children with autism using the broad autism phenotype (BAP). A phenotype is the way that genetic information is expressed. Researchers theorize that BAP includes subtle signs of the symptoms associated with autism spectrum disorder. For example, a person might be sensitive to sensory stimulations or have some trouble communicating, but not enough to warrant an autism diagnosis.

Understanding how common BAP is in the families of people with autism can help researchers understand how likely it is that someone with a genetic predisposition to autism will develop the condition. This is also known as genetic liability.

"I was really excited to see that features of broad autism phenotype, and especially language-related features, seem to be really important in understanding how genetic liability is expressed and really linked to molecular genetic variation," Molly Losh, director of the Neurodevelopmental Disabilities Lab at Northwestern University in Evanston, Illinois and lead author of the study, told Spectrum News.

The study indicated that women with BAP could pass down a genetic predisposition to autism, even when they don't have the condition themselves. This is known as the female protective effect the idea that it takes more genetic influence to lead to autism in females than males. That could be why autism is diagnosed more often in boys.

The researchers evaluated both mothers and fathers for BAP,using a questionnaire. Overall, dads had a higher BAP score or more tendencies that could be associated with BAP.

The researchers found that mothers and fathers BAP scores were linked to the behaviors of their children with autism in different ways. If dads had a rigid approach to the world, their children were more likely to have repetitive behaviors. If moms had a high BAP score, their children with autism were more likely to have symptoms related to language, communication, and social cues.

This study is significant because while previous research has looked at the correlation between fathers' BAP scores and their children's symptoms, this is the first study to link mother's BAP scores with children's symptoms.

Losh and Lea Davis, assistant professor of genetic medicine at Vanderbilt University in Nashville, Tennessee, and co-author of the study, plan to do more research into female BAP and how that plays out in families where children have autism. That could help researchers understand more about how autism presents in females.

"The field is really good at identifying these features at a granular level for young boys, really not nearly as good at doing that for, let's say, adult women," Davis told Spectrum News. "That's another area that we're just starting to scratch the surface on, and this was an interesting way of kind of looking at some of those questions."

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Moms of kids with autism may show subtle signs of the condition themselves - Insider - INSIDER

Several environmental and genetic factors have been found to influence the development and progression of coronary artery disease (CAD). Although the effects of the environmental hazards on CAD pathophysiology are well documented, the genetic architecture of the disease remains quite unclear. A number of single-nucleotide polymorphisms have been identified based on the results of the genome-wide association studies. However, there is a lack of strong evidence regarding molecular causality. The minority of the reported predisposing variants can be related to the conventional risk factors of CAD, while most of the polymorphisms occur in non-protein-coding regions of the DNA. However, independently of the specific underlying mechanisms, genetic information could lead to the identification of a population at higher genetic risk for the long-term development of CAD. Myocardial single-photon emission computed tomography (SPECT) and positron emission tomography (PET) are functional imaging techniques that can evaluate directly myocardial perfusion, and detect vascular and/or endothelial dysfunction. Therefore, these techniques could have a role in the investigation of the underlying mechanisms associated with the identified predisposing variants, advancing our understanding regarding molecular causality. In the population at higher genetic risk, myocardial SPECT or PET could provide important evidence through the early depiction of sub-clinical dysfunctions, well before any atherosclerosis marker could be identified. Notably, SPECT and PET techniques have been already used for the investigation of the functional consequences of several CAD-related polymorphisms, as well as the response to certain treatments (statins). Furthermore, therefore, in the clinical setting, the combination of genetic evidence with the findings of myocardial SPECT, or PET, functional imaging techniques could lead to more efficient screening methods and may improve decision making with regard to the diagnostic investigation and patients management.

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Investigating the genetic characteristics of CAD: Is there a role for myocardial perfusion imaging techniques? - Physician's Weekly

On Oct. 19,Nancy Carrasco, professor and chair of the Department of Molecular Physiology and Biophysics and the Joe C. Davis Chair of Biomedical Science, waselectedto the National Academy of Medicine.

The election process recognizes individuals who have made major contributions to the advancement of the medical sciences, health care and public health. According to a release, current members elected Carrasco for making exceptional contributions to elucidating mechanisms by which ions and other solutes are transported across biological membranes. Her work has broad impact and significance across biomedical fields ranging from biophysics and molecular physiology to cancer, metabolism, molecular endocrinology, and public health.

We are thrilled that Dr. Carrasco has been recognized by the National Academy of Medicine for the work that she continues to devote her extraordinary career to, saidLawrence Marnett, dean of the Vanderbilt University School of Medicine Basic Sciences and Mary GeddesStahlmanProfessor of Cancer Research. Her research is focused on understanding the physiology of thyroid hormone biosynthesis and how it is affected by genetic mutations and environmental pollutants. She is addressing pressing public health concerns, and her work has a clear, tangible impact on human health.

Dr. Carrascos election to the National Academy of Medicine underscores her commitment to bringing scientific clarity to a public health crisis. Her focus on inclusive and collaborative research has resulted in transformative research that is meaningfully improving human health, while also exemplifying the diverse perspectives and trans-institutional methods that set Vanderbilt apart, noted Provost and Vice Chancellor for Academic AffairsSusan R. Wente.

Carrasco has been elected to the NAM along withtwo other Vanderbilt researchers,Velma McBride Murry, university professor of health policy and human and organizational development in Peabody College and the School of Medicine and the Lois Autrey Betts Chair of Education and Human Development at Peabody College, andConsuelo Wilkins, professor of medicine in the School of Medicine and vice president for health equity at Vanderbilt University Medical Center.

Carrasco isolated the coding DNA for the sodium/iodide symporter NIS, the iodide transporter protein that actively pulls iodide from the bloodstream into the thyroid gland. Iodide is an essential constituent of the thyroid hormones, which are crucial for the development of the nervous system beginning in uterine life, and regulate metabolism in virtually all tissues. The critical importance of the thyroid hormones makes understanding the protein that ushers their key constituent into the thyroid gland essential to understanding human health overall.

I am deeply honored to have been elected to the National Academy of Medicine, Carrasco said. I have always felt very strongly that the links between understanding physiology and pathophysiology at the molecular level and both medical practice and public health should be viewed as a cornerstone of our collective efforts to improve the health of our communities, and that has been a guiding principle in my work. I am extremely grateful to the members of the Academy for electing me and, in so doing, affirming the value of basic science as a key contributor to progress in medicine.

Carrasco continues to investigate the functions of NIS and its interaction with the environmental pollutantperchlorate. She and her colleagues recently reported that perchlorate exposure fundamentally alters the mechanism by which NIS transports iodide into the thyroid, and her group had previously shown that NIS is functionally expressed in lactating breast tissue, making it clear that this pollutant is more dangerous than previously thought. These discoveries demonstrate that perchlorate exposure can markedly decrease thyroid hormone production in vulnerable populations, including pregnant and nursing mothers and their fetuses and newborns. Her research also has direct applications to the development of breast cancer therapeutics.

Carrasco has received numerous national and international awards, including the Pew Award in the Biomedical Sciences, the Arnold and Mabel Beckman Foundation Award, the Maria SibyllaMerianAward (Germany), the Merck Prize from the European Thyroid Association (Poland), the NounShavitAwardin Life Sciences (Israel),and Light of Life Award. She has served as president of the Society of Latin American Biophysicists and was elected to the National Academy of Sciences in 2015.

Carrasco received her M.D. and masters degree in biochemistry from the National Autonomous University of Mexico in her native Mexico City and completed her postdoctoral training at the Roche Institute of Molecular Biology. She joined the faculty at Albert Einstein College of Medicine in 1987 and at the Yale School of Medicine in 2011. She joined Vanderbilt in 2019.

This distinguished and diverse class of new members is a truly exceptional group of scholars and leaders whose expertise in science, medicine, health, and policy will be integral to helping the NAM address todays most pressing health challenges and inform the future of health and health care for the benefit of everyone around the globe, said National Academy of Medicine PresidentVictor J. Dzau. It is my privilege to welcome these esteemed individuals to the National Academy of Medicine.

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Nancy Carrasco elected to the National Academy of Medicine for outstanding professional achievement and commitment to service - Vanderbilt University...

LEXINGTON, Mass., Nov. 03, 2020 (GLOBE NEWSWIRE) -- LogicBio Therapeutics, Inc. (Nasdaq:LOGC) (LogicBio), a company dedicated to extending the reach of genetic medicine with pioneering targeted delivery platforms, today announced the appointment of Mariana Nacht, Ph.D., as chief scientific officer, effective Nov. 30, 2020, and the promotion of Kyle Chiang, Ph.D., to chief operating officer, effective Nov. 2, 2020.

Dr. Nacht brings more than 20 years of experience in both large and small biotech companies to her role at LogicBio. Most recently, she served as CSO and was a founding executive team member of Cereius, where she led a small internal research team and a group of collaborators to develop radiolabeled proteins for the treatment of brain metastases. Before that, she served as CSO of Vivid Biosciences, a functional precision medicine company, where she was also a founding executive team member. Dr. Nacht has also served in key scientific roles at Padlock Therapeutics (acquired by Bristol Myer Squibb in 2014) and Avila Therapeutics, a platform company that developed covalent irreversible inhibitors and was acquired by Celgene in 2012. Earlier in her career, she spent a decade working at Genzyme (now Sanofi Genzyme), where she led anti-angiogenesis and oncology target discovery efforts. Dr. Nacht received her B.S. in biology from Tufts University and her Ph.D. from the University of Pennsylvania.

We are proud to expand our leadership team as we prepare to launch our first clinical trial in pediatric patients with methylmalonic acidemia (MMA) and continue to advance both our GeneRide and Next Generation Capsid platforms, said Fred Chereau, CEO of LogicBio. Mariana brings terrific expertise in novel therapeutic platforms as well as deep experience in building and leading strong scientific teams to her position as CSO. Were thrilled to welcome her to LogicBio as we move into this exciting next phase of progress. Im also delighted to have Kyle promoted to our core leadership team. He has provided essential guidance on pipeline strategy and program development from the early days of LogicBio and he will continue to be an important voice in shaping our future growth.

I am very enthusiastic about the potential for the GeneRide platform to transform care for pediatric patients with rare genetic diseases, Dr. Nacht said. We all enter this field to make a difference for patients, and I am excited to be joining LogicBio just as LB-001, our lead program for children with MMA, is about to enter the clinic with the Phase 1/2 SUNRISE trial. Beyond LB-001, I look forward to further advancing LogicBios pipeline with the goal of bringing more durable and transformational therapies to people living with devastating genetic diseases.

Dr. Chiang was the second employee at LogicBio and has held positions of increasing responsibility since joining the team as director of translational science in 2016. Most recently, he served as vice president, product strategy, where he led LB-001 through early regulatory interactions and managed LogicBios collaboration with the Childrens Medical Research Institute to develop more potent and more easily manufacturable AAV capsids for gene therapy and genome editing applications. Before joining LogicBio, Dr. Chiang led aTyr Pharmas ATYR1940 program from discovery through early clinical development for patients with facioscapulohumeral muscular dystrophy. Dr. Chiang received his B.S. in biochemistry and cell biology from the University of California, San Diego and his Ph.D. in macromolecular cellular structure and chemistry from the Scripps Research Institute.

LogicBio also announced today that Bryan Yoon, Esq., the companys chief administrative officer, general counsel and corporate secretary, will be departing from the company effective Nov. 6, 2020. I want to thank Bryan for his contributions to LogicBio and we wish him the best in his next challenge, Mr. Chereau said.

AboutLogicBioTherapeuticsLogicBio Therapeuticsis dedicated to extending the reach of genetic medicine with pioneering targeted delivery platforms. LogicBios proprietary genome editing technology platform, GeneRide, enables the site-specific integration of a therapeutic transgene without nucleases or exogenous promoters by harnessing the native process of homologous recombination. LogicBio has received FDA clearance for the first-in-human clinical trial of LB-001, a wholly owned genome editing program leveraging GeneRide for the treatment of methylmalonic acidemia. Patient enrollment is expected to begin in early 2021. In addition, LogicBio has a collaboration withTakedato research and develop LB-301, an investigational therapy leveraging GeneRide for the treatment of the rare pediatric disease Crigler-Najjar syndrome.

LogicBio is also developing a Next Generation Capsid platform for use in gene editing and gene therapies. Data presented have shown that the capsids deliver highly efficient functional transduction of human hepatocytes with improved manufacturability with low levels of pre-existing neutralizing antibodies in human samples. Top-tier capsid candidates from this effort demonstrated significant improvements over benchmark AAVs currently in clinical development. LogicBio is developing these highly potent vectors for internal development candidates and potentially for business development collaborations.

LogicBio is headquartered in Lexington, Mass. For more information, please visit http://www.logicbio.com.

Forward Looking Statements

This press release contains forward-looking statements within the meaning of the federal securities laws, including those related to the timing, progress and results of the Companys strategic directives and its research and development activities, including those related to LB-001 and its pipeline. These are not statements of historical facts and are based on managements beliefs and assumptions and on information currently available. They are subject to risks and uncertainties that could cause the actual results and the implementation of the Companys plans to vary materially, including the risks associated with the initiation, cost, timing, progress and results of the Companys current and future research and development activities and preclinical studies and potential future clinical trials. In particular, the impact of the COVID-19 pandemic on the Companys ability to progress with its research, development, manufacturing and regulatory efforts, including the Companys plans to initiate, advance and complete its Phase 1/2 clinical trial for LB-001 in MMA, and the value of and market for the Companys common stock, will depend on future developments that are highly uncertain and cannot be predicted with confidence at this time, such as the ultimate duration of the pandemic, travel restrictions, quarantines, social distancing and business closure requirements in the United States and in other countries, and the effectiveness of actions taken globally to contain and treat the disease. These risks are discussed in the Companys filings with the U.S. Securities and Exchange Commission (SEC), including, without limitation, the Companys Annual Report on Form 10-K filed on March 16, 2020 with the SEC, the Companys Quarterly Report on Form 10-Q filed on May 11, 2020, and the Companys subsequent Quarterly Reports on Form 10-Q and other filings with the SEC. Except as required by law, the Company assumes no obligation to update these forward-looking statements publicly, even if new information becomes available in the future.

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Investors:Matthew LaneGilmartin Investor Relationmatt@gilmartinir.com

Media:Stephanie SimonTenBridge Communicationsstephanie@tenbridgecommunications.com617-581-9333

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LogicBio Therapeutics Announces Appointment of Veteran Biotech Executive Mariana Nacht, Ph.D., as Chief Scientific Officer and Kyle Chiang, Ph.D.,...

President Trumps illness from a coronavirus infection last month was the most significant health crisis for a sitting president in nearly 40 years. Yet little remains known about how the virus arrived at the White House and how it spread.

The administration did not take basic steps to track the outbreak, limiting contact tracing, keeping cases a secret and cutting out the Centers for Disease Control and Prevention. The origin of the infections, a spokesman said, was unknowable.

But one standard public health technique may still shed some light: tracking the clusters genetic fingerprints.

To better understand the outbreak, The New York Times worked with prominent geneticists to determine the genetic sequence of viruses that infected two Times journalists believed to have been exposed to the coronavirus as part of their work covering the White House.

The study reveals, for the first time, the genetic sequence of the virus that may have infected Mr. Trump and dozens of others, researchers said. That genome is a crucial clue that may allow researchers to identify where the outbreak originated and whether it went on to infect others across the country.

The White House has not disclosed any effort to conduct similar genetic testing, but the studys results show that it is still possible, even weeks after positive tests. Additional sequencing could help establish the path of the virus through the White House, the role of a possible super-spreading event for Judge Amy Coney Barrett and the origin of an outbreak among the staff of Vice President Mike Pence in the last week or so.

The journalists, Michael D. Shear and Al Drago, both had significant, separate exposure to White House officials in late September, several days before they developed symptoms. They did not spend any time near each other in the weeks before their positive tests.

Mr. Shear traveled with Mr. Trump and other staff on Air Force One on Sept. 26, when Mr. Trump approached within five or six feet without a mask. Mr. Drago covered the Judge Barrett event that day and a news conference the next day near officials who were not wearing masks and later tested positive. Both journalists wore masks.

The viral genomes of the two journalists shared the same distinct pattern of mutations, the research found. Along with their exposure history, the findings suggest that they were infected as part of the broader White House outbreak, said Trevor Bedford, a geneticist at the Fred Hutchinson Cancer Research Center and the University of Washington who led the research team.

These mutations that are possessed by these viruses are quite rare in the United States, Dr. Bedford said. I am highly convinced that these viruses come from the same outbreak or cluster based on their genomes.

The study, which has been posted online but not yet peer reviewed or published in a science journal, followed academic protocols that require genetic samples to be anonymous. Mr. Shear and Mr. Drago chose to disclose their identities for this article.

Viruses constantly mutate, picking up tiny, accidental alterations to their genetic material as they reproduce. Few mutations alter how a virus functions. But by comparing patterns of mutations across many genetic sequences, scientists can construct family trees of a virus, illuminating how it spreads.

The genomes believed by these researchers to be connected to the White House outbreak do not identify a recent geographic source, in part because they are unusual. The ancestors of those viruses spread to the United States from Europe and were circulating widely across the country in April and May, but the trail goes cold after that, according to Dr. Bedford.

Geneticists said the genomes are a key piece of the puzzle that may spur future research to determine where the White House outbreak originated and where it may go next. Scientists collect and publish tens of thousands of new sequences of the coronavirus every month, and additional testing may fill in the picture.

The results show that even weeks after it was identified, the White House outbreak would be better understood by sequencing samples of more people who were infected. Swabs used in positive tests are often kept in labs for months after an initial infection, and genetic material for the coronavirus is stable if stored appropriately.

The C.D.C. routinely relies on genetic testing to help understand Covid-19 outbreaks elsewhere across the country. In a study released on Thursday, the C.D.C. cited genetic sequencing and intensive contact tracing that documented an super-spreading event at a high school retreat in Wisconsin.

But the Trump administration is not known to have conducted its own genetic analysis of people infected in the outbreak. The White House declined to respond to questions on genetic sequencing of Mr. Trump and the cluster of aides and officials who tested positive or became ill.

There is still a remote possibility, Dr. Bedford said, that a previously unseen version of the virus had been circulating undetected in Washington or Northern Virginia and infected both journalists independently from the White House cluster. More testing of the outbreak could eliminate that possibility entirely, he said.

Scientists not involved in the research who reviewed the results agreed with the conclusion that the two samples sharing rare mutations strongly suggested they are part of the same outbreak.

These genomes are probably going to be identical or nearly identical to the genome that infected the president, said Michael Worobey, head of the department of ecology and evolutionary biology at the University of Arizona.

Dr. Worobey disputed the White Houses characterization that the source of the outbreak could not be known.

A lot of things are unknowable if you make no effort to know anything about them, and this falls into this category, Dr. Worobey said. All of these things actually can be known if you make the effort and you have the transparency that scientists are desperately trying to promote as we sequence hundreds of thousands of these genomes around the world.

For months, the White House minimized the threat of the virus and eschewed basic safety precautions at official events, like wearing a mask or keeping people six feet apart.

At least 11 people who attended a Rose Garden celebration on Sept. 26 for Judge Barrett, which included an indoor event without masks, became infected with the coronavirus, including Mr. Trump. Additional genetic testing could help more clearly establish the role of that event.

Dr. Bedford and his colleagues were able to obtain a full genetic sequence for the virus that infected Mr. Shear and a partial sequence of the virus that infected Mr. Drago. Several unusual mutations matched in the two samples, sufficient evidence to determine with a very high probability that they were essentially the same genome, Dr. Bedford said.

The work was carried out by a multidisciplinary team of researchers at the University of Washington School of Medicine, the Hutchinson Center and the Brotman Baty Institute for Precision Medicine in Seattle.

The work is convincing, and it is the best way to piece together the progression of such an outbreak, said David Engelthaler, head of the infectious disease branch of the Translational Genomics Research Institute in Arizona, where he and colleagues have sequenced thousands of genomes to track the spread of the coronavirus, including devastating outbreaks at Native American reservations in the state.

Its critical no matter where we are to sequence this virus, Dr. Engelthaler said. Not just at the White House, but at the White Mountain Apache Reservation here in Arizona.

Carl Zimmer contributed reporting.

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Tests Show Genetic Signature of Coronavirus That Likely Infected Trump - The New York Times

CAMBRIDGE, Mass., Nov. 02, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that senior management will participate in a fireside chat at the 29th Annual Credit Suisse Virtual Healthcare Conference on Monday, November 9, 2020 at 3:30 p.m. E.T.

The presentation will be webcast live under the investor relations section of Sareptas website at http://www.sarepta.com and will be archived there following the presentation for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We routinely post information that may be important to investors in the 'Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.Investors:Ian Estepan, 617-274-4052, iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

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Sarepta Therapeutics to Present at the 29th Annual Credit Suisse Virtual Healthcare Conference - GlobeNewswire

Vertex Announces European Commission Approval for KALYDECO (ivacaftor) as First and Only CFTR Modulator to Treat Eligible Infants With Cystic Fibrosis as Early as Four Months of Age

- Approval provides opportunity to treat the underlying cause of cystic fibrosis earlier than ever before in Europe -

LONDON 4 November 2020 Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that the EuropeanCommission has granted approval of thelabel extension for KALYDECO (ivacaftor) granules to include the treatment of infants with cystic fibrosis (CF) ages 4 months and older and weighing at least 5 kg who have the R117H mutation or one of the following gating (class III) mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.

Our very first CFTR modulator, KALYDECO, was first approved eight years ago, for certain CF patients ages 6 years and older. With todays approval, babies as young as 4 months are eligible and we believe early treatment is important in managing CF, said Reshma Kewalramani, M.D., Chief Executive Officer and President, Vertex. Todays approval is a testament to our commitment to keep going until all people with CF have a treatment option.

The label update is based on data from a cohort in the 24-week Phase 3 open-label safety study (ARRIVAL) consisting of six children with CF ages four months to less than six months who have eligible gating mutations.

KALYDECO (ivacaftor) will be now available to additional eligible patients in Germany and will be available shortly in countries that have entered into innovative long-term reimbursement agreements with Vertex, including the UK, Denmark and the Republic of Ireland. In all other countries, Vertex will work closely with relevant authorities in Europe to secure access for eligible patients.

KALYDECO (ivacaftor) is already approved in Europe for people with CF ages 6 months and older weighing at least 5 kg who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, R117H, S1251N, S1255P, S549N or S549R.

About Cystic Fibrosis

Cystic Fibrosis (CF) is a rare, life-shortening genetic disease affecting approximately 75,000 people worldwide. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes one from each parent to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.

About KALYDECO (ivacaftor)

Ivacaftor is the first medicine to treat the underlying cause of CF in people with specific mutations in theCFTRgene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

For complete product information, please see the Summary of Product Characteristics that can be found on http://www.ema.europa.eu.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 inCambridge, Mass.,Vertex's global headquarters is now located inBoston'sInnovation Districtand its international headquarters is inLondon. Additionally, the company has research and development sites and commercial offices in North America,Europe,AustraliaandLatin America.Vertexis consistently recognized as one of the industry's top places to work, including11 consecutive years onScience magazine'sTop Employers listand a best place to work for LGBTQ equality by the Human Rights Campaign. For company updates and to learn more about Vertex's history of innovation, visitwww.vrtx.comor follow us on Facebook, Twitter, LinkedIn, YouTube and Instagram.

Special Note Regarding Forward-looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, statements made by Dr. Reshma Kewalramani in this press release, and statements regarding the eligible patient population in Europe, our expectations regarding the timing of access to KALYDECO for eligible patients four months of age and older across countries in Europe, and our plans to secure access to KALYDECO for additional eligible patients four months of age and older in Europe. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of risks and uncertainties that could cause actual events or results to differ materially from those expressed or implied by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, risks related to commercializing KALYDECO in Europe, and other risks listed under Risk Factors in Vertex's most recent annual report and subsequent quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. You should not place undue reliance on these statements. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

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Vertex Announces European Commission Approval for KALYDECO (ivacaftor) as First and Only CFTR Modulator to Treat Eligible Infants With Cystic Fibrosi...

WIRED Health:Tech is one of the most prominent annual conferences exploring technological advances in medicine. This year, the main topics included artificial intelligence, remote surgical systems, and the ongoing fight against COVID-19.

This years WIRED Health:Tech conference took place online last month, in an effort to adapt to the challenges posed by the current pandemic.

A range of specialists held presentations about the latest advances in medical technology, including remote surgical systems, e-health, CRISPR technology, and the issue on everyones mind this year: how research can combat the COVID-19 pandemic.

In this Special Feature, we offer an overview of the panels and main takeaways from the presentations.

Stay informed with live updates on the current COVID-19 outbreak and visit our coronavirus hub for more advice on prevention and treatment.

Throughout many of the WIRED Health:Tech presentations, the recurring theme was how technology is helping or hindering the fight against SARS-CoV-2, the coronavirus that has given rise to the current pandemic.

Prof. Heidi Larson from the London School of Hygiene & Tropical Medicine in the United Kingdom spoke of the global response to vaccines, an issue of paramount importance in the context of the pandemic.

Prof. Larson noted that according to her and her colleagues research which appears in The Lancet peoples feelings about vaccines have become far more volatile.

Its a lot more like political opinion polling. They used to be much more stable 1020 years ago. You knew who agreed and who was less confident around vaccines, but thats changing very frequently, she observed.

However, she did offer some positive news:

The overall picture is that [] there is a general trend where people are becoming a little more confident [about vaccines] than they were 5 years ago.

According to Prof. Larson, this may be because public health specialists and communicators are more proactive in dismantling pervasive myths about vaccination over the past few years.

Nevertheless, she cautioned, we do see that Europe remains the lowest in confidence, the most skeptical, with countries like Lithuania [where] only 19% strongly believe that vaccines are safe. The highest [rate] is [in] Finland, at 66% and thats just strongly believe.'

Poland had the most significant drop in confidence in vaccines, she noted.

She also emphasized these fluctuations in confidence in vaccines across the globe occurred before the pandemic. In the current situation, Prof. Larson said, sentiments surrounding vaccinations have become even more volatile.

Because of the hyper-uncertainty and the whole environment of trust and distrust around the COVID vaccine, there are groups that have gotten together to resist even the COVID vaccine, she warned.

The danger of anti-vaccination mentalities can only be mitigated by giving science more of a human face, Prof Larson argued:

We need to bring together the scientific, technological advances that are so valuable, and not lose the human face, but bring that back together [with the scientific perspective]. This isnt just a misinformation problem. This is a relationship problem. This is a cultural revolution, saying we need to change, we need to get back to a more human face in the scientific and medical field.'

Prof. Devi Sridhar a public health advisor and the chair of the Global Public Health department at the University of Edinburgh in the U.K. spoke of the next steps in the fight against the pandemic.

Speaking of the U.K. situation, Prof. Sridhar said that there are certain key actions that the country needs to take to put a stop to the spread of the virus more efficiently:

I think the crucial thing is getting the testing sorted. You need to have a test turnaround time [of] less than 24 hours and have testing widely available. And also [] a strategy: What is the point of a lockdown, what [is] the point of the restrictions?

Other countries have used the lockdown Im thinking of New Zealand, Taiwan, Vietnam, Thailand, Australia [] but theyre using the lockdown to try and eliminate the virus, to get rid of it, and then put in place checks for reimportation, she added.

Prof. Agnes Binagwaho vice chancellor at the University of Global Health Equity in Rwanda went on to speak of the innovations that Rwandan authorities implemented to curb the spread of the new coronavirus in the country.

Prof. Binagwaho said that the first step was to identify both the obstacles and facilitators when it came to stopping the spread of SARS-CoV-2.

According to the expert, having a clear idea of these factors allowed the authorities to establish the best strategy for containing the spread of the virus.

Most importantly, however, according to Prof. Binagwaho, Rwandan authorities made sure to keep its citizens up-to-date with all the daily news regarding the local spread of the virus both good and bad.

[W]hen you need the population to do something to protect itself [] that is not usual, trust counts more than money, she commented.

Some of the technological innovations that the country implemented during the pandemic were robots that take peoples temperatures in airports and hospitals, to limit human contact, and drones that carry supplies to areas that lack appropriate resources.

Prof. Christofer Toumazou from Imperial College London in the U.K. spoke of how technological advances could help during the current pandemic.

Prof. Toumazou, an electronic engineer, created DnaNudge, a fast and accessible DNA testing technology. Its original purpose was helping people understand what health conditions their genetic makeup might predispose them to, so they could make healthier choices.

At WIRED, the researcher and his colleagues said that they adapted this technology to detect COVID-19, creating tests with a turnaround time of only 90 minutes.

In the U.K., the government ordered 5.8 million such tests for state hospitals.

Effectively, it took a pandemic for us to get a technology thats [] prepared for personalized medicine into the hospital system. So the only way that we could bulldoze this was through COVID, Prof. Toumazou noted.

The researcher emphasized just how important this step may be for health, particularly for people with mental health conditions, who would not have to anxiously wait for 48 hours in isolation for their test results.

In a panel discussion, Dr. Indra Joshi director of Artificial Intelligence at NHSx, the U.K. governmental unit responsible for developing national health policies also went on to stress that advanced technology may help not just to better understand the pathology of COVID-19, but also to identify the people who are most at risk.

This, she added, could allow healthcare professionals to provide help faster to those who are likely to be the most affected by infection with the new coronavirus.

In Dr. Joshis view, advances in technology could therefore offer a holistic view of a persons health status and risks, beyond diagnosing COVID-19.

Another panel discussion focused on recent developments in finding a vaccine against the new coronavirus.

The two participants were Tal Zaks, Chief Medical Officer of Moderna Therapeutics, and Prof. Uur ahin, co-founder and CEO of BioNTech.

Both Moderna and BioNTech are testing mRNA candidate vaccines, which use genetic information rather than a viral base to train the immune system against the new coronavirus.

Speaking of the advantages of an mRNA vaccine versus other forms of vaccines, Zaks said that it is better in a number of fundamental ways.

The first is that because we start with genetic information, there is a component of speed that allows you to get into the clinic and then, once youre in the clinic, scale-up manufacturing. Its not by chance that the two leading efforts both leverage mRNA technologies, he pointed out.

I think the second one [] is the biological preciseness so, when you make a recombinant protein, or you otherwise characterize a biologic, the process makes a lot of difference and a lot of things can go wrong. When youre transmitting the [genetic] information, theres no way for the cell to make the wrong bit. So the biological fidelity, if you will, has a higher likelihood to then translate into the kind of immune response you want.

Tal Zaks

I think the last element here is its a very flexible platform, and this takes us a little bit beyond COVID, but the infrastructure required is relatively small and quick, which means, in the manufacturing space, you have tremendous agility that usual technologies dont, Zaks added.

At the time of the WIRED conference, clinical trials for the Moderna and BioNTech candidate vaccines were at similar stages. Since the two approaches have similar premises, the question arises: does this create a sense of competition between the two companies?

According to Zaks, in the context of a pandemic, this is not a valid question. I only have two competitors here: the virus and the clock, he asserted.

He added that should both the Moderna and the BioNTech candidate vaccines demonstrate safety and efficacy, this would be an ideal situation.

The world needs more than one company to succeed here, he said, noting that, if the virus is truly here to stay, as previous research suggests, more than one vaccine may become necessary in the long run.

Prof. ahin agreed:

The way [in which] the whole industry developed vaccines against COVID-19 [] is the best performance of collaboration. Its important to see how people team up for collaboration. Moderna teamed up with the NIH [the National Institutes of Health], we teamed up with Pfizer, AstraZeneca teamed up with Oxford University. So there are several models of collaboration, and we have the strongest transparency in the development of a vaccine.

People see the data almost in real-time coming in, and people understand how [a] phase 1 trial works, how a phase 3 trial works, and Moderna and we even shared our phase 3 protocols so that everyone can see in a transparent fashion how the studies perform and how they are evaluated, Prof. ahin added.

The two researchers also emphasized that this sense of transparency regarding the development of new pharmaceutical products is essential in the long run. They also expressed hope that it may persist after the pandemic subsides.

When asked whether the candidate vaccine development was rushed, so that pharmaceuticals can distribute them sooner rather than later, Prof. ahin explained that the pandemic has caused researchers to find a better, more efficient method of proceeding with clinical trials not a less reliable one.

One important aspect is that instead of skipping [steps] or cutting corners, we decided to do things in parallel. Usually, [in] vaccine development [] you do a phase 1 study, and maybe 6 or 12 months later a phase 2 study, and then decide whether you would do a phase 3 study, he explained.

This is based on minimizing the cost risk, but also based on the traditional way [in which a vaccine] is developed. It is not the best way it is just the traditional way, he also emphasized.

While many of the talks at WIRED Health:Tech revolved around the fight against COVID-19, some also focused on other technological advances in improving patient care.

Dr. Eric Topol founder and director of the Scripps Research TranslationalInstitute talked about using technology to make medicine more humanistic.

The main objective of AI for healthcare and medicine has been to improve accuracy, so that doctors can improve how they diagnose disease and care for their patients, he observed.

This is what is known as precision medicine. But Dr. Topol believes that using AI in medical practice could bring about more far-reaching benefits.

This could include freeing healthcare practitioners from tasks, such as filing information about their patients into digital systems, so that they can pay more attention to their patients.

Medicine has eroded terribly its a rushed job, Dr. Topol asserted in his talk. We see patients in a single-digit number of minutes, and thats not enough.

You need the gift of time, which AI can give back so that people dont feel so rushed and doctors and nurses and clinicians dont feel so rushed either. [] We want to have clinicians and doctors spending more time with patients and less time [at the computer] keyboard.

Dr. Pearse Keane a National Institute for Health Research clinician-scientist at the Institute of Ophthalmology at University College London spoke of how doctors could soon use AI algorithms to diagnose and treat early-stage retinal diseases a set of eye problems that can lead to vision loss.

Dr. Keane made a similar point to Dr. Topols argument, stressing that so many people are affected by eye diseases in the U.K. that specialists are often overwhelmed by the sheer amount of patients waiting for diagnosis and treatment.

Some people are essentially going blind because they cannot be seen and treated early enough, Dr. Keane said. But new technologies and in particular, AI, have at least some role in addressing this problem, he added.

Dr. Keane and colleagues from Moorfields Eye Hospital collaborated with scientists specializing in using the AI technology DeepMind, in demonstrating how to train the system to diagnose retinal diseases correctly and fast-track referrals for specialist treatment.

The researchers published the results of their study in Nature Medicine in 2018. Now, Moorfields Eye Hospital are building a new care and research center, with plans to integrate more advanced technology into this setting.

But Dr. Keane argues that clinical AI help by linking various health data, therefore offering a bigger picture of a persons overall health status and health risks.

Dr. Mark Slack chief medical officer and co-founder of CMR Surgical spoke of the potential of Versius, a surgical robotic system that can help specialists carry out minimally invasive keyhole surgery.

Is keyhole surgery better than open surgery? There are huge advantages for keyhole surgery, Dr. Slack asserted in his presentation.

If you have a large wound [following open surgery], about 50% of those patients will go back to the hospital. If you have a small, minimal-access wound, almost none will go back. If you have a large wound, about a fifth of patients will be required to go back into [the operating] theater if they get a wound infection [] [but] roughly 50% of complications are reduced by having keyhole surgery rather than open [surgery].

Dr. Mark Slack

Finally, Prof. Jennifer Doudna a biochemist at UC Berkeley and founder of the Innovative Genomics Institute, who co-invented CRISPR technology spoke of the revolutionary potential of gene editing. This new technology has taken the medical research world by storm.

Prof. Doudna described gene-editing technology as molecular surgery its a way to alter the DNA in cells and organisms in ways that allow precise correction of disease-causing [genetic] mutations and also allow scientists to do all sorts of other kinds of manipulations of genetic material on living cells and organisms, she explained.

One way in which gene-editing tools might be helpful, she said, might be by helping treat severe blood disorders such as sickle cell disease. Other applications might be in the treatment of eye diseases or even muscular dystrophy.

The scientist explained that, besides CRISPR technologys potential in treating disease, it could also come in handy when detecting viruses, including the new coronavirus.

She even suggested that in the coming months, there may be a CRISPR-based point-of-care diagnostic tool that could help doctors identify infections much faster.

She concluded her talk by noting that:

The potential of this technology continues to advance. I think the keys will be delivery and control of the editing and, of course, ensuring safety, effectiveness, and access. The possibilities are extraordinary its really an exciting time to be working in this field.

For live updates on the latest developments regarding the novel coronavirus and COVID-19, click here.

Read more from the original source:
WIRED Health:Tech 2020: Latest advances and the fight against COVID-19 - Medical News Today

The Global Companion Diagnostics Market Report, published by Emergen Research, offers a complete assessment of the major segments of the global Companion Diagnostics market, estimating the market growth rate over the forecast timeline (2020-2027). The latest research report can be viewed as a valuable source of data and information about this particular business sphere. Our team of market experts has performed a thorough future market growth analysis and assessed the demand & supply graphs and the markets historical and future revenue generation. The report is equipped with a vivid description of the current trends of the global Companion Diagnostics market. It holds an unbiased perspective of the leading market players, intense competition, the major regions/countries, end-use industries, and a broad continuum of products available in this market. Therefore, the market intelligence report offers a 360 view of the global Companion Diagnostics industry and provides significant information pertinent to the various growth-inducing and growth-restraining factors in detail.

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Companion Diagnostics Market should experience the strongest growth of 2027 with the main key players Agilent Technologies, Foundation Medicine,...

Judge Amy Coney Barrett delivers remarks after President Donald Trump announces her nomination to the U.S. Supreme Court, Sept. 26, 2020, in the Rose Garden of the White House. The event is believed to be responsible for the spread of COVID-19 among some attendees. (Official White House Photo by Andrea Hanks, Public Domain)

Since it was revealed in early October, details about President Trumps COVID-19 infection have been in short supply, including the likely source of his exposure and when he was tested.

New research from the Fred Hutchinson Cancer Research Center in Seattle gives a glimpse into the spread of the disease among Americas first family and White House staff and guests.

Two journalists who directly interacted with White House officials at the end of September but were not in each others company contracted variations of the virus that were highly genetically similar. The genetic code from the SARS-CoV-2, the virus that causes COVID, that infected the journalists contained five unique mutations and were distinct from the genomes of more than 160,000 publicly available virus sequences.

The scientists said this particular lineage of the virus was first documented in the U.S. in April or May, but its exact spread from there was unclear.

Shortly after Trump was infected, Anthony S. Fauci the nations top infectious-disease expert said that the White House had been the site of a so-called super spreader event when it hosted a Rose Garden reception for Judge Amy Coney Barrett, now a member of the U.S. Supreme Court. Photos show that many in attendance did not wear masks. At least 50 COVID-19 cases have been connected to an outbreak associated with the White House, according to the researchers.

Trump Administration officials at the time of the outbreak made little effort to do contact tracing to potentially help contain the spread a decision that drew criticism from some health experts.

When it comes to the source of the White House infections, its sort of an unknowable question, where it entered the environment, said White House deputy press secretary Brian Morgenstern, in a press conference on Oct. 7.

The Fred Hutch-led research calls that assertion into question. While its too late to use the information to limit spread from the initial event, genomic sequencing could provide additional insights into the path of transmission if more samples were tested. It could also help build a more complete picture of the outbreaks spread by analyzing infections that occur weeks or months following the White House event.

Weve seen repeatedly with COVID-19 that the absence of scientific statements provides shelter for speculation and even conspiracy theories to grow. My strategy since January has been to try to address these issues as directly and transparently as I can, said Trevor Bedford, the studys lead.

That includes debunking unfounded theories about COVID spreading in California in the fall of 2019, or being created in a lab.

I still believe that science plays a role in dampening speculation and getting society to a firmer, shared factual footing, Bedford said.

The new investigation was shared Sunday as a pre-print of non peer-reviewed research, posted on medRxiv. The site, pronounced med-archive is a free platform that in recent months has featured up-to-the-minute research during the COVID pandemic.

The studys researchers include scientists from the University of Washington, Seattles Brotman Baty Institute for Precision Medicine, and Howard Hughes Medical Institute in Seattle.

Bedford and his team have done similar lineage analysis for public health departments in Washington, Florida, California, Utah, Minnesota and Michigan, as well as the U.S. Centers for Disease Control and Prevention, the European Centre for Disease Prevention and Control and Public Health England.

A story in the New York Times on Sunday shared the source of the two samples as being Times reporters. One had traveled with the president and other staff on Air Force One on Sept. 26, coming in close proximity with Trump, who was not wearing a mask. On the same day, a second journalist covered the Rose Garden event as well as a news conference the next day, with exposure to unmasked officials who later tested positive.

Both journalists, who wore masks, opted to share their identities, according to the Times.

The researchers ended the study pre-print with a slightly exasperated call to action on the U.S. COVID response.

Science has made a great many discoveries and innovations since [the 1918 influenza pandemic], with genome sequencing being a fairly recent addition to the toolkit to combat infectious disease, they wrote. We, as a society, have the tools to control COVID-19, they just have to be employed.

Read this article:
Fred Hutch researchers uncover new genetic details of White House COVID-19 outbreak - GeekWire

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Nov 5, 2020--

bluebird bio, Inc. (Nasdaq: BLUE) announced today that data from its gene and cell therapy programs for sickle cell disease (SCD), transfusion-dependent beta-thalassemia (TDT) and multiple myeloma (MM) will be presented, including seven oral presentations, at the 62 nd American Society of Hematology (ASH) Annual Meeting and Exposition, taking place virtually from December 5-8, 2020.

Updated results from patients in Group C of the companys Phase 1/2 HGB-206 study of LentiGlobin for SCD gene therapy (bb1111) will be presented.

bluebird bio will also present updated long-term efficacy and safety results from the LTF-303 follow-up study; outcomes across genotypes; and outcomes in pediatric patients from Phase 3 studies HGB-207 and HGB-212 of betibeglogene autotemcel (beti-cel; formerly LentiGlobin for -thalassemia) in TDT.

Data from across the companys multiple myeloma program will be presented. Presentations will include updated safety and efficacy results from the Phase 1 CRB-401 clinical study of idecabtagene vicleucel (ide-cel, bb2121) and preliminary data from the ongoing Phase 1 CRB-402 clinical study of bb21217, as well as subgroup analyses of the pivotal Phase 2 KarMMa study of ide-cel. Ide-cel and bb21217 are investigational B-cell maturation antigen (BCMA)-directed chimeric antigen receptor (CAR) T cell immune therapies being studied, in partnership with Bristol-Myers Squibb, for the treatment of adult patients with MM.

Sickle Cell Disease Data at ASH

Improvements in Health-Related Quality of Life for Patients Treated with LentiGlobin for Sickle Cell Disease (bb1111) Gene Therapy

Presenting Author: Julie Kanter, MD, University of Alabama at Birmingham, Birmingham, AL

Date/Time: Oral #365, Sunday, December 6, 2020, 9:45 am PST

Resolution of Serious Vaso-occlusive Pain Crises and Reduction in Patient-Reported Pain Intensity: Results from the Ongoing Phase 1/2 HGB-206 Group C Study of LentiGlobin for Sickle Cell Disease (bb1111) Gene Therapy

Presenting Author: Alexis A. Thompson, MD, Hematology Section Head, Ann & Robert H. Lurie Childrens Hospital, Chicago, IL

Date/Time: Oral #677, Monday, December 7, 2020, 1:30 pm PST

The GRNDaD Registry: Contemporary Natural History data and an analysis of real-world patterns of use and limitations of Disease Modifying Therapy in adults with SCD

Presenting Author: Alexandra Boye-Doe, MD, University of North Carolina School of Medicine, Chapel Hill, NC

Date/Time: Poster #1730, Sunday, December 6, 2020, 7:00 am 3:30 pm PST

Transfusion-Dependent -Thalassemia Data at ASH

Long-Term Efficacy and Safety of Betibeglogene Autotemcel Gene Therapy for the Treatment of Transfusion-Dependent -Thalassemia: Results in Patients with up to 6 Years of Follow-up

Presenting Author: Janet L. Kwiatkowski, MD, MSCE, Director, Thalassemia Center at Children's Hospital of Philadelphia, Philadelphia, PA

Date/Time: Oral #153, Saturday, December 5, 2020, 12:00 pm PST

Favorable Outcomes in Pediatric Patients in the Phase 3 HGB-207 (Northstar-2) and HGB-212 (Northstar-3) Studies of betibeglogene autotemcel Gene Therapy for the Treatment of Transfusion-dependent -thalassemia

Presenting Author: Alexis A. Thompson, MD, MPH, Hematology Section Head, Ann & Robert H. Lurie Childrens Hospital of Chicago, Chicago, IL

Date/Time: Oral #154, Saturday, December 5, 2020, 12:15 pm PST

Improvement in Erythropoiesis Following Treatment with Betibeglogene Autotemcel Gene Therapy in Patients with Transfusion-Dependent -Thalassemia in the Phase 3 HGB-207 Study

Presenting Author: John B. Porter, MA, MD, FRCP, FRCPath, Head of Red Cell Unit, University College London Hospital, London, UK

Date/Time: Poster #776, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

Response of patients with transfusion-dependent -thalassemia (TDT) to betibeglogene autotemcel (beti-cel; LentiGlobin for -thalassemia) gene therapy based on HBB genotype and disease genetic modifiers

Presenting Author: Mark C. Walters MD, Medical Director, Jordan Family Center for BMT & Cellular Therapies Research, UCSF Benioff Childrens Hospital Oakland, Oakland, CA

Date/Time: Poster #1699, Sunday, December 6, 2020, 7:00 am 3:30 pm PST

Multiple Myeloma Data at ASH

Updated results from the Phase I CRB-402 study of anti-BCMA CAR-T cell therapy bb21217 in patients with relapsed and refractory myeloma: correlation of expansion and duration of response with T cell phenotypes

Presenting Author: Melissa Alsina, MD, Department of Blood and Marrow Transplantation and Cellular Immunotherapy, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL

Date/Time: Oral #130, Saturday, December 5, 2020, 9:45 am PST

Idecabtagene Vicleucel (ide-cel, bb2121), a BCMA-directed CAR T cell therapy, in patients with relapsed and refractory multiple myeloma: updated results from phase 1 CRB-401 study

Presenting Author: Yi Lin, MD, PhD, Division of Hematology, Mayo Clinic, Rochester, MN

Date/Time: Oral #131, Saturday, December 5, 2020, 10:00 am PST

Secondary Quality-of-Life Domains in Patients With Relapsed and Refractory Multiple Myeloma Treated With the BCMA-Directed CAR T Cell Therapy Idecabtagene Vicleucel (ide-cel; bb2121): Results from the KarMMa Clinical Trial

Author: Nina Shah, MD, University of California San Francisco, San Francisco, CA

Date/Time: Oral #437, Sunday, December 6, 2020, 12:15 pm PST

Efficacy and Safety of Idecabtagene Vicleucel (ide-cel, bb2121) in Elderly Patients with Relapsed/Refractory Multiple Myeloma: KarMMa Subgroup Analysis

Presenting Author: Jess Berdeja, MD, Sarah Cannon Research Institute and Tennessee Oncology, Nashville, TN

Date/Time: Poster #1367, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

Characterization of Cytokine Release Syndrome in the KarMMa Study of Idecabtagene Vicleucel (ide-cel, bb2121) For Relapsed and Refractory Multiple Myeloma

Presenting Author: Ankit Kansagra, MD, Simmons Comprehensive Cancer Center, UT Southwestern Medical Center, Dallas, TX

Date/Time: Poster #1378, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

Molecular and Phenotypic Profiling of Drug Product and Post-infusion Samples from CRB-402, an Ongoing: Phase I Clinical Study of bb21217 a BCMA-directed CAR T Cell Therapy

Presenting Author: Olivia Finney, PhD, Associate Director, Immunotherapy, bluebird bio

Date/Time: Poster #1401, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

Effects of Prior Alkylating Therapies on Preinfusion Patient Characteristics and Starting Material for CAR T Cell Product Manufacturing in Late-Line Multiple Myeloma

Presenting Author: Julie Rytlewski, PhD, Bristol Myers Squibb, Princeton, NJ

Date/Time: Poster #1405, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

KarMMa-4: Idecabtagene Vicleucel (ide-cel, bb2121), a BCMA-Targeted CAR T Cell Therapy, in High-Risk Newly Diagnosed Multiple Myeloma

Presenting Author: Saad Z. Usmani, MD, Director, Clinical Research in Hematologic Malignancies, Levine Cancer Institute/Atrium Health, Charlotte, NC

Date/Time: Poster #1418, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

Healthcare Resource Utilization and Cost of Cytokine Release Syndrome and Neurologic Events in Patients with Relapsed and Refractory Multiple Myeloma Receiving the BCMA-directed CAR T Cell Therapy Idecabtagene Vicleucel (ide-cel, bb2121) in the KarMMa Trial

Presenting Author: Parmeswaran Hari, MD, Medical College of Wisconsin, Milwaukee, WI

Date/Time: Poster #1598, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

A Matching-Adjusted Indirect Comparison of Efficacy Outcomes for Idecabtagene Vicleucel (ide-cel, bb2121), a BCMA-directed CAR T Cell Therapy Versus Conventional Care in Triple-Class Exposed Relapsed and Refractory Multiple Myeloma

Presenting Author: Nina Shah, MD, University of California San Francisco, San Francisco, CA

Date/Time: Poster #1653, Saturday, December 5, 2020, 7:00 am 3:30 pm PST

Idecabtagene Vicleucel (ide-cel, bb2121) Responses Are Characterized by Early and Temporally Consistent Activation and Expansion of CAR T Cells With a T Effector Phenotype

Presenting Author: Nathan Martin, PhD, Bristol Myers Squibb, Princeton, NJ

Date/Time: Poster #2315, Sunday, December 6, 2020, 7:00 am 3:30 pm PST

KarMMa-3: A Phase 3 Study of Idecabtagene Vicleucel (ide-cel,bb2121), a BCMA-Targeted CAR T Cell Therapy Versus Standard Regimens in Relapsed and Refractory Multiple Myeloma

Presenting Author: Michel Delforge, MD, PhD, University Hospital Leuven, Leuven, Belgium

Date/Time: Poster #2323, Sunday, December 6, 2020, 7:00 am 3:30 pm PST

Idecabtagene Vicleucel (ide-cel, bb2121) in Relapsed and Refractory Multiple Myeloma: Analyses of High-Risk Subgroups in the KarMMa Study

Presenting Author: Noopur S. Raje, MD, Massachusetts General Hospital, Boston, MA

Date/Time: Poster #3234, Monday, December 7, 2020, 7:00 am 3:00 pm PST

Health State Utility Valuation in Patients with Triple-Class Exposed Relapsed and Refractory Multiple Myeloma Treated with the BCMAdirected CAR T Cell Therapy, Idecabtagene Vicleucel (idecel, bb2121): Results from the KarMMa Trial

Presenting Author: Michel Delforge, MD, PhD, University Hospital Leuven, Leuven, Belgium

Date/Time: Poster #3465, Monday, December 7, 2020, 7:00 am 3:00pm PST

Abstracts outlining bluebird bios accepted data at ASH are available on the ASH conference website.

About LentiGlobin for SCD (bb1111)

SCD is a serious, progressive and debilitating genetic disease caused by a mutation in the -globin gene that leads to the production of abnormal sickle hemoglobin (HbS), causing red blood cells (RBCs) to become sickled and fragile, resulting in chronic hemolytic anemia, vasculopathy and painful vaso-occlusive events (VOEs). For adults and children living with SCD, this means unpredictable episodes of excruciating pain due to vaso-occlusion as well as other acute complicationssuch as acute chest syndrome (ACS), stroke, and infections, which can contribute to early mortality in these patients.

LentiGlobin for SCD (bb1111) is an investigational gene therapy being studied as a potential treatment for SCD. bluebird bios clinical development program for LentiGlobin for SCD includes the ongoing Phase 1/2 HGB-206 study and the ongoing Phase 3 HGB-210 study.

LentiGlobin for SCD was designed to add functional copies of a modified form of the -globin gene ( A-T87Q -globin gene) into a patients own hematopoietic (blood) stem cells (HSCs). Once patients have the A-T87Q -globin gene, their red blood cells can produce anti-sickling hemoglobin (Hb A-T87Q ) that decreases the proportion of HbS, with the goal of reducing sickled red blood cells, hemolysis and other complications.

As of March 3, 2020, a total of 37 patients have been treated with LentiGlobin for SCD to-date in the HGB-205 (n=3) and HGB-206 (n=34) clinical studies. The HGB-206 total includes: Group A (n=7), B (n=2) and C (n=25).

LentiGlobin for SCD received orphan medicinal product designation from the European Commission for the treatment of SCD, and Priority Medicines (PRIME) eligibility by the European Medicines Agency (EMA) in September 2020.

The U.S. Food and Drug Administration (FDA) granted orphan drug designation, fast track designation, regenerative medicine advanced therapy (RMAT) designation and rare pediatric disease designation for LentiGlobin for SCD. LentiGlobin for SCD continues to be evaluated in the ongoing Phase 1/2 HGB-206 and Phase 3 HGB-210 studies.

bluebird bio is conducting a long-term safety and efficacy follow-up study (LTF-303) for people who have participated in bluebird bio-sponsored clinical studies of LentiGlobin for SCD. For more information visit: https://www.bluebirdbio.com/our-science/clinical-trials or clinicaltrials.gov and use identifier NCT02633943 for LTF-303.

LentiGlobin for SCD is investigational and has not been approved in any geography.

About betibeglogene autotemcel

Transfusion dependent beta-thalassemia (TDT) is a severe genetic disease caused by mutations in the -globin gene that result in reduced or significantly reduced hemoglobin (Hb). In order to survive, people with TDT require chronic blood transfusions to maintain adequate Hb levels. These transfusions carry the risk of progressive multi-organ damage due to unavoidable iron overload.

Betibeglogene autotemcel (beti-cel) adds functional copies of a modified form of the -globin gene ( A-T87Q -globin gene) into a patients own hematopoietic (blood) stem cells (HSCs). Once a patient has the A-T87Q -globin gene, they have the potential to produce HbA -T87Q, which is gene therapy-derived adult hemoglobin, at levels that may eliminate or significantly reduce the need for transfusions.

The European Commission granted conditional marketing authorization (CMA) for beti-cel, marketed as ZYNTEGLO gene therapy, for patients 12 years and older with transfusion-dependent -thalassemia (TDT) who do not have a 0 / 0 genotype, for whom hematopoietic stem cell (HSC) transplantation is appropriate, but a human leukocyte antigen (HLA)-matched related HSC donor is not available.

As of March 3, 2020, a total of 60 pediatric, adolescent and adult patients, including 11 patients with at least 5 years of follow-up, across genotypes of TDT have been treated with beti-cel in the Phase 1/2 Northstar (HGB-204) and HGB-205 studies, and the Phase 3 Northstar-2 (HGB-207) and Northstar-3 (HGB-212) studies. In studies of beti-cel, patients were assessed for transfusion independence, defined as no longer needing red blood cell transfusions for at least 12 months while maintaining a weighted average Hb of at least 9 g/dL.

Non-serious adverse events (AEs) observed during clinical studies that were attributed to beti-cel included abdominal pain, thrombocytopenia, leukopenia, neutropenia, hot flush, dyspnoea, pain in extremity, tachycardia and non-cardiac chest pain. One serious adverse event (SAE) of thrombocytopenia was considered possibly related to beti-cel.

Additional AEs observed in clinical studies were consistent with the known side effects of HSC collection and bone marrow ablation with busulfan, including SAEs of veno-occlusive disease. On April 28, 2020, the European Medicines Agency (EMA) renewed the CMA for beti-cel. The CMA for beti-cel is valid in the 27 member states of the EU as well as UK, Iceland, Liechtenstein and Norway. For details, please see the Summary of Product Characteristics (SmPC).

The U.S. FDA granted beti-cel orphan drug designation and Breakthrough Therapy designation for the treatment of TDT. Beti-cel is not approved in the United States. Beti-cel continues to be evaluated in the ongoing Phase 3 Northstar-2 (HGB-207) and Northstar-3 (HGB-212) studies.

bluebird bio is conducting a long-term safety and efficacy follow-up study (LTF-303) for people who have participated in bluebird bio-sponsored clinical studies of beti-cel.

About idecabtagene vicleucel (ide-cel, bb2121)

Ide-cel is a B-cell maturation antigen (BCMA)-directed genetically modified autologous chimeric antigen receptor (CAR) T cell immunotherapy. The ide-cel CAR is comprised of a murine extracellular single-chain variable fragment (scFv) specific for recognizing BCMA, attached to a human CD8 hinge and transmembrane domain fused to the T cell cytoplasmic signaling domains of CD137 4-1BB and CD3- chain, in tandem. Ide-cel recognizes and binds to BCMA on the surface of multiple myeloma cells leading to CAR T cell proliferation, cytokine secretion, and subsequent cytolytic killing of BCMA-expressing cells.

Ide-cel is being developed as part of a Co-Development, Co-Promotion and Profit Share Agreement between Bristol Myers Squibb and bluebird bio. Ide-cel was granted accelerated assessment by the European Medicines Agency (EMA) on March 26, 2020, and the Marketing Authorization Application (MAA) was validated by the EMA on May 20, 2020. The FDA accepted the ide-cel Biologics License Application (BLA) for priority review on September 22, 2020.

KarMMa (NCT03361748) is a pivotal, open-label, single-arm, multicenter, multinational, Phase 2 study evaluating the efficacy and safety of ide-cel in adults with RRMM in North America and Europe. The primary endpoint of the study is overall response rate as assessed by an independent review committee (IRC) according to the International Myeloma Working Group (IMWG) criteria. Complete response rate is a key secondary endpoint. Other secondary endpoints include time to response, duration of response, progression-free survival, overall survival, minimal residual disease evaluated by Next-Generation Sequencing (NGS) assay and safety. The study enrolled 140 patients, of whom 128 received ide-cel across the target dose levels of 150-450 x 10 6 CAR+ T cells after receiving lymphodepleting chemotherapy. All enrolled patients had received at least three prior treatment regimens, including an immunomodulatory agent, a proteasome inhibitor and an anti-CD38 antibody, and were refractory to their last regimen, defined as progression during or within 60 days of their last therapy.

CRB-401 (NCT02658929) is an open-label Phase 1 study evaluating the preliminary safety and efficacy of ide-cel in patients with relapsed and refractory multiple myeloma (RRMM). The primary endpoint of the study is safety. CRB-401 was designed as a two-part (dose escalation and dose expansion) study to determine the maximum tolerated dose and further evaluate the safety, tolerability and clinical activity at the recommended Phase 2 dose; these findings established the recommended dose of the Phase 2 KarMMa trial. All patients have been treated in the study and follow-up is ongoing.

In addition to the pivotal KarMMa and CRB-401 trials, bluebird bio and Bristol Myers Squibbs broad clinical development program for ide-cel includes clinical studies (KarMMa-2, KarMMa-3, KarMMa-4) exploring ide-cel combinations and activity in earlier lines of treatment for patients with multiple myeloma, including newly diagnosed multiple myeloma. For more information visit clinicaltrials.gov.

Ide-cel is not approved for any indication in any geography.

About bb21217

bb21217 is an investigational BCMA-targeted CAR T cell therapy that uses the ide-cel CAR molecule and is cultured with the PI3 kinase inhibitor (bb007) to enrich for T cells displaying a memory-like phenotype with the intention to increase the in vivo persistence of CAR T cells. bb21217 is being studied for patients with multiple myeloma in partnership with Bristol Myers Squibb.

bluebird bios clinical development program for bb21217 includes the ongoing Phase 1 CRB-402 study. CRB-402 is the first-in-human study of bb21217 in patients with relapsed and refractory multiple myeloma (RRMM), designed to assess safety, pharmacokinetics, efficacy and duration of effect. CRB-402 is a two-part (dose escalation and dose expansion), open-label, multi-site Phase 1 study of bb21217 in adults with RRMM. For more information visit: clinicaltrials.gov using identifier NCT03274219.

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bluebird bio to Present Data from Gene and Cell Therapy Programs During the 62nd American Society of Hematology (ASH) Annual Meeting and Exposition -...

DetailsCategory: Small MoleculesPublished on Thursday, 05 November 2020 11:37Hits: 150

Only PARP inhibitor to improve overall survival vs. new hormonal agent treatments in BRCA-mutated metastatic castration-resistant prostate cancer

LONDON, UK I November 5, 2020 I AstraZeneca and MSDs Lynparza (olaparib) has been approved in the European Union (EU) for patients with metastatic castration-resistant prostate cancer (mCRPC) with breast cancer susceptibility gene 1/2 (BRCA1/2) mutations, a subpopulation of homologous recombination repair (HRR) gene mutations.

Prostate cancer is the second-most common type of cancer in men, with an estimated 1.3 million patients diagnosed worldwide in 2018.1 Approximately 12% of men with mCRPC have a BRCA mutation.2

The approval by the European Commission was based on a subgroup analysis of the PROfound Phase III trial which showed Lynparza demonstrated a substantial improvement in radiographic progression-free survival (rPFS) and overall survival (OS) versus enzalutamide or abiraterone in men with BRCA1/2 mutations.

Lynparza is the first and only PARP inhibitor approved in the EU in biomarker-selected advanced prostate cancer. It follows therecommendation for approvalby the Committee for Medicinal Products for Human Use of the European Medicines Agency in September 2020.

Johann de Bono, one of the principal investigators of the PROfound Phase III trial, Head of Drug Development at The Institute of Cancer Research, London, and The Royal Marsden NHS Foundation Trust, said: This approval in the EU is a landmark moment that begins a new era of precision medicine in prostate cancer. Lynparza now provides a targeted treatment option at a molecular level to patients with advanced prostate cancer who have historically poor prognosis and few treatment options.

Dave Fredrickson, Executive Vice President, Oncology Business Unit, said: Lynparza more than tripled radiographic progression-free survival and is the only PARP inhibitor to show an overall survival benefit versus certain new hormonal agents for men with BRCA-mutated metastatic castration-resistant prostate cancer. This approval means BRCA testing should now become a critical step in the diagnosis and determination of treatment for men with advanced prostate cancer in the EU.

Roy Baynes, Senior Vice President and Head of Global Clinical Development, Chief Medical Officer, MSD Research Laboratories, said: The PROfound Phase III trial showed Lynparza provided a clinical benefit for men living with BRCA1/2-mutated metastatic castration-resistant prostate cancer, offering an important option to improve overall survival for these patients in the EU. MSD, along with our collaborator AstraZeneca, looks forward to making this targeted treatment available for patients across the EU as quickly as possible.

The subgroup analysis from the PROfound Phase III trial showed Lynparzareduced the risk of disease progression or death by 78% (based on a hazard ratio [HR] of 0.22, 95% confidence interval [CI], 0.15-0.32; nominal p<0.0001) and improved rPFS to a median of 9.8 months versus 3.0 with enzalutamide or abiraterone in men with mCRPC with BRCA1/2 mutations. Lynparza reduced the risk of death by 37% (based on a HR of 0.63, 95% CI 0.42-0.95) with median OS of 20.1 months versus 14.4 with enzalutamide or abiraterone.

The primary results and overall survival results from the PROfound Phase III trial were published in The New England Journal of Medicine earlier this year.

The full EU approved indication for Lynparza is for the treatment of adult patients with mCRPC and BRCA1/2 mutations (germline and/or somatic) who have progressed following prior therapy that included a new hormonal agent.

Lynparzawas approved in the US for men with HRR gene-mutated mCRPC inMay 2020based on the PROfound Phase III trial. Regulatory reviews are ongoing in other countries around the world.

AstraZeneca and MSD are exploring additional trials in metastatic prostate cancer including the ongoing PROpel Phase III trial testingLynparzaas a 1st-line treatment for patients with mCRPC in combination with abiraterone versus abiraterone alone. Data are anticipated in the second half of 2021.

Metastatic castration-resistant prostate cancer

Prostate cancer is associated with a significant mortality rate.1 Prostate cancer is often driven by male sex hormones called androgens, including testosterone. 3 In patients with mCRPC, prostate cancer grows and spreads to other parts of the body despite the use of androgen-deprivation therapy to block the action of male sex hormones.3 Approximately 10-20% of men with advanced prostate cancer will develop CRPC within five years, and at least 84% of these men will have metastases at the time of CRPC diagnosis. 4 Of men with no metastases at CRPC diagnosis, 33% are likely to develop metastases within two years. 4 Despite advances in treatment for men with mCRPC, five-year survival is low and extending survival remains a key treatment goal.4

BRCA mutations

BRCA1 and BRCA2 are human genes that produce proteins responsible for repairing damaged DNA and play an important role in maintaining the genetic stability of cells. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly, and cells become unstable. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer and confer sensitivity to PARP inhibitors includingLynparza.5-8

PROfound

PROfound is a prospective, multicentre, randomised, open-label, Phase III trial testing the efficacy and safety ofLynparzaversus enzalutamide or abiraterone in patients with mCRPC who have progressed on prior treatment with NHA treatments (abiraterone or enzalutamide) and have a qualifying tumour mutation in BRCA1/2, ATM or one of 12 other genes involved in the HRR pathway.

The trial was designed to analyse patients with HRR gene mutations in two cohorts: the primary endpoint was rPFS in those with mutations in BRCA1/2 or ATM genes and then, ifLynparzashowed clinical benefit, a formal analysis was performed of the overall trial population of patients with HRR gene mutations (BRCA1/2, ATM, CDK12 and 11 other HRR gene mutations). AstraZeneca and MSD announcedin August 2019that the trial met its primary endpoint of rPFS.

Lynparza

Lynparza (olaparib) is a first-in-class PARP inhibitor and the first targeted treatment to block DNA damage response (DDR) in cells/tumours harbouring a deficiency in HRR, such as mutations in BRCA1 and/or BRCA2. Inhibition of PARP with Lynparza leads to the trapping of PARP bound to DNA single-strand breaks, stalling of replication forks, their collapse and the generation of DNA double-strand breaks and cancer cell death. Lynparza is being tested in a range of PARP-dependent tumour types with defects and dependencies in the DDR pathway.

Lynparza is currently approved in a number of countries, including those in the EU, for the maintenance treatment of platinum-sensitive relapsed ovarian cancer. It is approved in the US, the EU, Japan, China, and several other countries as 1st-line maintenance treatment of BRCAm advanced ovarian cancer following response to platinum-based chemotherapy. It is also approved in the US as a 1st-line maintenance treatment with bevacizumab for patients with HRD-positive advanced ovarian cancer (BRCAm and/or genomic instability). Lynparza is approved in the US, Japan, and a number of other countries for germline BRCAm, HER2-negative, metastatic breast cancer, previously treated with chemotherapy; in the EU, this includes locally advanced breast cancer. It is also approved in the US, the EU and several other countries for the treatment of germline BRCAm metastatic pancreatic cancer. Lynparza is approved in the US for HRR gene-mutated mCRPC (BRCAm and other HRR gene mutations). Regulatory reviews are underway in several countries for ovarian, breast, pancreatic and prostate cancers.

Lynparza, which is being jointly developed and commercialised by AstraZeneca and MSD, has been used to treat over 30,000 patients worldwide. Lynparza has the broadest and most advanced clinical trial development programme of any PARP inhibitor, and AstraZeneca and MSD are working together to understand how it may affect multiple PARP-dependent tumours as a monotherapy and in combination across multiple cancer types. Lynparza is the foundation of AstraZenecas industry-leading portfolio of potential new medicines targeting DDR mechanisms in cancer cells.

The AstraZeneca and MSD strategic oncology collaboration

In July 2017, AstraZeneca and Merck & Co., Inc., Kenilworth, NJ, US, known as MSD outside the US and Canada, announced a global strategic oncology collaboration to co-develop and co-commercialise Lynparza, the worlds first PARP inhibitor, and Koselugo (selumetinib), a mitogen-activated protein kinase (MEK) inhibitor, for multiple cancer types. Working together, the companies will develop Lynparza and Koselugo in combination with other potential new medicines and as monotherapies. Independently, the companies will develop Lynparza and Koselugo in combination with their respective PD-L1 and PD-1 medicines.

AstraZeneca in oncology

AstraZeneca has a deep-rooted heritage in oncology and offers a quickly growing portfolio ofnew medicines that has the potential to transform patients lives and the Companys future. With seven new medicines launched between 2014 and 2020, and a broad pipelineof small molecules and biologics in development, the Company is committed to advance oncology as a key growth driver for AstraZeneca focused on lung, ovarian, breast and blood cancers.

By harnessing the power of four scientific platforms Immuno-Oncology, Tumour Drivers and Resistance, DNA Damage Response and Antibody Drug Conjugates and by championing the development of personalised combinations, AstraZeneca has the vision to redefine cancer treatment and, one day, eliminate cancer as a cause of death.

AstraZeneca

AstraZeneca (LSE/STO/Nasdaq: AZN) is a global, science-led biopharmaceutical company that focuses on the discovery, development and commercialisation of prescription medicines, primarily for the treatment of diseases in three therapy areas - Oncology, Cardiovascular, Renal & Metabolism, and Respiratory & Immunology. Based in Cambridge, UK, AstraZeneca operates in over 100 countries and its innovative medicines are used by millions of patients worldwide. Please visit astrazeneca.com and follow the Company on Twitter @AstraZeneca.

References

1. Bray et al. (2018). Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA: A Cancer Journal for Clinicians, 68(6), pp.394-424.

2. Abida et al. (2020). Rucaparib in Men With Metastatic Castration-Resistant Prostate Cancer Harboring a BRCA1 or BRCA2 Gene Alteration. Journal of Clinical Oncology, 38.

3. de Bono et al. (2020) Olaparib for Metastatic Castration-Resistant Prostate Cancer. New England Journal of Medicine, 382, pp.2091-102.

4. Cancer.Net. (2014). Treatment of metastatic castration-resistant prostate cancer. Available at: https://www.cancer.net/research-and-advocacy/asco-care-and-treatment-recommendations-patients/treatment-metastatic-castration-resistant-prostate-cancer. [Accessed September 2020]

5. Kirby, M. (2011). Characterising the castration-resistant prostate cancer population: a systematic review. International Journal of Clinical Practice, 65(11), pp.1180-1192.

6. Wu J, et al. (2010) The role of BRCA1 in DNA damage response. Protein Cell. 2010;1(2):117-123.

7. Roy R, et al. (2012). BRCA1 and BRCA2: different roles in a common pathway of genome protection. Nat Rev Cancer. 2011;12(1):68-78. Published 2011 Dec 23. doi:10.1038/nrc3181.

8. Gorodetska I, et al. (2019). BRCA Genes: The Role in Genome Stability, Cancer Stemness and Therapy Resistance. J Cancer. 2019;10(9):2109-2127.

SOURCE: AstraZeneca

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Lynparza approved in the EU for the treatment of BRCA- mutated metastatic castration-resistant prostate cancer | Small Molecules | News Channels -...

Newswise PHILADELPHIAThe international hunt to find more genetic risk markers for testicular cancer is expanding. A team of researchers led by Katherine L. Nathanson, MD, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in the Perelman School of Medicine at the University of Pennsylvania, was recently awarded $5.4 million over five years from the National Institutes of Health to continue the long-standing genomics work of the TEsticular CAncer Consortium (TECAC).

A total of nearly $7 million has been awarded to TECAC, which includes researchers from 27 institutions around the world, whose collaborative goal is understand the genetic susceptibility to testicular germ cell tumors (TGCT).

TGCT are the most common cancer in the United States and Europe in men between the ages of 15 to 45, and the number of cases has continued to rise over the past 40 years. Approximately 50 percent of the risk of disease is due to genetic factors, higher than for other cancer types.

To date, TECAC has identified 22 novel susceptibility alleles, bringing the total number of risk markers to 66. Nathanson led a study in 2017 published in Nature Genetics that identified eight of those markers in previously unknown gene regions, as well as four in previously identified regions.

Members of TECAC also were the first to identify CHEK2, a moderate penetrance gene for TGCT. Penetrance refers to the proportion of people with a mutation in specific gene. Unlike other solid tumor types (e.g. breast, ovarian), the inherited risk of TGCT is likely due to multiple variants rather than any single gene.

Our work has revealed critical roles for genetic variants and mutations in testicular germ cell tumors and defined the biology of TGCTs as associated with defects in maturation of male germ cells, but theres still much more to discover with this highly heritable disease, Nathanson said. This grant will allow us to continue to pool our resources and expertise to better understand its biology and etiology, as well as provide data that can help identify men at higher risk of the disease and in need of surveillance.

The latest round of funding will focus on three projects: identify rare and common variants using whole exome genetic sequencing from biosamples of more than 2,000 men; conduct a transcriptome-wide association study, or TWAS, to identify novel candidate susceptibility genes in nearly 250,000 men (the largest to date); and further evaluate any variants or gene discovered from those two projects using tools, such as CRISPR, in cells.

Other Penn collaborators on this grant (R01 CA164947 A1) include David Vaughn, Linda Jacobs, Li-San Wang and Mingyao Li.

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Penn Medicineis one of the worlds leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania(founded in 1765 as the nations first medical school) and theUniversity of Pennsylvania Health System, which together form a $8.6 billion enterprise.

The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $494 million awarded in the 2019 fiscal year.

The University of Pennsylvania Health Systems patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Centerwhich are recognized as one of the nations top Honor Roll hospitals byU.S. News & World ReportChester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nations first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is powered by a talented and dedicated workforce of more than 43,900 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2019, Penn Medicine provided more than $583 million to benefit our community.

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Penn Medicine Researchers Receive $5.4 million Grant to Find Genetic Drivers of Testicular Cancer - Newswise

BOSTON and MONTRAL, Oct. 29, 2020 /PRNewswire/ -enGeneInc.,abiotechnology company developing non-viral gene therapies for local administration into mucosal tissues enabled by its proprietary DDX platform, announced today an award from the Cystic Fibrosis Foundation for the discovery of genetic medicines to treat patients with cystic fibrosis (CF).

The award was made as a part of the CF Foundation's $500 million Path to a Cure initiative to accelerate the discovery and development of treatments that address the underlying cause of the disease.

Affecting over 75,000 patients worldwide, CF is a genetic disease caused by mutations in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) that render a non-functional CFTR protein. Consequently, multiple organs are affected by disease, chief among them the lungs, where chronic infections and a worsening ability to breathe leads to progressive lung damage and premature death. Patients with nonsense and other rare mutations in both copies of the CFTR gene currently have no therapies that treat the underlying cause of the disease.

"Gene therapy holds promise for the treatment of CF by delivering a functional copy of the CFTR gene to the lungs to restore function and alleviate disease. enGene is developing a DDX-based inhalable formulation to carry DNA to the airways with the goal of functional complementation of CFTR mutations. We are thrilled to have the support of the Cystic Fibrosis Foundation to discover novel gene therapy candidates for patients with CF," commented Jose Lora, CSO of enGene.

In developing an inhalable gene therapy for CF, enGene is coupling a non-viral DNA payload to its biocompatible DDX carrier in an effort to create genetic medicines that allow repeatable and titratable dosing to achieve meaningful efficacy.

"Gene therapies have made a remarkable impact in many fields of medicine, but unlocking their full potential in mucosal tissues such as the lung has been elusive, leaving many patients with CF without available treatment options. We are honored to be working with the CF Foundation to accelerate our research and development efforts towards improving and extending the lives of all CF patients," said Jason Hanson, enGene's President and CEO.

About enGene Inc.enGene Inc. is a biotechnology company developing a proprietary non-viral gene therapy platform for localized delivery of nucleic acid payloads to mucosal tissues. The dually derived chitosan (DDX) platform has a high-degree of payload flexibility including DNA and various forms of RNA with broad tissue and disease applications. In addition to developing gene therapies for the lungs, enGene has developed a unique dual-immune activator for patients with non-muscle invasive bladder cancer which has completed IND-enabling studies. The company is evolving its technology to enable applications in multiple mucosal tissues with areas of high unmet medical need.www.engene.com/

Note regarding forward-looking statementsThis press release contains certain "forward-looking statements" that reflect the Company's beliefs and assumptions based on currently available data and information. These forward-looking statements fall within the meaning of the "safe harbor" provisions of the U.S. Private Securities Litigation Reform Act of 1995. Forward-looking statements can be identified by words such as: "target," "believe," "expect," "will," "may," "anticipate," "estimate," "would," "positioned," "future," and other similar expressions that predict or indicate future events or trends or that are not statements of historical matters. Forward-looking statements are neither historical facts nor assurances of future performance. Instead, they are based only on enGene's current beliefs, expectations, and assumptions that by definition involve risks, uncertainties, that are difficult to predict and are subject to factors outside of management's control and that could cause actual results to differ substantially from statements made including but not limited to: risks associated with the success of preclinical studies, clinical trials, research and development programs, as well as regulatory approval processes. Actual results and outcomes may differ materially from those indicated in the forward-looking statements. enGene has no approved drugs available for sale marketing at this time and may never have an approved drug. You are cautioned not to rely on enGene's forward looking statements, which are only made as of the date hereof. The Company is under no obligation to update these statements.

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http://engene.com/

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enGene Receives Funding Through Cystic Fibrosis Foundation's Path to a Cure for the Discovery of Novel Gene Therapies to Treat Cystic Fibrosis -...

Scientists in Vienna have developed a new human tissue screening technique that has identified previously unknown genes involved in causing microcephaly, a rare genetic disorder, and that could one day be used to identify unknown genes tied to other conditions.

In a study published Thursday in Science, researchers screened lab-grown human brain tissues for 172 genes thought to be associated with microcephaly, a condition in which babies are born with smaller-than-normal brains and have severe mental impairments. The search revealed 25 new genes linked to this rare neurological condition, adding to the 27 already known genes tied to microcephaly. The researchers also uncovered the involvement of certain pathways that were previously unknown to be connected to the disease.

This is a proof of concept, said Jrgen Knoblich, a molecular biologist at the Austrian Academy of Sciences Institute of Molecular Biotechnology and co-author of the study. With our ability to query many diseased genes at the same time and ask which ones are relevant in a human tissue, we can now study other diseases and other organs.

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For decades scientists have relied on small animals as models to make sense of how a human brain develops. But it turns out that our brains are not blown-up versions of a rodent brain. Mice and rat brain surfaces, for instance, are smooth, unlike the shrivelled walnut look of a human brain, with its countless folds. Also, these rodents are born with a somewhat complete brain, in which most neurons are in place, although they continue to form new connections after birth. In a human child, on the other hand, there are a massive number of neurons that form and populate the cortex after birth.

There are some processes that happen in our brain and not in mice brains that are responsible for human brains becoming so big and powerful, Knoblich said. This generates a very big medical problem, which is how do we study processes that are only happening in humans.

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To address this problem, several scientists including Knoblich developed human brain organoids that are no bigger than a lentil, created from stem cells, and function just like a working human brain. With an interest in studying neurodevelopmental disorders like microcephaly, Knoblichs team used these miniature substitute brains to look for clues about the genes that may hamper brain development.

Typically, scientists conduct genetic screening by inactivating select genes one by one to understand their contribution to bodily functions. But screens of human genes are restricted to cells grown in petri dishes in two dimensions, in which cells dont interact very much.

Microcephaly is a tissue disease and we couldnt really study it in 2D, said Christopher Esk, a molecular biologist at the Austrian Academy of Sciences Institute of Molecular Biotechnology and co-lead author of the study.

So, the researchers developed a technique called CRISPR-Lineage Tracing at Cellular resolution in Heterogeneous Tissue, which uses the gene-editing technology to make cuts in DNA and knockout genes in combination with a barcoding technology that tracks parent stems and their progeny cells as the 3D brain organoid develops.

Using an organoid developed from cells of a microcephalus patient, they kept an eye out for mutations that gave rise to fewer cells and thus a small brain in comparison with a healthy one.

The researchers used CRISPR-LICHT to simultaneously screen 172 potential microcephaly causing gene candidates and found 25 to be involved.

Among them was a gene called Immediate Early Response 3 Interacting Protein 1 in the endoplasmic reticulum, which is the protein processing station within a cell. This protein processing is required to properly process other proteins, among them extracellular matrix proteins, which are in turn important for tissue integrity, and thus brain size, Esk said.

Kristen Brennand, a stem cell biologist at the Icahn School of Medicine at Mount Sinai in New York, who wasnt involved in the study, said she appreciated how the research captured this causal link. Clinical genetics can identify mutations in patients, but fall short of identifying causal mutations that definitively underlie disease risk, she said.

Going forward, Knoblich and his colleagues hope to use CRISPR-LICHT to screen many more genes that may be associated with other brain development disorders. Weve done it for microcephaly, and were already doing it for autism, he said. But the method can be applied to any type of organoid or any type of disease and any cell type.

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New screening tool could turn up genes tied to developmental disorders - STAT

SAN DIEGO, Oct. 27, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that human genetics researchers using the Saphyr system will present their results at the American Society of Human Genetics (ASHG) Annual Meeting, being held virtually at http://www.ashg.org between October 27-30. The impact of structural variation analysis using the Saphyr system will be demonstrated at ASHG with 18 oral and poster presentations which cover an expanding array of diseases like cancer predisposition, microdeletion syndromes, repeat expansion disorders, neurodegenerative diseases, disorders of sex development and a variety of other genetic diseases. Additionally, these presentations show Saphyrs abilities to elucidate the exact structure of complex genomic rearrangements such as large inversions, chromothripsis and low copy repeats.

The scientific importance and quality of the studies utilizing Saphyr and presented at ASHG have increased year over year, said Erik Holmlin, Ph.D., CEO of Bionano. As more scientists present and publish their important discoveries made with Saphyr, an increasing number of potential future Saphyr users become aware of its prowess in uncovering novel genetic variants that contribute to cancer and genetic disease, which could drive more adoption and utilization for basic genetic research and clinical studies alike.

Below is a summary of key presentations to be given at ASHG 2020 featuring the use of Bionanos optical genome mapping technology:

Live Presentation October 29, 2020, 11:45AM-12:00PMDeciphering Genomic InversionsChristopher M. Grochowski, Baylor College of MedicineGenomic inversions are a class of structural variation (SV) relevant in evolution, speciation, and human disease but challenging to detect and resolve using current genomic assays. While short-read WGS can detect a fraction of copy number neutral inversions, those mediated by repeats or accompanied by CNVs remain challenging. The utilization of multiple technologies and visualization of unbroken DNA through long molecule approaches facilitate detection ofin cisevents and resolution of SVs containing two or more breakpoint junctions.

The following Co-Labs, Poster Sessions and Abstracts are available for on-demand viewing during and after ASHG 2020:

Bionano Laboratory Co-Lab Session: Resolving Complex Haplotypes Implicated in Alzheimers and Other Neurodegenerative Diseases.Mark T. W. Ebbert, Neuroscience Department, Mayo ClinicAlzheimers disease is genetically complex with no meaningful therapies or pre-symptomatic disease diagnostics. Most of the genes implicated in Alzheimers disease do not have a known functional mutation, meaning there are no known molecular mechanisms to help understand disease etiology.

In this co-lab session, Mark T. W. Ebbert of the Mayo Clinic will discuss his teams work toward identifying functional structural mutations that drive disease in order to facilitate a meaningful therapy and pre-symptomatic disease diagnostic. Some of the genes and regions implicated in Alzheimers disease are genomically complex and cannot be resolved with short-read sequencing technologies. These regions include MAPT, CR1, and the histocompatibility complex (including the HLA genes).

3342 Bionano Poster Session: High Throughput Analysis of Disease Repeat Expansions and Contractions by Optical MappingErnest Lam, Sr Manager Bioinformatics, Bionano GenomicsRepeat expansions and contractions are associated with degenerative disorders such as facioscapulohumeral muscular dystrophy (FSHD). Southern Blotting is the gold standard for long repeat analysis but has many limitations. Optical genome mapping allows for efficient analysis of diseases associated with repeat expansion and contraction.

2190 Bionano Poster Session: Rapid Automated large Structural Variation Detection in Mouse Genome by Whole Genome SequencingJill Lai, Sr Applications Scientist, Bionano GenomicsIdentifying SVs for key model organisms such as mouse and rat is essential for genome interpretation and disease studies but has been historically difficult due to limitations inherent to available genome technologies. We updated the Saphyr analysis pipeline such that copy number variant (CNV) and SV analyses could now be applied to mouse and other non-human species, and constructed a control SV database for annotating variants, and identified strain-specific SVs/CNVs as well as variation shared among strains.

Additional presentations/abstracts featuring optical genome mapping:

3208 - Long-read sequencing and optical mapping decipher structural composition ofATXN10repeat in kindred with spinocerebellar ataxia and Parkinsons diseasePresented by Birgitt Schuele, Associate Professor, Department of Pathology, Stanford University School of Medicine

3270 - Uniparental isodisomy, structural and noncoding variants involved in inherited retinal degeneration (IRD) in three pedigreesPresented by Pooja Biswas, Ophthalmology Department, University of California, San Diego

Data CoLab: Whole Genome Map Assembly and Structural Variation Analysis with Hitachi Human Chromosome ExplorerPresented by Hitachi-High-Tech America, Inc.

2123 - High-throughput sequencing and mapping technologies applied to 10 human genomes with chromothripsis-like rearrangementsPresented by Uir Souto Melo, Mundlos Lab, Max Planck Institute for Molecular Genetics, Berlin, Germany

2165 -nanotatoR: A tool for enhanced annotation of genomic structural variantsPresented by Emmanuele Delot, Center for Genetic Medicine Research, Childrens National Hospital, Washington, DC

2998 - Highly variable structure and organization of the human 3q29 subtelomeric segmental duplicationsPresented by Umamaheswaran Gurusamy, Cardiovascular Research Institute, University of California San Francisco

2304 - Enlightening the dark matter of the genome: Whole genome imaging identifies a germline retrotransposon insertion inSMARCB1in two siblings with atypical teratoid rhabdoid tumorPresented by Mariangela Sabatella, Princess Mxima Center for Pediatric Oncology, Utrecht, Netherlands

2318 - FaNDOM: Fast Nested Distance-based seeding of Optical MapsPresented by Siavash Raeisi Dehkordi, Computer Science & Engineering, University of California San Diego, La Jolla

3023 - Structural hypervariability of low copy repeats on chromosome 22 is human specificPresented by Lisanne Vervoort, Department of Human Genetics, KU Leuven, Leuven, Belgium

3024 - Telomere-to-telomere assembly and complete comparative sequence analysis of the human chromosome 8 centromereReviewer's Choice Award RecipientPresented by Glennis Logsdon, Genome Sciences, University of Washington, Seattle, WA

3311 - Comprehensive structural variant identification with optical genome mapping and short-read sequencing for diagnosis of disorders/differences of sex development (DSD)Reviewer's Choice Award RecipientPresented by Hayk Barseghyan, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC

3318 - De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromePresented by H.J. Kao, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan

3560 - Resolving genomic structures inMECP2Duplication Syndrome provides insight into genotype-phenotype correlationsReviewer's Choice Award RecipientPresented by Davut Pehlivan, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

2157 -methometR: quantification of long-range haplotype specific methylation levels from Optical Genome MapsPresented by Surajit Bhattacharya, Center for Genetic Medicine Research, Childrens Research Institute, Childrens National Hospital, Washington, DC

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the timing and content of the presentations identified in this press release; the effectiveness and utility of Bionanos technology in basic genetic research and clinical settings; the contribution of Saphyr to uncovering novel genetic variants that contribute to cancer and genetic disease; the benefits of Bionanos optical mapping technology and its ability to facilitate genomic analysis in future studies; and Bionanos strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

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Prowess of Bionano Genomics' Saphyr System in Uncovering Novel Genetic Variations That Cause Cancer and Genetic Disease in Full Display at ASHG 2020 -...