StemCell Therapy

Cards representing AIDS victims are held aloft during a 1983 interdenominational service in New York's Central Park. Charles Ruppmann/NY Daily News via Getty Images hide caption

Cards representing AIDS victims are held aloft during a 1983 interdenominational service in New York's Central Park.

When Morning Edition first went on the air on Nov. 5, 1979, AIDS was an unknown acronym. And the ideas of a cloned mammal or a map of human DNA may as well have been science fiction.

But much has changed in the past four decades. During that time, spectacular advances across the scientific disciplines have had a major impact on the way we live today.

In 1981, Morning Edition aired a story about a strange set of cancers called Kaposi's sarcoma.

"In the last three months, 28 cases of Kaposi's sarcoma have been reported in this country, all occurring among gay men, most of them young," Laurie Garrett reported.

No one knew it at the time, but those cases were the first indication of the AIDS epidemic that was to come. And that story was the first mention of the disease on NPR.

At first, AIDS was largely viewed as a disease of gay people. But it was never only that, a fact that hit home to many people in 1991 when basketball star Earvin "Magic" Johnson who was married and heterosexual announced to the world that he was infected with HIV, the virus that causes AIDS.

When he made the announcement, Johnson also said he planned to live a long time, despite having the virus.

Many people were skeptical. HIV infection was frequently a death sentence in the early days of the epidemic.

But medical researchers had already found a few drugs that were helpful at keeping AIDS at bay, and now there are a bevy of options for treating HIV infection and AIDS. These days, HIV infection is typically a manageable disease and Johnson is still alive.

AIDS is just one of the diseases scientists have made progress controlling during the Morning Edition era. Now, parents can prevent many genetic diseases before a pregnancy is even begun. Genetic testing can ensure that only embryos not carrying a disease gene the cystic fibrosis gene, for example are implanted via IVF.

Almost all advances in genetic medicine rely heavily on a project to map and sequence all of the DNA in a human body.

But in 1986 when the idea was first proposed, many people, including many scientists, scoffed. Sequencing all 3 billion DNA base pairs in our 23 pairs of chromosomes was thought too Herculean a task.

A visitor views a digital representation of the human genome at the American Museum of Natural History in New York. Mario Tama/Getty Images hide caption

A few years later, the Human Genome Project was officially started, and in 2000, President Bill Clinton made this announcement at the White House:

"We are here to celebrate the completion of the first survey of the entire human genome. Without a doubt, this is the most important, most wondrous map ever produced by humankind."

Climate change is another topic that has been in the news for as long as Morning Edition has been on the air. As early as 1982, the show was reporting on scientists' concerns about what was then known as the greenhouse effect.

A researcher submerges his arm in melted Arctic ice in Barrow, Alaska. David L. Ryan/Boston Globe via Getty Images hide caption

"In the past year, scientists have presented evidence that the polar ice caps are slowly melting," Lili Francklyn reported in a story from that year. "And some researchers feel that we'll see climate changes within the next decade."

For a while, climate change seemed to be a nonpartisan issue. In 2008, Republican Newt Gingrich and Democrat Nancy Pelosi recorded a TV commercial together in which they say they "do agree our country must take action to address climate change."

But by 2017, that consensus had almost totally broken down. President Trump, who once famously called climate change a "hoax," announced that the United States would withdraw from the Paris Agreement that committed countries to taking steps to slow the rise of global temperatures. The U.S. formally requested withdrawal earlier this week.

Before the introduction of the personal computer, mainframe computers were the norm. The IBM System/370 mainframe computer, introduced in 1970, was one of the first computers to include "virtual memory" technology. Getty Images hide caption

Of all the transformative scientific advances in the past 40 years, perhaps the one that has affected the most lives is the rise of the Internet. Developed initially with support from the U.S. Department of Defense and then the National Science Foundation for national security and scientific research, the Internet now connects the world as never before.

When Morning Edition first went on the air, few people, if any, would have imagined that companies like Google, Facebook and Amazon would come to be part of the S&P 500. At the time, computers were mainly used by enthusiasts, scientists and engineers.

An announcement in 1981 from an industry executive signaled that computers were going mainstream.

"Well, today I'm pleased to tell you that we're introducing the IBM personal computer. It's a landmark announcement for our division and our company and we believe it will set a new standard for the industry," said George Conrades of IBM.

That people would carry small devices in their pockets capable of connecting them to the world would also have been unthinkable. Yet today more than 2 billion people own smartphones, and the number is growing rapidly around the world.

Indeed, when Morning Edition went on the air in 1979, you had to live near a broadcast tower in the United States in order to hear the program. Now you can tune in from a cafe in Kathmandu or a bar in Barcelona, and for that, you can thank the Internet.

See the rest here:
How Science And Technology Have Changed During 'Morning Edition' - NPR

Professor Glenn Cohen is a Professor of Law at Harvard Law School. He is also the director of Harvard Law School's Petrie-Flom Center for Health Law Policy, Biotechnology, and Bioethics, and one of the world's leading experts on the intersections of bioethics and the law. Cohen's current projects relate to big data, health information technologies, reproduction/ reproductive technology, research ethics, organ rationing in law and medicine, health policy, FDA law, translation medicine, and medical tourism. The utilization of CRISPR technology as a gene editing tool has spurred significant debate across the globe. In this interview, we gain insight of Cohen's perspectives on the "CRISPR revolution" and learn about the basic ethical issues surrounding the manipulation of the genome for enhancement.

Molly Campbell (MC): You are one of the leading experts on the intersection of bioethics and the law. Please can you tell us more about this field and the types of cases it addresses?Glenn Cohen (GC): Wherever law, medicine, and ethics intersect, thats where the field and I are. Whether it is the ethics of research, reproductive technologies, genetics, end of life decision-making, mental health, neuroscience, rationing, AI, clinical practice, etc. It is a robust and very exciting field.

MC: Currently, what restrictions apply to the use of CRISPR technology in different cell types and organisms? What applications are scientists not allowed to use CRISPR or other gene-editing technologies for? GC: In lay terms, in the United States an appropriations rider prohibits FDA from considering the use of germline gene editing in human beings. Thus, it is not possible to do a clinical trial or the like of this. Many (perhaps all, it is not clear everywhere) other countries across the world also prohibit in one way or another, but not all regulatory regimes may be as effective.

MC: The work of Jiankui He arguably startled the scientific community. In your opinion, do you think the publication of He's work prompted authorities to address regulating CRISPR technology? Or was there already a conversation taking place?GC: There was very robust conversation long before Dr. Hes terrible (and in my view completely unethical) experiments. For example, this report from the National Academies. While CRISPR is relatively new in terms of technology, in fact bioethicists have been talking about the basic issues surrounding manipulating the genome for enhancement for at least 40 years if not longer.

MC: There are concerns that the CRISPR tool could be used for enhancement purposes. In recent opinion article you say, "Anyone who has a position on enhancement has not thought deeply enough on the question." Please can you expand on what you mean by this?

GC: My claim is that enhancement is not a single monolithic thing, so it is hard to have a single position on it. Some enhancements would be wonderful and perhaps the state should subsidize them. Others would be terrible and perhaps the state should prohibit. Only when we think about it with some specificity can we know what we think the answer should be. In the article you mention I draw the following distinctions, for example, though others are possible:

1. Biological vs. Non-Biological Enhancement

a. Genetic enhancements vs. non-genetic biological enhancements

2. Choosing for Ourselves vs. Choosing for Others Who Cannot Choose for Themselvesa. Enhancing after birth vs. enhancing before birthi. Enhancing by selection vs. enhancing by manipulation of already fertilized embryos or implanted fetuses

3. Enhancements Compatible with Expanding Life Plans vs. Enhancements That Will Limit Options

4. Reversible vs. Irreversible Enhancement

5. Some would distinguish enhancement from treatment (though others are skeptical about this distinction)a. Enhancements to the upper bounds of what people already have vs. enhancements that add beyond human nature as it now stands

6. Enhancements for Absolute vs. Positional Goods

MC: A novel community of gene-editing "biohackers" has emerged in the rise of CRISPR technology. What are your opinions of biohackers conducting gene-editing experiments from their homes, from a legal and ethical perspective?GC:I think the community is very interesting. I am a huge fan of open science and the building of intellectual communities. I think the key question is whether/when the work undertaken by this community could pose significant externalities for others. Thats probably where I would start to get concerned.

MC: How do we approach implementing a global legal and ethical framework for using gene-editing technologies? What progress has been made thus far?GC: The WHO has chartered an advisory committee which has recommended a registry of all those doing gene editing work and has advised that it is irresponsible at this time for anyone to proceed with clinical applications of human germline genome editing." I think the existence of this committee (alongside the NASEM, Nuffield Council) and others working on these issues is a great step.

My own view is that we ought to be looking for a responsible translational pathway that might allow some clinical work to be reviewed and approved by regulators like the FDA in the future, but certainly there is nothing there yet. The international aspect makes this very, very difficult. Some have suggested we ought to go for an international treaty, like what we have on landmines and chemical weapons but also recognition of adoption, while others think this is infeasible.

MC: What challenges exist when looking to create laws surrounding a novel scientific technology?GC: There are quite a few. The first is uncertainty whenever you move to first-in-humans, whatever pre-clinical work you have done, there is always open questions. The same was true with IVF. The second is the politicization of science and the reduction of difficult and nuanced questions to talking points. The third is deep philosophical disagreement on some key points (for example, some take quite literally the idea of "man created in Gods image" and view altering the human genome as a rejection of that. If thats what someone believes for religious reasons then it is very hard to talk about these issues at a more policy level). Fourth, is the importance but difficult of public engagement. The UK in its public consultation on mitochondrial replacement therapy (that ultimately paved the way for permitting that technology to be used in a limited way) was a very good recent model, but quite difficult and expensive. Moreover, some felt it didnt go far enough in the direction of deliberative democracy. The hope is we will see more such initiatives for gene editing and other novel technologies.

Professor Glenn Cohen, Haravard Law School, was speaking with Molly Campbell, Science Writer, Technology Networks.

Catch up on the previous instalment of Technolology Networks Explores the CRISPR Revolution, an interview with Professor George Church, here.

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Technology Networks Explores the CRISPR Revolution: An Interview With Professor Glenn Cohen, World-leading Expert on Bioethics - Technology Networks

The University of Vermont Health Network has begun a pilot project to offer Genomic DNA Testing to patients as part of their clinical care. The pilot program is the beginning of an effort to increase the integration of genetic disease risks into routine medical care, which holds promise for providing Vermonters with valuable information to guide their health decisions.

"Our overall health and longevity are determined about 30 percent by genetics," said Debra Leonard, MD, PhD, Chair, Pathology and Laboratory Medicine. "But until now, most of our clinical health care decisions have been made without understanding the differences in each individual's DNA that could help guide those decisions."

Patients who choose to get the Genomic DNA Test can learn about differences in their DNA that make certain diseases more likely, such as cancer and heart disease. Knowing these genetically-determined disease risks may help patients and health care providers adjust their care to keep people as healthy as possible. While genetic testing to identify the cause of a patient's symptoms to reach a diagnosis is now common in health care, proactive genomic testing to identify health risks across a population is just beginning to be considered, and most projects are being done only in the research setting.

The UVM Health Network is partnering with Invitae and LunaPBC on the pilot project. Invitae will provide information for 147 genes that are well-established indicators of increased risk for certain diseases for which clinical treatment guidelines are established. The test also screens for carrier status for other diseases. Follow-up testing for family members will be provided when appropriate.

"Nearly 1 in 6 healthy individuals exhibits a genetic variant for which instituting or altering medical management is warranted," said Robert Nussbaum, MD, Chief Medical Officer of Invitae. "Genetic screening like the Genomic DNA Test in a population health setting can help identify these risk factors so clinicians can better align disease management and prevention strategies for each patient."

The UVM Health Network is offering the Genomic DNA Test as part of clinical care, but health and genomic data can also help researchers learn more about health and disease. Patients who get the test can consent to securely share their data with researchers through LunaDNA, partner LunaPBC's sharing platform. LunaDNA provides patients with the opportunity to share their genomic and electronic health record information to advance health and disease management research. In the future, patients will also be able to share lifestyle, environment, and nutrition data.Shared data is de-identified and aggregatedduring studiesto protect the privacy of each patient while being used to answer important medical research questions.

"Vermonters who choose to share their genomic data for research will play a leading role in the advancement of precision medicine," said Dawn Barry, LunaPBC President and Co-founder. "This effort puts patients first to create a virtuous cycle for research that doesn't sacrifice patients' control or privacy.We are proud to bring our values as a public benefit corporation and community-owned platform to this partnership."

Dr. Leonard spoke about the project, the UVM Health Network's partnership with LunaPBC and Invitae, and the role of genomics in population health on Monday at the Santa Fe Foundation's Clinical Lab 2.0 Workshop in Chicago, a national conference at which pathologists and healthcare leaders from across the country share ways that pathology can be integral to improving population health.

"Vermont and other states are moving away from 'fee-for-service' health care and toward a system that emphasizes prevention, keeping people healthy and treating illness at its earliest stages," Dr. Leonard said. "Integrating genetic risks into clinical care will help patients and providers in their decision-making."

The pilot project began on Friday, November 1, when the first patient agreed to have the test. During the pilot stage of the project over the next year, the Genomic DNA Test will be offered to approximately 1,000 patients over the next year who: are at least 18 years old; receive their primary care from a participating UVM Health Network Family Medicine provider; are not currently pregnant or the partner of someone who is currently pregnant; and are part of the OneCare Vermont Accountable Care Organization (ACO), a care coordination and quality improvement organization.

Patients do not have to pay for the test or for discussions with the UVM Health Network's Genomic Medicine Resource Center's genetic counselors before and after testing. The test uses a small amount of blood, and focuses on the parts of a patient's DNA that most affect health and health care. Results will go into each patient's medical record, protected like all medical information, and available to the patient and all of their health care providers.

"Much work has gone into getting ready to start this project and it has taken an entire team," Dr. Leonard said. "Providers from Family Medicine, Cardiology, the Familial Cancer Program, Medical Genetics and Pathology, patient and family advisors, ethics and regulatory compliance leaders, Planning, Finance and OneCare Vermont have all worked together to get us across the start line for this initiative."

Patients should be aware that the UVM Health Network will never call them on the phone to ask them to get this test. Testing is arranged through a patient's primary health care provider and only if the patient agrees to have the test.

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Thanks for reading, friends. The author is long shares of Invitae at the time of this writing.

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The University of Vermont Initiates Genomic DNA Testing in Partnership With Genomics Leader Invitae (NYSE:NVTA) as Cigna Joins Invitae's Covered Lives...

These Five Life Science Organizations are Striving to Cure HIV

For those that lived through the devastation and horror of the HIV/AIDS epidemic of the early 1980s, effective treatment, let alone a cure for Human Immunodeficiency Virus (HIV), seemed unimaginable.

Some three decades later, a host of Maryland life science companies and research organizations are getting closer to making what was once unthinkable, real.

So little was known about this devastating immune disorder in the early phases of the HIV/AIDS epidemic.

In the early days of the HIV/AIDS crisis, the BioHealth Capital Region was the epicenter of HIV/AIDS research, with much of this groundbreaking research occurring within the lab of the now famed NIH researcher, Dr. Robert Gallo. In 1983 and 1984 Gallo and his collaborators co-discovered and confirmed that the virus responsible for the killer disease known as AIDS was human T lymphotropic virus type III (HTLV-III). Gallo and the company went on to develop the first test that identified the virus in humansthe HIV-antibody blood test.

By 1983 the disease had started to spread globally. By 1999, approximately 33 million people across the globe were living with HIV and an estimated 14,000,000 million people had died from AIDS since the epidemic began.

The 1995 approval of Highly Active Antiretroviral Treatment (HAART), which was the result of the remarkable, collaborative efforts of the scientific community, led to the reduction of AIDS-related deaths and hospitalizations by 60-80%. A short time later what was once a three-drug cocktail had been transformed into a pill taken once daily by HIV sufferers.

As of 2017, 19.5 million people are estimated to be receiving antiretroviral treatment globally. While one of the greatest achievements in medical history, HAART and subsequent treatment forms do not cure HIV. Within just weeks of stopping treatment, the virus returns to full strength and chronic inflammation caused by suppressed HIV can lead to adverse health effects over the long term. Current HIV treatments control it but do not cure it; in fact, research shows that those being treated for HIV are more susceptible to other diseases and health risks at an earlier age.

Despite the amazing advancements in HIV/AIDS treatments, HIV/AIDS continues to be a major global health threat.

It would be a fitting conclusion for an HIV cure to emerge from the state where the virus was first linked to AIDS and where the first human diagnostic was developed.

Multiple Maryland companies and research institutions are on the leading-age of HIV research and development, making the state a hotbed of potential next-generation HIV therapies and, possibly, the source of a cure for this devastating global health issue. Some of the most promising cure candidates are coming out of Marylands thriving cell and gene therapy cluster.

Lets take a look at some of the amazing progress thats happening right now across Maryland and take a deeper dive into five of the leading organizations that are on a mission to develop the first HIV cure.

AGT is a gene and cell therapy company with a proprietary gene-delivery platform to rapidly develop gene and cell therapies to cure infectious diseases, cancers and monogenic disorders.

One of its lead gene therapy products is a potential functional cure for HIV. AGT just announced that it has submitted the IND to the FDA for a Phase I trial of its autologous cell therapy for HIV.

While HIV has become a manageable chronic virus for many, in less developed countries HIV/AIDS is still a devastating illness. Developing an HIV cure would relieve millions from the side effects of antiretrovirals used to suppress HIV and prevent AIDS, avoid the serious quality-of-life issues of long-term treatment, and potentially save the lives of countless others.

AGT is currently developing a highly innovative HIV treatment strategy that uses the tools of genetic medicine for immunotherapy to potentially create a functional cure for HIV.

If we are successful, patients will be able to throw away their medication, will not progress to AIDS, and will be immune to future HIV exposures.

The potential single-dose treatment would be delivered as a genetically-modified cell product made from a patients own cells. AGTs strategy is unique because it focuses on the key immune cells responsible for catalyzing strong immunity against a virus. AGTs treatment strategy seeks to protect these cells; one of the first cell subsets to be disabled by HIV. This subset of cells is understood to be critical to building an immune response to any virus. If achieved, the cells natural process of immunity is restored and any future rise of HIV in the body will be attacked by an individuals own immune system.

AGTs treatment includes the production of an autologous cell product that is highly enriched for HIV-specific CD4+ T cells that are then transduced with a lentivirus vector known as AGT103 to protect against HIV-mediated T cell depletion. The combination of these enriched cells and the lentiviral vector forms a cell product AGT has dubbed AGT103-T. This cell product is delivered intravenously to HIV patients. AGT103-T should control viremia and work to remove infected cells from the body, thus eliminating the need for lifelong antiretroviral treatment.

AGT is currently collaborating with the Institute of Human Virology, University of Maryland Baltimore to collect leukapheresis specimens from HIV positive individuals for an ongoing observational study performing and qualifying the cell process, which is explained in greater detail here. The company expects its potential HIV cure to move into clinical trials in the next six months.

IHV is part of the University of Maryland School of Medicine and is a recognized leader in the virology field. IHV was founded by Dr. Robert C. Gallo who co-discovered HIV and developed the first HIV blood test.

IHV is heavily focused on HIV/AIDS research and the organization is currently progressing a promising HIV/AIDS vaccine through its pipeline. IHV01 (FLSC-001) has completed a Phase I trial and was supported, in part, from funding provided by the Bill and Melinda Gates Foundation.

This potential HIV/AIDS treatment seeks to neutralize the different strains of HIV found across the globe from the moment of infection. IHVs HIV/AIDS research is focused on the CCR5 chemokine receptor that plays a crucial role in HIV-1 infection and as such offers an important potential therapeutic target. (IHV Website). IHV is striving to develop biological HIV/AIDS treatments that are less expensive, have fewer adverse impacts and are more accessible to patients around the globe.

Lentigen is a leading provider of custom lentiviral vectors used in cell and gene therapy research and development. For HIV, Lentigen is at the forefront of efforts to use Chimeric Antigen Receptors (CAR) T-Cell therapy to improve the treatment of HIV and possibly cure it.

Lentigen, along with researchers at the University of Pittsburgh in Pennsylvania and the Albert Einstein School of Medicine, has been conducting a promising study of the use of CAR T in the treatment of HIV. The researchers developed duoCAR T cells that were able to kill white blood cells infected with a range of HIV variants. Testing in mice also produced promising results. Mice with humanized immune systems were simultaneously injected with CAR T cell and HIV-infected human cells into their spleens. When the spleens were examined a week later, five of the six mice had no identifiable HIV DNA and their viral levels had decreased by 97.5% (source: Science).

The study hopes to test the duoCAR T approach in HIV-infected people in the near future.

IBBR is a joint research enterprise of the University of Maryland, College Park and the National Institute of Standards and Technology (NIST). Last year IBBR received $3.9M from the National Institutes of Health (NIH) to develop a multi-specific, single-agent antibody therapeutic against HIV-1 to block virus infection and to clear the reservoir of HIV-infected cells from the body, according to an IBBR press release from November 2018.

The project is led by Dr. Yuxing Li, Associate Professor, Department of Microbiology and Immunology, University of Maryland School of Medicine, and Fellow at the Institute for Bioscience and Biotechnology Research (IBBR), in collaboration with Dr. Qingsheng Li, University of Nebraska-Lincoln, and Dr. Keith Reeves, Harvard Medical School/Beth Israel Deaconess Medical Center.

IBBRs research has focused on overcoming some of the limitations of existing antiretroviral (ARV) HIV treatments, including adverse side effects, ARV treatment drug resistance and how HIV integrates into the human genome, creating pockets of HIV that ARV cannot eliminate. Dr. Li and his group have produced bi and tri-specific antibodies that demonstrated neutralization of 95% of circulating HIV-1 viruses. These bi and tri-specific antibodies can also bind to multiple locations on the HIV-1 surface glycoprotein Env, which could potentially thwart treatment resistance via mutation. The team is now working to optimize their multivalent antibody constructs to recognize Env proteins on the surface of latently infected host cells, and to signal other immune system components to destroy those cells that contain the hard-to-reach viral pockets, or as the team calls them, a viral reservoir. (IBBR press release)

NIAID has been at the forefront of HIV research for decades and continues to be a major player in the research and development of possible HIV treatments and potential cures. NIAIDs research into HIV played a critical role in developing ARV drugs that transformed HIV into a chronic condition rather than a fatal infection.

NIAID-supported research has led to many ARV drug improvements, including reducing the number of pills required, diminishing adverse impacts and identifying the best drug combinations. The organization works with many leading global HIV/AIDS research organizations to identify and develop better HIV treatments.

NIAID is focused on both developing new HIV treatments as well as supporting other researchers and research organizations investigating new therapies. The ultimate goal is to potentially make HIV treatment a single dose, lifetime treatment, and, eventually, the complete eradication of HIV. NIAID is involved in many research and development projects focused on HIV and there are too many to dig into in a single article. Some of their current HIV research and development efforts are focused on investigational long-acting HIV drugs, rilpivirine LA and cabotegravir LA, for patients that have had difficulty following conventional antiretroviral therapy programs. Another NIAID study will test combining monthly injections of cabotegravir LA and infusions of an NIAID-discovered broadly neutralizing antibody called VRC01LS to see if the combination can keep HIV suppressed in people whose infection was previously controlled by antiretroviral therapy.

The organizations support has also helped in the discovery of the experimental drug islatravir (also known as EFdA or MK-8591) and maturation inhibitors. NIAID also has partnered with the Maryland industry, including a research collaboration agreement with AGT for research studies on the companys cell and gene therapy for HIV/AIDS.

A partnership between NIAID, Frederick National Labs for Cancer Research (operated by Leidos Biomedical Research, Inc.) and a team of collaborators recently developed 38 new simian/human immunodeficiency viruses (SHIVs) for prevention and treatment studies. These new SHIVs have closed a gap that previously existed in HIV research. These SHIVs are pathogens engineered in the lab that can help in the investigation of potential new HIV therapies as well as other treatments and vaccines.

These SHIVs target HIV subtype C, which causes approximately half of all HIV infections, and were created using HIV samples from people recently infected, allowing better modeling of more current forms of HIV subtype C circulating globally. The stronger modeling will increase pre-clinical researchs ability to predict effectiveness. Other SHIVs had used samples acquired from patients that had been infected long before the sample was pulled, limiting the SHIVs effectiveness against more current strains of HIV. While improvements are still needed, including challenges with replication, these new tools for HIV research and discovery hold tremendous promise.

In the late 1970s and early 1980s finding a cure for HIV/AIDS wasnt even on the radar. The scientific community was racing to understand the fundamentals of a virus that was rapidly spreading devastation and death across the globe. The speed with which the medical community came to understand the disease and to develop treatments like HAART is one of the truly amazing stories of the 20th century.

One or several of these Maryland companies and research institutions have a real chance to achieve what was once unthinkablefinding a cure for HIV that could help tens of millions of people across the globe live better, healthier and longer lives.

If an HIV cure emerges from Maryland, the BHCR community will have helped write the final chapter of HIV/AIDS terrible yet hopeful story.

Steve has over 20 years experience in copywriting, developing brand messaging and creating marketing strategies across a wide range of industries, including the biopharmaceutical, senior living, commercial real estate, IT and renewable energy sectors, among others. He is currently the Principal/Owner of StoryCore, a Frederick, Maryland-based content creation and execution consultancy focused on telling the unique stories of Maryland organizations.

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Heres Why the First Cure for HIV Could Emerge from Maryland - BioBuzz

GW also welcomes the positive guideline recommendation for Sativex (nabiximols) for the treatment of spasticity due to multiple sclerosis as part of NICEs evaluation of cannabis-based medicinal products (CBMPs)

Cannabidiol oral solution and nabiximols are the first and only plant-derived cannabis-based medicines to be routinely reimbursed on the NHS

LONDON and CARLSBAD, Calif., Nov. 11, 2019 (GLOBE NEWSWIRE) -- GW Pharmaceuticals plc (Nasdaq: GWPH) (GW, the Company or the Group), world leader in discovering, developing and commercialising cannabinoid prescription medicines, today announces that two of its medicines, EPIDYOLEX (cannabidiol) oral solution and Sativex (nabiximols), have been recommended by the UKs National Institute for Health and Care Excellence (NICE) to receive routine reimbursement from NHS England.

This represents the first-time any plant-derived cannabis-based medicine has been recommended by NICE for use on the NHS. Cannabidiol oral solution is recommended as an adjunctive therapy for seizures associated with Lennox Gastaut syndrome (LGS) or Dravet syndrome, in conjunction with clobazam, for patients two years of age and older. Nabiximols, reviewed as part of NICEs evaluation of cannabis-based medicinal products (CBMPs), has been considered cost effective for the treatment of spasticity due to multiple sclerosis.

This is a momentous occasion for UK patients and families who have waited for so many years for rigorously tested, evidenced and regulatory approved cannabis-based medicines to be reimbursed by the NHS, said Chris Tovey, GWs Chief Operating Officer. This is proof that cannabis-based medicines can successfully go through extensive randomised placebo-controlled trials and a rigorous NICE evaluation process to reach patients. I am hugely proud of the entire GW team for achieving this milestone in the country where the company was founded and where both of these medicines were developed and are manufactured.

Commenting on the NICE recommendation for cannabidiol oral solution, Dr Rhys Thomas, Consultant Neurologist at the Royal Victoria Hospital in Newcastle, said: This is a significant moment for adults and children with the most difficult to treat epilepsies. NICEs recommendation of cannabidiol oral solution follows a period of great anticipation and enthusiasm for patients and their clinicians. The European Medicines Agency (EMA) licence and availability through the NHS is welcome as we badly need additional effective treatments for Dravet and Lennox Gastaut syndromes.

We welcome the addition of cannabidiol oral solution as a new medicine to add to the Dravet syndrome treatment armamentarium. Dravet syndrome is a devastating condition and having a new treatment option offers potential new hope to patients and their families searching for better seizure control, said Galia Wilson, Chair, Dravet Syndrome UK. Many families come to us asking about the potential of cannabis-based medicines, particularly cannabidiol (CBD), and we are thrilled that one is now available on the NHS.

When added to other anti-epileptic therapies, GWs cannabidiol oral solution significantly reduced the frequency of seizures in patients with LGS and Dravet syndrome.The most common adverse reactions that occurred in patients treated with the medicine were somnolence, decreased appetite, diarrhoea, pyrexia, fatigue and vomiting.GWs development programme represents the only well-controlled clinical evaluation of a cannabinoid medication for patients with refractory epilepsy.

GWs cannabidiol oral solution was approved by the EMA and received marketing authorisation in September 2019 under the trade name EPIDYOLEX as an adjunctive therapy for seizures associated with LGS or Dravet syndrome, in conjunction with clobazam, for patients two years of age and older. Following this approval, GW has been working with the relevant bodies in the UK, Germany, Spain, France and Italy to secure reimbursement ahead of the anticipated launch of the medicine in these countries.

The inclusion of nabiximols in NICE guidelines comes as part of the comprehensive evaluation of the clinical and cost-effectiveness of CBMPs. Nabiximols has been approved by medicines regulators in more than 25 countries around the world. Nabiximols was approved in the UK by the Medicines and Healthcare products Regulatory Agency (MHRA) in 2010 and is marketed in the UK by GWs commercial partner, Bayer.

About GW Pharmaceuticals plc and Greenwich Biosciences, Inc.Founded in 1998, GW is a biopharmaceutical company focused on discovering, developing and commercialising novel therapeutics from its proprietary cannabinoid product platform in a broad range of disease areas. GWs lead product, EPIDIOLEX (cannabidiol oral solution) is commercialised in the US by its U.S. subsidiary Greenwich Biosciences for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) or Dravet syndrome in patients two years of age or older. This product has received approval in Europe under the tradename EPIDYOLEX. The Company continues to evaluate EPIDIOLEX in additional rare conditions including Tuberous Sclerosis Complex (TSC) and Rett syndrome. GW commercialised the worlds first plant-derived cannabinoid prescription medicine, Sativex (nabiximols), which is approved for the treatment of spasticity due to multiple sclerosis in numerous countries outside the United States and for which the Company is now advancing a late stage programme in order to seek FDA approval. The Company has a deep pipeline of additional cannabinoid product candidates which includes compounds in Phase 1 and 2 trials for epilepsy, autism, glioblastoma, and schizophrenia. For further information, please visit http://www.gwpharm.com.

About EPIDIOLEX/EPIDYOLEX (cannabidiol) oral solutionEPIDIOLEX/EPIDYOLEX (cannabidiol), the first prescription, plant-derived cannabis-based medicine approved by the FDA for use in the U.S., is an oral solution which contains highly purified cannabidiol (CBD). The medicine is for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) or Dravet syndrome in patients two years of age or older and is the first in a new class of anti-epileptic medications with a novel mechanism of action. EPIDYOLEX received a positive opinion from the European Medicines Agencys (EMA) Committee for Medicinal Products for Human Use (CHMP) in July 2019 and the European Commission (EC) granted the marketing authorisation on 23 September 2019 for adjunctive use in conjunction with clobazam. The medicine was granted an Orphan Drug Designation from the EMA for the treatment of seizures associated with LGS, Dravet syndrome, and Tuberous Sclerosis Complex (TSC).

About Sativex (nabiximols)Sativex (nabiximols), the first cannabinoid medicine derived from the cannabis plant, is an oromucosal spray which contains a complex mixture of cannabinoids, including delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) and specific minor cannabinoids and other non-cannabinoid components. Nabiximols is approved in over 25 countries around the world for the treatment of spasticity due to multiple sclerosis (MS) in people who have not responded adequately to other anti-spasticity medication and who demonstrate clinically significant improvement in spasticity related symptoms during an initial trial of therapy. Nabiximols is currently licensed to Almirall in Europe (excluding the UK), to Bayer in the UK and Canada, Neopharm in Israel, IDS Medical in UAE, Al-Mojil in Kuwait, Ipsen in Latin America (excluding Mexico and Islands of Caribbean), and Emerge Healthcare in New Zealand and Australia.

About Dravet syndrome Dravet syndrome is a severe infantile-onset and highly treatment-resistant epileptic encephalopathy frequently associated with genetic mutations in the sodium channel gene SCN1A. Onset of Dravet syndrome typically occurs during the first year of life in previously healthy and developmentally normal infants. Initial seizures are often body temperature related, severe, and long-lasting. Over time, patients with Dravet syndrome often develop multiple types of seizures, including tonic-clonic, myoclonic and atypical absences and are prone to bouts of prolonged seizures including status epilepticus, which can be life threatening. Risk of premature death including SUDEP (sudden unexpected death in epilepsy) is elevated in patients with Dravet syndrome. Additionally, the majority of patients will develop moderate to severe intellectual and development disabilities and require lifelong supervision and care.

About Lennox-Gastaut syndrome (LGS) The onset of LGS typically occurs between the ages of 3 to 5 years and can be caused by a number of conditions, including brain malformations, severe head injuries, central nervous system infections and genetic neuro-degenerative or metabolic conditions. In up to 30 percent of patients, no cause can be found. Patients with LGS commonly have multiple seizure types including drop and convulsive seizures, which frequently lead to falls and injuries, and non-convulsive seizures. Resistance to anti-epileptic drugs (AEDs) is common in patients with LGS. Most patients with LGS experience some degree of intellectual impairment, as well as developmental delays and aberrant behaviours.

About Multiple Sclerosis (MS)Multiple sclerosis (MS) is a chronic neurological condition characterized by progressive and disabling loss of motor and sensory nervous system functions. In Europe, the prevalence rate of MS is estimated to be 83 per 100,000 and is most commonly diagnosed between the ages of 20 and 40, although it can affect younger and older people too. In the UK, it affects around 100,000 people. Spasticity related to MS is an involuntary increase in muscle tone affecting more than 80% of MS patients across their disease evolution, and being moderate or severe in one third of them despite physiotherapy and first line drug treatments. The burden of spasticity grows as the MS evolves. When the muscle is moved externally, there is more resistance to this movement than there normally would be and the muscle feels stiff or rigid. Increased muscle tone also means that muscles are slow to relax, and this causes stiffness. Spasticity, beyond the continuous stiffness, may also cause muscles to jerk suddenly in an uncontrolled way.

Forward-looking statementsThis news release contains forward-looking statements that reflect GW's current expectations regarding future events, including statements regarding financial performance, the timing of clinical trials, the timing and outcomes of regulatory or intellectual property decisions, the relevance of GW products commercially available and in development, the clinical benefits of EPIDIOLEX/EPIDYOLEX (cannabidiol) oral solution and Sativex (nabiximols), and the safety profile and commercial potential of both medicines. Forward-looking statements involve risks and uncertainties. Actual events could differ materially from those projected herein and depend on a number of factors, including (inter alia), the success of GWs research strategies, the applicability of the discoveries made therein, the successful and timely completion and uncertainties related to the regulatory process, and the acceptance of EPIDIOLEX/EPIDYOLEX, Sativex and other products by consumer and medical professionals. A further list and description of risks and uncertainties associated with an investment in GW can be found in GWs filings with the U.S. Securities and Exchange Commission. Existing and prospective investors are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. GW undertakes no obligation to update or revise the information contained in this press release, whether as a result of new information, future events or circumstances or otherwise.

Read more:
GW Pharmaceuticals receives positive NICE recommendation for EPIDYOLEX (cannabidiol) oral solution for the treatment of seizures in patients with two...

CAMBRIDGE, Mass., Nov. 05, 2019 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that senior management will present at the Credit Suisse 28th Annual Healthcare Conference on Tuesday, Nov. 12, 2019 at 11:10 a.m. E.T. / 9:10 a.m. M.T. The fireside chat will be held at the at The Phoenician in Scottsdale, Ariz.

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 TherapeuticsSarepta is at the forefront of precision genetic medicine, having built an impressive and competitive position in Duchenne muscular dystrophy (DMD) and more recently in gene therapies for Limb-girdle muscular dystrophy diseases (LGMD), MPS IIIA, Pompe and other CNS-related disorders, totaling over 20 therapies in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. Sarepta is fueled by an audacious but important mission: to profoundly improve and extend the lives of patients with rare genetic-based diseases. For more information, please visit http://www.sarepta.com.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For 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, 617-274-4052iestepan@sarepta.com

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

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Sarepta Therapeutics to Present at the Credit Suisse 28th Annual Healthcare Conference - GlobeNewswire

BOTHELL Nov 11, 2019 (Thomson StreetEvents) -- Edited Transcript of Sarepta Therapeutics Inc earnings conference call or presentation Thursday, November 7, 2019 at 9:30:00pm GMT

* Alexander G. Cumbo

Sarepta Therapeutics, Inc. - Executive VP & Chief Commercial Officer

* Douglas S. Ingram

Sarepta Therapeutics, Inc. - President, CEO & Director

Sarepta Therapeutics, Inc. - Executive VP of R&D and Chief Medical Officer

* Ian M. Estepan

Sarepta Therapeutics, Inc. - Senior VP of Corporate Affairs & Chief of Staff

Sarepta Therapeutics, Inc. - SVP of Gene Therapy

Sarepta Therapeutics, Inc. - Executive VP, CFO & Chief Business Officer

Robert W. Baird & Co. Incorporated, Research Division - Senior Research Analyst

* Christopher N. Marai

Nomura Securities Co. Ltd., Research Division - MD & Senior Analyst of Biotechnology

* Debjit D. Chattopadhyay

H.C. Wainwright & Co, LLC, Research Division - MD of Equity Research & Senior Healthcare Analyst

BTIG, LLC, Research Division - MD and Specialty Pharmaceutical & Biotechnology Research Analyst

Janney Montgomery Scott LLC, Research Division - Equity Research Analyst & Director of Biotechnology Research

Good day, ladies and gentlemen, and welcome to the Sarepta Therapeutics Third Quarter 2019 Earnings Call. (Operator Instructions) As a reminder, today's call is being recorded.

And now I'd like to introduce your host for today's program, Ian Estepan, Senior Vice President, Chief of Staff and Corporate Affairs.

Ian M. Estepan, Sarepta Therapeutics, Inc. - Senior VP of Corporate Affairs & Chief of Staff [2]

Thank you, Michelle, and thank you all for joining today's call. Earlier today, we released our financial results for the third quarter of 2019. The press release is available on our website at http://www.sarepta.com, and our 10-Q was filed with the SEC earlier this afternoon. Joining us on the call today are Doug Ingram, Sandy Mahatme; Bo Cumbo, Dr. Gilmore O'Neill; and Dr. Rodino-Klapac. After our formal remarks, we'll open up the call for questions.

I'd like to note that during this call, we'll be making a number of forward-looking statements. Please take a moment to review our slide on the webcast which contains our forward-looking statements. These forward-looking statements involve risks and uncertainties, many of which are beyond Sarepta's control. Actual results could materially differ from these forward-looking statements, and any such risks can materially and adversely affect the business, the results of operations and the trading prices of Sarepta's common stock.

For a detailed description of applicable risks and uncertainties, we encourage you to review the company's most recent quarterly report on Form 10-Q filed with the Securities and Exchange Commission as well as the company's other SEC filings. The company does not undertake any obligation to publicly update its forward-looking statements, including any financial projections provided today, based on subsequent events or circumstances.

And with that, let me turn the call over to our CEO, Doug Ingram, who will provide an overview on our recent progress. Doug?

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Douglas S. Ingram, Sarepta Therapeutics, Inc. - President, CEO & Director [3]

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Thank you, Ian. Good afternoon and evening, and thank you all for joining us for Sarepta Therapeutics Third Quarter 2019 Conference Call.

Our ambitious strategy involving one of the deepest multi-platform genetic medicine pipelines in biotech has required focused execution over the course of 2019. To remind you, we have more than 25 active programs across our RNA and gene therapy platforms, and we're either actively in or in late-stage planning for some 9 human clinical trials to advance our plans. I am pleased to say that over the course of 2019 and in the third quarter specifically, we have made very significant strides in advancing our programs and our strategic vision, and I'm excited to discuss those advancements. However, while doing so, I must also acknowledge what we all know that we had a setback in the third quarter. And rather than burying it among or after a discussion of our successes, I will begin by commenting on our CRL disappointment that occurred in August.

Having worked diligently on our submission for VYONDYS 53, the generic name of that is golodirsen, for well over a year and based on all of our interactions with the Division of Neurology Products, we were very confident that we would obtain an approval on our PDUFA date, which was August 19. Instead, as you know, we were surprised to have received a complete response letter, also known as a CRL, signed by the Office of Drug Evaluation I. Our disappointment extends beyond Sarepta to the 8% of exon 53 amenable DMD patients in the United States who degenerate every day while they await access to this therapy.

When I joined Sarepta, I made some commitments externally and to the Division of Neurology, that we intended to build a positive relationship with the Division of Neurology, one founded on transparency and on solid evidence-based science. And consistent with that commitment, we will work with the agency to address the reasons for the CRL and determine a pathway for a potential approval if one is possible.

I've heard from those who would prefer that I speak more often and more publicly on this issue and/or that I would attempt to engage the patient community or others to assist, for instance, in applying external pressure to bring this therapy along faster. I have no intention of doing either of those things. If we can win the day with this therapy and with this issue, we will have done so on the science and on the regulations and in collaborative evidence-based discussions with our reviewers at the FDA.

Now I've also heard some speculation about the implications of the CRL. So let me take a moment to address these as well. First, the VYONDYS CRL does have implications for our submission for our next PMO, casimersen. As they are closely related, we will await clarity on the VYONDYS matter before we submit for casimersen in the United States. But let me disabuse anyone who might have concerns for our other programs. The CRL does not have any read-through to our micro-dystrophin gene therapy program. The CRL involved 2 safety signals in connection with an application for an accelerated approval. Our micro-dystrophin program is overseen by a different part of the FDA, CBER, and we are not seeking accelerated approval there. There is simply no overlap in either substance or personnel.

Secondly, to those who may believe that the CRL suggests some sort of bias on behalf of the Division of Neurology towards Sarepta, I would unequivocally and emphatically disagree. Let me reiterate that I remain convinced that we were treated very fairly and professionally by the Division of Neurology. Also, I'm very proud of the Sarepta team and how they comported themselves during this review. From my perspective, we have gone a long way in the last 2.5 years in forging a positive evidence-based working relationship with the division. We will work diligently to address the VYONDYS CRL. But with that, I do not intend to provide a prediction on outcome or on timing or to provide interim views during the process. However, I will provide an update to the patient, physician and investment communities once we have definitive clarity on the outcome of those discussions.

Now moving to our positive achievements in the quarter. We have made some enormous amount of progress in this third quarter. EXONDYS continues to perform well with third quarter sales above consensus at $99 million. That is a 26% increase over same quarter last year. Commenting for a moment on our confirmatory trial for EXONDYS, to remind you, this trial comprises 3 arms: one with EXONDYS at 100 mg per kg and another at 200 mg per kg versus our current dose at 30 mg per kg. The trial design, which was an FDA requirement, will answer whether higher doses of EXONDYS provide even more benefit than the currently approved dose. Now since the comparator arms involve higher doses than the currently approved dose, we were required to begin our confirmatory trial with a healthy human volunteer study. We have completed this trial, and based on the results, we have initiated the main confirmatory trial. We will begin dosing this quarter.

Staying on our RNA franchise. We have moved to our multi-ascending dose trial for our next-generation RNA platform, the PPMO, and we are dosing trial participants now. We will have safety and dosing insight in 2020. If our PPMO shows encouraging results, in addition to SRP-5051, that's the construct that we're currently in a multi-ascending dose regarding, we have 5 additional constructs that have already been built, which in total have the potential to treat as much as 43% of the DMD community. We are also conducting research now on new therapeutic targets that could be served by our PPMO platform.

Moving next to our gene therapy platform. As you know, we are spending enormous resource and energy to build out our vision of an enduring gene therapy engine. Between our research and clinical-stage programs, we have more than 14 therapeutic candidates advancing through research and development. We have made great progress thus far this year and quarter, led by our most advanced program, SRP-9001, for DMD, which, at least to my knowledge, is the highest-potential late-stage gene therapy program currently in biotech. As you should be aware, our double-blind, placebo-controlled SRP-9001 micro-dystrophin trial, the trial that we call Study 2, was fully dosed by midyear, but we took advantage of the availability of additional study material and previously announced that we had increased the study n from 24 patients to 40 patients, significantly increasing the study power and confidence in this study. In addition to our initial site with Dr. Jerry Mendell at Nationwide Children's Hospital, we have added a second site at UCLA with Dr. Perry Shieh. And I'm very proud to be associated with that clinician and investigator. Both sites are actively dosing patients, and we remain on target to complete our dosing by year-end.

Micro-dystrophin manufacturing is progressing well. From a capacity perspective, Brammer has now completed the buildout of our single-use micro-dystrophin manufacturing facility in Lexington, Massachusetts. We also have dedicated suites with Paragon in Maryland with actually substantially greater capacity than our dedicated Lexington facility, which means we have robustly secured capacity well in advance of launch.

Our analytical development work proceeds well, and we continue to make progress on process development and yield optimization. Given our recent capacity, analytical development and process development progress, we remain on track to commence our next trial, Study 301, with commercial development supply by mid-2020. Now Study 2 is being conducted with clinical material from Nationwide Children's Hospital. Study 301 will be a multicenter, multi-country, placebo-controlled trial using commercial process material from our hybrid manufacturing model with Brammer and Paragon. The main study will include DMD patients ages 4 to 7, but we are also planning a separate study for older and non-ambulatory patients as well.

Commenting on a few of our other gene therapy programs. Following exceptional expression and biomarker results in our first 3-patient cohort dosed with our construct for limb-girdle 2E, in October, we announced positive 9-month functional results in that same cohort. Consistent with robust expression of the native beta-sarcoglycan protein, that is the cause of the disease, all patients improved on every functional endpoint by the 9-month time point. Consistent with the protocol, we will treat an additional 3-patient cohort with a higher dose, and then in early 2020, we will decide on the dose for what we hope to be the pivotal trial. These results will help inform dosing not only of our 2E program but also on the other limb-girdle programs in our pipeline. We will also meet with the FDA in the near term to discuss the development pathway for our limb-girdle programs. And informed by this and further work on manufacturing, we will provide an update on the clinical pathway and the timing for our limb-girdle portfolio in 2020.

Next, led by our partner Lysogene, the AAVance gene therapy study for MPS IIIA, also known as Sanfilippo Syndrome Type A, is proceeding well with 13 patients having been dosed to date. MPS IIIA is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and the spinal cord, causing severe cognitive decline, motor disease, behavioral decline and unfortunately death at a young age. AAVance is a single-arm trial evaluating the safety and efficacy of an rh10-mediated gene therapy to deliver the missing SGSH gene with the goal of robustly expressing the missing enzyme in the brain that is the cause of MPS IIIA.

Moving to Charcot-Marie-Tooth, or CMT. Dr. Zarife Sahenk of Nationwide Children's Hospital intends to commence dosing of the proof-of-concept study for CMT 1A subject only to obtaining final release of trial material for that study. CMT is the largest inherited neuromuscular disease in the world. And CMT 1A, a devastating peripheral nerve disease, is also the most prevalent form of CMT. Dr. Sahenk's gene therapy is an AAV 1-mediated construct to deliver the neurotrophic factor-3, NT-3. In animal models, NT-3 has been shown to promote nerve regeneration, improved motor function, histopathology and electrophysiology of peripheral nerves. And in early proof-of-principle studies, NT-3 has shown markers of clinical benefits in patients with CMT 1A when administered subcutaneously.

In summary, we have made great progress in the third quarter and over the course of 2019 toward our ambitions, advancing our RNA and gene therapy platforms, advancing our many development programs, building out our gene therapy manufacturing capacity and building out our tower. As with any ambitious strategy, our progress this quarter was met with an obstacle in the form of the VYONDYS CRL. The breadth of our ambition inevitably comes with challenges and obstacles to address and to overcome. But to those who might at times feel discouraged or disheartened by the need to overcome the occasional barrier, we should keep top of mind what we are doing with all of this. If we are successful in our mission, we will not merely be among the most significant gene therapy and genetic medicine biotechnology companies in existence, but we will have, more importantly, extended, improved and saved the lives of countless patients who would otherwise have been left hopeless.

And with that, I will turn the call over to Sandy to provide an update on the financials. Sandy?

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Sandesh Mahatme, Sarepta Therapeutics, Inc. - Executive VP, CFO & Chief Business Officer [4]

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Thanks, Doug. Good afternoon, everyone. Let me start by saying that we had another strong quarter both in terms of financial performance and in progress towards the pipeline and manufacturing capabilities. With a current top line run-rate of approximately $400 million and a cash balance over $1 billion, we are in a strong position to continue to accelerate our strategic imperatives and invest in the growth of Sarepta. Net product revenue for the third quarter of 2019 was $99 million compared to $78.5 million for the same period of 2018. The increase primarily reflects higher demand for EXONDYS 51.

On a GAAP basis, the company reported a net loss of $126.3 million and $76.4 million or approximately $1.70 and $1.15 per share for the third quarter of 2019 and 2018, respectively. We reported a non-GAAP net loss of $84.4 million or $1.14 per share compared to non-GAAP net loss of $37.1 million or $0.56 per share in the third quarter of 2018.

In the third quarter of 2019, we recorded approximately $13 million in cost of sales compared to $8.7 million in the same period of 2018. The increase was primarily driven by inventory costs related to higher demand for EXONDYS 51 during the third quarter of 2019 as well as accrued royalty payments to BioMarin and the University of Western Australia.

On a GAAP basis, we recorded $133.9 million and $86.6 million of R&D expenses for the third quarters of 2019 and 2018, respectively, which is a year-over-year increase of $47.3 million. R&D expenses were $110.5 million for the third quarter of 2019 compared to $64.2 million for the same period of 2018, an increase of $46.3 million. The year-over-year growth in non-GAAP R&D expense was driven primarily due to continuing ramp-up of our micro-dystrophin program, our ESSENCE program and initiation of certain post-marketing studies for EXONDYS 51.

Turning to SG&A. On a GAAP basis, we recorded $75.4 million and $53 million of expenses for the third quarters of 2019 and '18, respectively, a year-over-year increase of $22.4 million. On a non-GAAP basis, the SG&A expenses were $59.6 million for the third quarter of 2019 compared to $42.5 million for the same period of 2018, an increase of $17.1 million. The year-over-year increase was primarily driven by significant organizational growth and continued expansion to support a commercial launch -- to support our commercial launch plans globally and almost 30 therapies in various stages of development across several therapeutic modalities.

On a GAAP basis, we recorded $2.5 million in other expenses for the third quarter of 2019 compared to $7 million for the same period of 2018. The favorable change is primarily driven by the payoff of certain debt instruments during the third quarter of 2018 as well as a higher return on investments over the third quarter of 2019.

We had approximately $1.1 billion in cash, cash equivalents and investments as of September 30, 2019.

With that, I'd like to turn the call over to Bo for a commercial update. Bo?

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Alexander G. Cumbo, Sarepta Therapeutics, Inc. - Executive VP & Chief Commercial Officer [5]

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Thank you, Sandy. Good afternoon, everyone. To begin, we are pleased with the continued strong performance of EXONDYS 51 in the third quarter. Total revenues reached $99 million. We were also pleased to be in a position to increase our 2019 revenue guidance range from $365 million to $375 million to a range of $370 million to $380 million for EXONDYS 51. Sales have increased quarter-over-quarter for over 3 years now, and we continue to see consistent demand for EXONDYS 51 as we speak today.

Compliance and adherence have remained high and stable since launch and to-date continue to remain steady. It should be noted that in the past 2 years, we've experienced ordering volatility at the end of the year and suspect that we could see a change in ordering patterns with both Christmas and New Year's falling in the middle of the week. Internally, we are assuming the pattern from previous years could be more extreme this year due to both holidays falling midweek. With that said, we feel comfortable with the guidance provided.

The success we achieved this year reflects the impact EXONDYS 51 continues to have on patient lives. We remain the leading voice with KOLs and payers across the world in support of Duchenne patients and are recognized as the leader in RNA and gene therapies within the Duchenne field. Our strategy to advance the very best science, build awareness and appreciation for Duchenne and pave new pathways so Duchenne patients gain access to therapy have resulted in the successful trajectory of EXONDYS 51 since its approval just over 3 years ago and will play a role for future therapies.

As for golodirsen, if approved, we will be ready to launch, leveraging our knowledge and experience to facilitate rapid access to individuals amenable to exon 53. Our work is focused on delivering, and grounding us in all we do is the patient. That journey begins with identifying patients in our core therapeutic areas: Duchenne, the limb-girdle muscular dystrophy and MPS IIIA. Patient identification will be central to the commercial organization for the balance of 2019 and leading into 2020 and beyond. The genetic testing program, Decode Duchenne, which we started with PPMD many years ago, consistently identifies patients. We are also in the process of building genetic testing programs for our other disease states we are working on as well. We believe patient identification will always be one of our primary commercial goals, and we will continue to place resources on these programs.

Another important goal will be gene therapy site readiness. We are already working on global site readiness for our DMD micro-dystrophin program and working with many of the Zolgensma and Spinraza sites treating SMA. Based on the very strong results Novartis demonstrated with their recent launch of Zolgensma and understanding the label and the differences in patient population sizes between the 2 disease states, we believe having a strong network of sites ready and trained to handle gene therapies will be critical. We will continue to focus on this as we move through worldwide development and, if successful, commercialization.

We also believe it is critical to focus on access and reimbursement as early as possible. We're already speaking to and educating large to midsized insurance plans as well as CMS and Medicaid providers on the differences between chronic therapies and onetime gene therapies and the importance of quickly gaining access to these therapies for diseases like Duchenne. We have built constructive relationships with payers over time and look forward to continuing to work with them to support broad access.

In the limb-girdle muscular dystrophy, we are focused on disease education and identifying patients. The limb-girdle muscular dystrophies are a family of diseases, over 30 subtypes in all. Therefore, patient identification is of critical importance. Our plan is to leverage our knowledge and experience to ensure that we're able to serve these communities as we have in Duchenne. We've already attended limb-girdle muscular dystrophy conferences, held educational symposiums at major neuromuscular conferences, held advisory boards to understand how physicians identify and treat patients and already have a digital presence within the community. All of this will help us prepare for the potential to support multiple launches in the years to come.

Sarepta's prospects to transform the lives of patients with rare diseases is unparalleled in the industry. We have the largest neuromuscular RNA and gene therapy pipeline in the industry, and we understand the responsibility that comes with such an important mission.

With that, I will turn the call back to Doug for closing remarks.

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Douglas S. Ingram, Sarepta Therapeutics, Inc. - President, CEO & Director [6]

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Thank you, Bo. So looking forward, we have a number of significant milestones to achieve over the rest of 2019 and through 2020. First, we intend to complete dosing of our SRP-9001 Study 2, that's our micro-dystrophin study, by year-end with functional readout 48 weeks thereafter. We soon intend to launch process development for SRP-9001, not manufacturing for purposes of conducting our next clinical trial, gain insight from the agency on CMC and on our trial itself and then to commence Study 301 by mid-2020. We intend to dose an additional high-dose cohort for limb-girdle 2E and then make a dose selection. We intend to gain regulatory and manufacturing insight and to present an update on the development pathway and time line for our entire limb-girdle program in 2020. Dr. Sahenk intends to commence a proof-of-concept study for CMT gene therapy, NT-3. And we intend to obtain safety and dosing insight for our PPMO program in the first half of 2020. So we obviously have a lot to do but a lot of milestones as well over the coming months and quarters.

Thank you all for joining us tonight, and I'll open up the line for questions now.

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Questions and Answers

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Operator [1]

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(Operator Instructions) Our first question comes from Alethia Young of Cantor Fitzgerald.

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Alethia Rene Young, Cantor Fitzgerald & Co., Research Division - Head of Healthcare Research [2]

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Congrats on all the progress over the quarter. This may be a simple one, but I was just curious to get your perspective around Zolgensma partial hold. And like should we -- is there any -- are there any reads to potentially make thinking about other gene therapy programs?

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Douglas S. Ingram, Sarepta Therapeutics, Inc. - President, CEO & Director [3]

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Thank you for that question, Alethia. Okay. So well, first, let me say this. Let's make sure we're all on the same page. For those of you maybe unaware, I expect everyone is aware, Novartis recently announced that their clinical trial for their AAV9-mediated SMA gene therapy for intrathecal administration was placed on a partial clinical hold due to neurotoxicity that was seen in animal models. So first, understand this, we do not have a unique insight into the Zolgensma clinical hold itself or the Zolgensma program. Certainly, one should look at Novartis to gain accurate insight on that program and those issues.

So with that said, I should tell you, we see no read-through to our program, and there's a host of reasons for that. First, understand that we are dosing peripherally with IV administration. We're not dosing intrathecally as was the issue, as announced by Novartis, regarding that partial clinical hold. And second of all, understand that we're not using AAV9. Dr. Louise Rodino-Klapac who is with us tonight and Dr. Jerry Mendell chose rh74 for a number of specific attributes. One of the significant ones was that rh74, unlike AAV9 as an example, does not promiscuously cross the blood-brain barrier. And unlike SMA where that would be of value, there is absolutely no value to these micro-dystrophin constructs in the CNS at all. They have promoters that wouldn't turn on in the CNS, so there would be no value there. So this seems to have been a very wise choice.

And also note this, that we have an enormous amount of preclinical and animal model evidence with respect to rh74. And even at doses that are multiples higher than we're using in our clinical trial, we have never seen evidence of neurotoxicity as relates to AAVrh74.

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Operator [4]

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Our next question comes from Whitney Ijem of Guggenheim.

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Whitney Glad Ijem, Guggenheim Securities, LLC, Research Division - Senior Analyst of Biotechnology [5]

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Congrats on all the progress. I'll ask a question on the original 4 micro-dystrophin patients. Curious if we'll get an update on them in 2020 either in an update from you or possibly a publication from Dr. Mendell.

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Douglas S. Ingram, Sarepta Therapeutics, Inc. - President, CEO & Director [6]

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Yes. Thanks for that question. Thank you for your comments. So yes, Dr. Mendell has always had a keen interest in publishing the 1-year data on the 4 patients, and he is working on the manuscript even as we speak. So I feel very confident that we'll have a publication in 2020 on the first 4 patients.

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Edited Transcript of SRPT earnings conference call or presentation 7-Nov-19 9:30pm GMT - Yahoo Finance

The National Institute of Health (NIH) has awarded the Willowbrook-based Institute for Basic Research (IBR) a $1.95 million grant over five years to support the study of rare diseases linked to genetic abnormalities.

Although the state-operated facility has expanded its mission in recent years, scientific research into developmental disabilities has been at the core of IBRs work since its founding more than five decades ago.

In that tradition, the NIH award will fund research led by Dr. Gholson Lyon, an IBR psychiatrist and scientist who heads the Genomic Medicine Laboratory in the Department of Human Genetics.

The grantprovides science investigators who have demonstrated ability to make major contributions to medical science the freedom to embark on ambitious, creative, and/or longer-term research projects, the New York State Office for People With Developmental Disabilities (OPWDD) said in a press release.

According to OPWDD, the research will further understanding of the genetic basis for rare diseases that include Ogden syndrome, which was discovered and named by Dr. Lyon.

Occurring in an estimated one of 1,000,000 births, Ogden syndrome is characterized by craniofacial abnormalities, hypotonia, global developmental delays, cryptorchidism, cardiac anomalies, and cardiac arrhythmias, says OPWDD.

The disease is connected to mutation of the NAA10 gene, which affects the bodys proteins and the ability of cells to proliferate. In addition to Ogden Syndrome, Dr. Lyons clinical studies will also focus on other diseases tied to NAA10, and a related gene, NAA15.

These diseases have a profound impact on families, said Dr. Lyon. I am grateful for this support from OPWDD and [the National Institute of Healths National Institute of General Medical Sciences].

Dr. Lyon also works with families at IBRs George A. Jervis Clinic, which offers diagnostic and consultative services for children and adults with intellectual and developmental disabilities.

In addition to Ogden syndrome and related diseases, Dr. Lyon also researches Fragile X syndrome, autism syndromes, and investigates the physiological basis of neuropsychiatric conditions, with the goal of expanding access to preventive services and treatment for those disorders, according to his online bio.

IBR Acting Director Joseph J. Maturi said, Dr. Lyons extensive medical and scientific training and experience will help him successfully undertake these ambitious and important studies."

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Willowbrook-based research facility receives $1.95 million grant to study rare diseases - SILive.com

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Beam Therapeutics, a biotechnology company developing precision genetic medicines through base editing, today announced that it has entered into a collaboration and license agreement with a newly-formed company, Prime Medicine, Inc. to research and develop a novel gene editing technology called prime editing, recently developed by one of Beams co-founders, David Liu, Ph.D., and his group at the Broad Institute of Harvard and MIT.

Under the agreement, Beam has the exclusive right to develop prime editing technology for the creation or correction of any single-base transition mutations, as well as for the treatment of sickle cell disease, both of which Beam is already pursuing with its base editing technology. Transition mutations (e.g. A to G, C to T) are the largest single class of disease-associated genetic mutations, and are also potentially treatable with base editing. Beam plans to evaluate prime editing technology for potential use in future programs.

Part of Beams strategy is to continue to access emerging technologies in gene editing and delivery, while finding new ways to create meaningful options for patients. Our collaboration with, and contribution to the formation of, Prime Medicine is a great example of that approach, allowing us to incorporate prime editing into the Beam platform, said John Evans, chief executive officer of Beam. This partnership enables both companies to advance the technology in distinct spaces, with Beam focusing on the kinds of edits that are most similar to our base editing technology.

As part of the collaboration, Beam is providing initial interim leadership to Prime Medicine for the first year of the collaboration, and will have the right to designate a member on Prime Medicines board. The parties will also grant each other non-exclusive licenses to certain CRISPR technology and delivery technology to enable the development of prime editing products.

About Beam Therapeutics

Beam Therapeutics is developing precision genetic medicines through base editing. Founded by leading scientists in CRISPR gene editing, Beam is pursuing therapies for serious diseases using its proprietary base editing technology, which can make precise edits to single base pairs in DNA and RNA. Beam is headquartered in Cambridge, Massachusetts. For additional information, visit http://www.BeamTx.com.

Read the rest here:
Beam Therapeutics Announces Collaboration and Exclusive License Agreement with Prime Medicine for Prime Editing Technology - Business Wire

SALT LAKE CITY, Nov. 01, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that three studies on Vectra will be featured at the 2019 American College of Rheumatology (ACR) Annual Meeting being held Nov. 8-13, 2019 in Atlanta, GA.

"We are excited to share important new data that demonstrates how precision medicine can advance care for people with rheumatoid arthritis (RA)," said Elena Hitraya, M.D., Ph.D., rheumatologist and chief medical officer at Myriad Autoimmune. "Our studies show that Vectra, an objective measure of RA inflammation, helps identify people with RA that are at risk of joint damage and cardiovascular risk.

A list of presentations at 2019 ACR is below. Please visit Myriad Autoimmune at booth #1419 to learn more about Vectra. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #ACR19.

Abstract

Author

Poster Details

Vectra

Predicting Risk of Radiographic Progression for Patients with Rheumatoid Arthritis

Jeffrey Curtis

Joshua Baker

Jeffrey Curtis

About VectraVectra is a multi-biomarker molecular blood test that provides an objective and personalized measure of inflammatory disease activity in patients with rheumatoid arthritis. Vectra provides unsurpassed ability to predict radiographic progression and can help guide medical management decisions with the goal of improving patient outcomes. Vectra testing is performed at a state-of-the-art CLIA (Clinical Laboratory Improvement Amendments) facility. Test results are reported to the physician five to seven days from shipping of the specimen. Physicians can receive test results by fax or the private web portal, VectraView. For more information on Vectra, please visit: http://www.vectrascore.com.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to data being presented for its genetic tests at the American College of Rheumatology Annual Meeting being held Nov. 8-13, 2019 in Atlanta, GA; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Genetics Announces Multiple Presentations at the 2019 American College of Rheumatology Annual Meeting - BioSpace

When the UK Life Sciences Champion Sir John Bell recently highlighted the need to create new industries within life sciences, Carina Healy immediately saw the potential for Scotland.

When the UK Life Sciences Champion Sir John Bell recently highlighted the need to create new industries within life sciences, Carina Healy immediately saw the potential for Scotland.

Sir John, speaking at the Medicines and Healthcare Products Regulatory Agency, identified genomics, digital health and early diagnosis as three areas where the UK could develop new industries and remain a world leader in life sciences.

Healy, a partner and life sciences specialist with international legal firm CMS, says: These areas play into what we do well in Scotland and present very big opportunities. Healy goes on to explain these new industries and the potential they hold for Scotland.

Genomics using genotyping to inform how patients are treated is closely linked to precision or stratified medicine, where Scotland is already excelling.

Precision medicine allows doctors to tailor treatments to each patients specific needs, which can save lives, avoid unpleasant side-effects caused by unsuitable treatments and save the NHS money.

Scotland has great expertise in this area, with world-class academic research and cutting-edge companies developing new treatments to benefit the NHS. This is backed by innovative initiatives such as the Stratified Medicine Scotland Innovation Centre based at the Queen Elizabeth University Hospital (QEUH) in Glasgow, which brings together specialists from across academia, industry and the NHS.

One challenge facing this new industry is how to use the wealth of genetic data now available to inform medical treatment. Although genetic testing is getting increasingly more affordable, further research is needed to link that genetic data to specific diseases and treatment options.

As Healy explains: The technology is there, but it doesnt tell you much yet. However, in areas like breast cancer, the use of the BRCA and HER-2 biomarkers is well-established and gives a clear indication of whether a certain class of patient is at risk or will respond to a specific drug like Herceptin.

Healy says that, in the hospital of the future, an individuals genetic profile is likely to be available in the same way as access to, for example, an individuals blood type. She says: Were still quite far away, but weve decoded the genome and can do it cost-effectively. With further research we will be able to know how to make best use of this data to deliver more effective health care for individual patients.

A UK government science and innovation audit of precision medicine in Scotland this year, led by the University of Glasgow, highlighted the significant assets Scotland has in this field and their potential. It suggested the effective use of electronic health records could drive collaboration and help turn academic research and innovation into better clinical practice.

Healy says the universitys bid for a Strength in Places grant to create a Living Laboratory for precision medicine at QEUH is an excellent example of how Scotland can bridge the gap between genomics research and patient benefit.

Digital health, which uses software, mobile apps and digital technology for health purposes, is an area where Healy thinks Scotland has work to do but has all the key skills in place to make real progress.

We have real strength in informatics, data science and AI in our academic research institutions, she says. Although we need to integrate those sectors better with life sciences and healthcare. The potential is there to build real capacity and deliver tangible patient benefits.

In terms of digital health, this means making healthcare more efficient through use of digital technology, and improving the patient-facing offering.

Scotland has great assets in the IT sector generally, from Silicon Glen to the burgeoning technology scene in Edinburgh. The capital is set to receive further investment in technology infrastructure as part of the 1.3 billion Edinburgh City Region Deal, which will focus on data-driven innovation and help boost Scotlands existing capabilities.

The key to realising Scotlands potential in the new digital health industry will be in linking the countrys digital expertise with its life sciences expertise to create new solutions. Work to link Scotlands technology and life sciences industries has already begun. Exscientia, a company founded in Dundee, has been at the forefront of using digital technology to improve the drug discovery process, resulting in several collaborations this year with big-name drugs companies.

Further collaboration between the two industries will be supported by Glasgows Industrial Centre for Artificial Intelligence Research in Digital Diagnostics iCAIRD which involves 15 partners from across academia, industry and the NHS.

Healy stresses that although collaboration between private companies and the NHS has huge potential benefits, these collaborations must be structured correctly. It is especially important to address ethical and legal issues in accessing and managing patients data.

The collaboration between Googles DeepMind and Londons Royal Free Hospital, which involved the transfer of personal data of 1.6 million patients, was an example of a collaboration that was not structured correctly and was found to be in breach of data protection laws. Healy says: This erodes public trust in these types of initiatives, despite the very obvious benefits in healthcare treatment that can be generated.

Despite this setback, DeepMinds Streams app is now in use at the Royal Free Hospital and has been shown to enable consultants to treat acute kidney injury faster, potentially saving the NHS on average 2,000 per patient and saving consultants up to two hours per day.

The great advantage for Scotland is that we have one NHS. We can access data sources more easily and we can pool it more effectively, says Healy. However, practices can vary across different hospitals and trusts, and clear central guidance would be helpful to ensure data is used both ethically and effectively.

There are also issues around data quality as it is, of course, collected for clinical purposes, not for research or for training artificial intelligence systems.

The ultimate goal is to pool data for patient benefit, and to structure collaborations between private companies and the NHS carefully so personal data is managed appropriately.

There are also potential societal and political issues around ensuring all patients can benefit from digital health initiatives, for example in areas like GP surgery triage. Systems such as Babylon and DrDoctor allow patients remote access to GP services, but often benefit specific groups rather than the whole population.

Younger, more IT-literate patients who have a specific issue but are generally healthier tend to use systems like this, while older, less IT-savvy patients with chronic conditions still go to GP surgeries, says Healy. So GP surgeries are left with patients who need more care and time, but the funding per patient is the same. The digital health gap between different generations will close over time, but it is still quite wide now.

Overall, Healy notes, the message is that digital health offers huge opportunities in Scotland:

We need to encourage more health tech businesses to work with the NHS in Scotland and get more entrepreneurs looking at this area. There are big opportunities for new entrants.

In the third new life sciences industry, early diagnostics, Healy also sees a huge area of unmet need and opportunity in Scotland. She cites image recognition AI, where, for example, training an artificial intelligence system using large numbers of CT scans can mean tumours are spotted more quickly and accurately than using a surgeons eye, leading to earlier diagnosis, which in turn means more successful treatment for patients and potential savings for the NHS.

Scottish-based companies, including Canon Medical Research Europe, are exploring how technology such as AI can help with early diagnosis. Canons research, supported by the Scottish Funding Council, is looking for innovative ways to diagnose and measure mesothelioma tumours, which are particularly difficult to measure and treat.

Collaborations between Scottish companies and the NHS which capitalise on the organisations pool of health data will be a big boost to research and development of early diagnostics, particularly with the help of AI.

Although Healy recognises the challenges in collaborating on such projects, she is positive about the future: It can still be hard to break down NHS silos and work through its contracting processes. However, Scotlands strength is underpinned by excellent collaboration between the NHS, academia and industry. You can see it working in projects like iCAIRD and the QEUHs Clinical Innovation Zone.

Healy sees this as a good reason for Scotland to be positive about its life sciences industry and its opportunity to make the most of Sir Johns three new industries genomics, digital health and early diagnostics. It all comes back to that strong, deep collaboration. We need to build on that and keep selling Scotlands strengths to a wider global marketplace.

Our academic base is really strong, we have one NHS with very good electronic health records and the ability of industry to collaborate across different academic and NHS bodies to deliver positive patient outcomes.

Find out more at CMS.

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CMS on how life sciences advancements are improving patient care - The Scotsman

A blood test that measures the amount of cell-free DNA (cfDNA) in the bloodstreamcalled a liquid biopsycorrelates with how patients will progress after they are diagnosed with glioblastoma (GBM), the deadliest and most common primary brain tumor in adults

In a new study, researchers from theAbramson Cancer Center are the first to show that patients with a higher concentration of cfDNAcirculating DNA that cancer and other cells shed into the bloodhave a shorter progression-free survival than patients with less cfDNA, and that cfDNA spikes in patients either at the time of or just before their disease progresses. The team also compared genetic sequencing of solid tissue biopsies in GBM side-by-side with the liquid biopsies and found that while both biopsies detected genetic mutations in more than half of patients, none of those mutations overlapped, meaning liquid biopsy may provide complementary information about the molecular or genetic makeup of each tumor.Clinical Cancer Research, a journal of the American Association for Cancer Research,published the findings.

Doctors have begun using liquid biopsies more frequently to monitor certain cancersparticularly lung cancerin recent years as research has shown their effectiveness in other disease sites. But until now, there has been little focus on the clinical utility of liquid biopsy in brain tumors, said the studys senior authorErica L. Carpenter, director of the Liquid Biopsy Laboratory and a research assistant professor of medicine.

The findings may eventually prove impactful for GBM patients. The disease is particularly aggressive, and while most estimates show there are around 11,000 new cases each year, the five-year survival rate is between 5and 10 percent.

Read more at Penn Medicine News.

Excerpt from:
Blood test can predict prognosis in deadly brain cancer - Penn: Office of University Communications

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit.

When Nathaly Sweeney launched her career as a pediatric heart specialist a few years ago, she says, it was a struggle to anticipate which babies would need emergency surgery or when.

"We just didn't know whose heart was going to fail first," she says. "There was no rhyme or reason who was coming to the intensive care unit over and over again, versus the ones that were doing well."

Now, just a few years later, Sweeney has at her fingertips the results of the complete genome sequence of her sickest patients in a couple of days.

That's because of remarkable strides in the speed at which genomes can be sequenced and analyzed. Doctors who treat newborns in the intensive care unit are turning to this technology to help them diagnose their difficult cases.

Sweeney sees her tiny patients in the neonatal intensive care unit of Rady Children's Hospital in San Diego. Doctors there can figure out what's wrong with about two-thirds of these newborns without a pricey DNA test. The rest have been medical mysteries.

"We had patients that were lying here in the hospital for six or seven months, not doing very well," she says. "The physicians would refer them for rapid genome sequencing and would diagnose them with something we didn't even think of!"

Rady's Institute for Genomic Medicine, which has been pioneering this technology, has now sequenced the genomes of more than 1,000 newborns.

In a building across the street from the hospital, three $1 million sequencing machines form the core of the operation. Technicians tending to the NovaSeq 6000s can put DNA from babies (and often their parents) into the machine in the late afternoon and have a complete genome sequence back by 11 a.m. or noon the next day, says clinical lab scientist Luca Van der Kraan.

That fact is worth repeating: An entire genome is decoded in about 16 hours.

Kasia Ellsworth is one of the experts waiting in a nearby office to analyze the information. That task has shrunk from months to typically just four hours, thanks to increasingly sophisticated software.

Ellsworth inputs the baby's symptoms into the software, which then spits out a long list of genetic variants that might be related to the illness. She scrolls down the screen.

"I'm looking through a list of those variants and then basically deciding whether something may be truly contributing to the disease or not," she says.

About 40% of the time, a gene stands out, giving doctors a tentative diagnosis. Follow-up tests are often requested, and those can take several days. But in the meantime, doctors can sometimes act on the information they have in hand.

When she or a colleague makes a diagnosis, "You always feel very relieved, very happy and excited," she says. "But at the same time you kind of need to put it in perspective. What does it mean for the family, for the patient, for the clinician as well?"

Often it's a sense of relief. And for a minority of cases, it can affect the baby's treatment.

"We now are at the point where I think the evidence is overwhelming that a rapid genome sequence can save a child's life," says Dr. Stephen Kingsmore, the institute's director and the driving force behind this revolution.

By his reckoning, the results change the way doctors manage these cases about 40% of the time.

Treatments are available for only a small share of these rare diseases. In other cases, the information can help parents and doctors understand what's wrong with their baby even if there is no treatment or learn whether death is inevitable. "And there it's a very different conversation," Kingsmore says. "We help guide parents through picking an appropriate point at which to say enough is enough" and to end futile treatments.

Of course, Kingsmore highlights the happier outcomes. One example is a bouncy girl named Sebastiana, now approaching her third birthday.

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age.

He showed off her case recently in front of the Global Genes conference, a meeting of families with rare genetic conditions.

"She was critically ill in our intensive care unit," he tells the audience, "and in a couple of days we gave the doctors the answer. It's Ohtahara syndrome. It comes with this specific therapy. And she hasn't had a seizure in 2 1/2 years. She doesn't take any medication."

The audience applauds enthusiastically at an outcome that sounds miraculous. But when you meet Sebastiana and her mother, Dolores Sebastian, a more complicated story emerges.

Ohtahara syndrome isn't actually what made Sebastiana ill it's a term doctors use to describe newborn seizures. Those are actually a symptom of deeper brain issues. That was apparent the day she was born.

"She was acting weird and screaming and crying and turning purple and we weren't sure why," her mother says.

The hospital where Sebastiana was born rushed her to the neonatal intensive care unit, across town at Rady. She was having frequent seizures. The following days were a nightmare for Sebastian and her husband.

"I can't even describe it," she says. "I always keep on saying that at that moment I was kind of like dead, but I was walking."

The hospital ran a battery of tests to look for severe brain damage. They couldn't get to the bottom of it.

"They came in and offered us the genomic testing," Sebastian said. "They never told us how quick it would be."

She was surprised when the results were back in four days. The doctor told her they had identified a gene variant that can trigger seizures as well as do other harm to the brain.

"He said this is how we're going to go ahead and change her medications now and treat her," she says. And that made a "huge difference, [an] amazing difference."

Sebastiana was already on a medication that was helping control her seizures, but they sedated her to the extent that she needed a feeding tube. On the new medication, carbamazepine, she was alert and able to eat, and her seizures were still under control. Sebastian says her daughter is still taking that drug.

Controlling her seizures isn't a cure. Children who have this genetic variant, in a gene called KCNQ2, can have a range of symptoms from benign to debilitating. Sebastiana falls somewhere in between. For example, she has only a few words in her vocabulary as she approaches the age of 3.

"She took her first steps when she was 2 years old, so she's delayed in some things," Sebastian says, "but she's catching up very quickly. She has [physical therapy]; she's going to start speech therapy. She gets a lot of help but everything's working."

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel.

KCNQ2 variants are the most common genetic factor in epilepsy, causing about a third of all gene-linked cases and about 5% of all epilepsies. Sebastiana's case could have been diagnosed with a less expensive test. For example, Invitae geneticist Dr. Ed Esplin says his company offers a genetic screen for epilepsy that has a $1,500 list price and a two-week turnaround.

Rady's whole-genome test costs $10,000, Kingsmore says. But it casts a wider net, so it might provide useful information if a baby's seizures are caused by something other than epilepsy.

And Kingsmore says his test costs about as much as a single day in the NICU. "In some babies we avoid them being in the intensive care unit literally for months," he says.

Kingsmore and colleagues have published some evidence that their approach is cost-effective, based on an analysis of 42 cases.

Even so, most insurance companies and state Medicaid programs are still balking at the cost. Kingsmore says private donors are helping support this effort at Rady, which sequences about 10% of the babies in the NICU, and at more than a dozen others scattered from Honolulu to Miami. They send their samples to Rady for analysis.

Kingsmore is pushing to expand his network in the next few years, to reach 10,000 babies at several hundred children's hospitals.

Other providers are also starting to offer whole-genome sequencing. But Dr. Isaac Kohane, chair of the department of biomedical informatics at Harvard Medical School, worries that the technology is too unreliable.

Knowledge of genes and disease is evolving rapidly, so these analyses run the risk of either missing a diagnosis or making a mistaken one. Kohane says there's still a lot of dubious information there a typical person has 10 to 40 gene variants that the textbooks incorrectly identify as causing disease.

Kohane is part of a medical network that helps diagnose people with baffling diseases. A study from 2018 found "a third of the patients who actually come to us already had full genome sequences and interpretations," Kohane says. "They were just not correct."

Even so, Kohane sees this use in the NICU as a relatively fruitful use of gene sequencing. "This is one of the few areas where I think the Human Genome Project is really beginning to pay off in health care," he says, "but buyer beware, it's not something ready to be practiced in every hospital." (He supports the work at Rady in fact, he is a science adviser.)

Kingsmore is already looking ahead. "We want to solve the next bottleneck, which is, 'I don't have a great treatment for this baby,' " he says. That's a far greater challenge, and it's especially difficult for a mutation that has altered a baby's development in the womb. Those problems may often not be reversible.

Kingsmore is undeterred. "It's going to be an incredibly exciting time in pediatrics," he says.

You can contact NPR science correspondent Richard Harris at rharris@npr.org.

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Genome Sequencing In NICU Can Speed Diagnosis Of Rare Inherited Diseases : Shots - Health News - NPR

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Veracyte, Inc. (Nasdaq: VCYT) today announced new data that advance understanding of the frequency, positive predictive value and co-occurrence of genomic alterations that are targeted by newly available and investigational precision medicine therapies for thyroid cancer. The findings were enabled by Afirma Xpression Atlas analyses, which uses RNA sequencing, of Veracytes extensive biorepository of thyroid nodule fine needle aspiration (FNA) samples from patients undergoing evaluation for thyroid cancer. The data were presented this week during the 89th Annual Meeting of the American Thyroid Association (ATA).

In one study, researchers assessed the frequency of ALK, BRAF, NTRK and RET fusions in nearly 48,000 consecutive patients whose thyroid nodule FNA samples were deemed indeterminate, suspicious for malignancy or malignant (Bethesda III/IV, V and VI categories, respectively) by cytopathology. The researchers found that 425 (0.89 percent) of the FNA samples harbored one of the alterations, with NTRK fusions the most common at 0.38 percent, followed by RET (0.32 percent), BRAF (0.13 percent) and ALK (0.06 percent). Additionally, RNA whole transcriptome sequencing demonstrated differences in the prevalence of these four fusions across Bethesda categories, with Bethesda V being the highest.

NTRK fusion inhibitors have received pan-cancer FDA approval and clinical trials have included selective inhibitors of ALK, BRAF, NTRK and RET, which makes their detection in patients with thyroid cancer of interest to physicians, said Mimi I. Hu, M.D., professor at The University of Texas MD Anderson Cancer Center, who presented the findings in a poster. As our understanding of the role of genomics in thyroid cancer advances, this information offers the potential to optimize initial treatment, predict response to treatment and prioritize selective targeted therapy should systemic treatment be needed.

In another study, researchers evaluated the positive predictive value of the NTRK, RET, BRAF and ALK fusions in 58 patients with indeterminate thyroid nodules (Bethesda III/IV categories) from Veracytes biorepository for whom surgical pathology diagnoses were available. They found that NTRK and RET fusions were associated with malignancy in 28 of 30 nodules, while risk of malignancy was lower among nodules with ALK (67 percent) or BRAF (75 percent). In a third study, researchers found that when using RNA sequencing data on a large sample of nearly 48,000 thyroid nodule FNA samples (Bethesda categories III-VI), they identified 263 co-occurrences of gene fusions and variants that were previously considered mutually exclusive.

The findings from these three studies underscore the power of our extensive biorepository of thyroid nodule FNA samples and our optimized RNA sequencing platform to advance understanding of the genomic underpinnings of thyroid cancer and to better capture the biology of thyroid lesions, said Richard T. Kloos, M.D., senior medical director, endocrinology, at Veracyte. As precision medicine therapies that target specific gene alterations emerge, understanding individual patients genomic profiles becomes increasingly important to physicians. Our Afirma Xpression Atlas provides this information at the same time as initial diagnosis with the Afirma Genomic Sequencing Classifier, or GSC, to help inform treatment decisions.

Also during the ATA meeting, Veracyte unveiled its new Afirma patient report, which in addition to identifying patients with benign or suspicious-for-cancer nodules among those deemed indeterminate by cytopathology, based on Afirma GSC results, now provides individualized and actionable variant and fusion information on each patient. This information includes: risk of malignancy, associated neoplasm type, relative risk of lymph node metastasis and extrathyroidal extension; availability of FDA-approved therapy; and genetic counseling and germline testing considerations. This information is also provided for patients with cytopathology results that are suspicious for malignancy or malignant (Bethesda V and VI).

About Afirma

The Afirma Genomic Sequencing Classifier (GSC) and Xpression Atlas provide physicians with a comprehensive solution for a complex landscape in thyroid nodule diagnosis. The Afirma GSC was developed with RNA whole-transcriptome sequencing and machine learning and helps identify patients with benign thyroid nodules among those with indeterminate cytopathology results in order to help patients avoid unnecessary diagnostic thyroid surgery. The Afirma Xpression Atlas provides physicians with genomic alteration content from the same fine needle aspiration samples that are used in Afirma GSC testing and may help physicians decide with greater confidence on the surgical or therapeutic pathway for their patients. The Afirma Xpression Atlas includes 761 DNA variants and 130 RNA fusion partners in over 500 genes that are associated with thyroid cancer.

About Veracyte

Veracyte (Nasdaq: VCYT) is a leading genomic diagnostics company that improves patient care by providing answers to clinical questions that inform diagnosis and treatment decisions without the need for costly, risky surgeries that are often unnecessary. The company's products uniquely combine RNA whole-transcriptome sequencing and machine learning to deliver results that give patients and physicians a clear path forward. Since its founding in 2008, Veracyte has commercialized seven genomic tests and is transforming the diagnosis of thyroid cancer, lung cancer and idiopathic pulmonary fibrosis. Veracyte is based in South San Francisco, California. For more information, please visit http://www.veracyte.com and follow the company on Twitter (@veracyte).

Cautionary Note Regarding Forward-Looking Statements

This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements can be identified by words such as: "anticipate," "intend," "plan," "expect," "believe," "should," "may," "will" and similar references to future periods. Examples of forward-looking statements include, among others, the ability of Veracytes Afirma Xpression Atlas to analyze FNA samples to help diagnose thyroid cancer, the expected impacts of Veracytes collaboration with Johnson & Johnson in developing interventions for lung cancer, on Veracytes financial and operating results, on the timing of the commercialization of the Percepta classifier, and on the size of Veracytes addressable market. Forward-looking statements are neither historical facts nor assurances of future performance, but are based only on our current beliefs, expectations and assumptions. These statements involve risks and uncertainties, which could cause actual results to differ materially from our predictions, and include, but are not limited to: our ability to achieve milestones under the collaboration agreement with Johnson & Johnson; our ability to achieve and maintain Medicare coverage for our tests; the benefits of our tests and the applicability of clinical results to actual outcomes; the laws and regulations applicable to our business, including potential regulation by the Food and Drug Administration or other regulatory bodies; our ability to successfully achieve and maintain adoption of and reimbursement for our products; the amount by which use of our products are able to reduce invasive procedures and misdiagnosis, and reduce healthcare costs; the occurrence and outcomes of clinical studies; and other risks set forth in our filings with the Securities and Exchange Commission, including the risks set forth in our quarterly report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof and Veracyte specifically disclaims any obligation to update these forward-looking statements or reasons why actual results might differ, whether as a result of new information, future events or otherwise, except as required by law.

Veracyte, Afirma, Percepta, Envisia and the Veracyte logo are trademarks of Veracyte, Inc.

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Veracyte Announces New Data That Advance Understanding of Genomic Alterations Targeted by Precision Medicine Therapies for Thyroid Cancer - Business...

If you cannot say yes, then you should keep your mouth shut and thank God every day that you never had to make such a truly hard decision.

Deborah KratterHalf Moon Bay, Calif.

To the Editor:

Im a young, female pro-life activist. Ive donated to pro-life organizations. Spread pro-life information to others. Marched in the streets. Abortion is a massive injustice that violates the right to life.

Ms. Werking-Yip, you admitted that having an abortion meant killing your daughter. Picture someone murdering a 5-year-old girl because they believed she was too sick, too disabled, too abnormal. Society would be horrified. Strangely, its different for a child in a womb.

Every child deserves a chance to live life as much as possible, to stay strong against suffering, to hope for cures to rare disorders, to spend time with loved ones, to be themselves, to be human. Your daughter would have been a gift for this world, an inspiration to others, unique, beautiful. Dont diminish this precious creation of God by arguing that she doesnt deserve to be here.

Jasmine ClarkRaleigh, N.C.

To the Editor:

Having just finished reading Lyndsay Werking-Yips heart-wrenching column, I must say how much I admire the strength she and her husband showed not just in terminating their pregnancy but also in writing openly about their decision.

I have two daughters who are both in week 21 of their first pregnancies. If either of them is faced with a diagnosis as devastating as Ms. Werking-Yips, I hope to God they will make the decision she did with her husband to save a child from a lifetime of suffering. To me that is the definition of parental love.

Carrie C. MahinRadford, Va.

To the Editor:

Six weeks after our daughter was born in 1981, we received the diagnosis following a routine CT scan of her brain. She had suffered a massive stroke to the left temporal lobe, most likely in utero. We were told there were a range of possible outcomes in terms of her development and degree of physical and cognitive impairment.

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Abort to Save a Child From a Life of Suffering? - The New York Times

Understand biology and engineer biology. These are the goals of synthetic biology in brief. Due to the developments in sequencing and DNA synthesis, scientists can construct genetic constructs and edit genomes. These tools answer basic research questions and provide biological applications. But synthetic biology can never reach its full potential until artificial genome writing becomes commonplace.

Chromosomes are the hard drives of cells. They contain most of the cells DNA and genes. Bacteria and archaea typically have a single circular chromosome, while eukaryotes contain several linear ones. Besides genetic information, a chromosome contains structural elements. Centromers (that participate in mitosis), telomers (that have a role in maintaining linear chromosome integrity), and origins of replication (that are where DNA replication starts in circular DNA pieces) are some well-known examples.

Artificial chromosomes are chromosomes that have been fully constructed in the lab and assembled within a cell. An important note: artificial chromosomes do not mean artificial life. They function normally within cells and the DNA used is the same as the one found in nature. What is different is their origin they dont come from a DNA template duplication and the genetic information they carry.

The advantages of building a chromosome align with both goals of synthetic biology. The role of many DNA elements is unknown. By recombining, adding, or deleting DNA sequences, we can understand if a genetic part is essential and what does it do. By rewriting a genome from scratch, we can obtain a cell with specific properties and only them! Such cells are invaluable tools for applied and fundamental research.

Current DNA technology makes the construction of short DNA pieces easy and available to most research labs, but the same cannot be said for chromosome assembly. And this is not surprising: a plasmid with a few genes contains a few thousand base pairs; a chromosome several million or billion! As a result, there are very few reported artificial chromosomes reported. The emblematic Yeast 2.0 consortium reported the construction and assembly of six of the yeasts chromosomes. A research group from Switzerland designed and assembled a full bacterial chromosome with its genome minimized to the essential components; so far, they havent managed to insert the chromosome to the organism. A minimal bacterial cell with a synthetic genome was nevertheless announced in 2016 by J. Craig Venter Institute scientists. And recently the molecular biology workhorse, the bacterium E. coli, got its genome replaced by a synthetic variant.

All these works required a huge amount of resources and faced tremendous challenges. And despite the successes, we are a long way from mastering the craft of genome writing. In a recent article, Nili Ostrov and her collaborators in the field of synthetic genomics outline the technological advances needed to reach this goal. They list the following areas of focus: genome design, DNA synthesis, genome editing, and chromosome assembly.

Designing the synthetic chromosome is the first step of a construction workflow. And this step is probably the most critical, as an error there will condemn the whole effort into failure. The information hidden into a genome is too vast to be handled manually. This requires computer aided design tools, which are currently under development. These tools should also predict the effect of alterations in the sequence. Ideally, design software should model how a cell will behave when the synthetic genome replaces its native one.

Chemical DNA synthesis can provide DNA oligos a few hundred base pairs long. This is simply not good enough for chromosome synthesis. DNA synthesis will need to reach the scale of several thousand base pairs, decrease its error rate. And the assembly workflows should minimize the need of iterative cloning steps.

Genome editing is the key to generate many synthetic genome variants. Constructing a chromosome de novo will always be laborious. Genome editing will reduce the need of reconstructing from scratch when we need to insert a few (say, a few thousand) mutations to mimic a certain phenotype. Multiplex genome editing already exists. But instead of 20-50 edits, the techniques should allow for many thousand.

The last step of chromosome writing is the assembly of the final construct. Throwing the smaller DNA parts inside a bakers yeast cell and use its DNA repair system to stitch them up is how its currently done, and it works well. However, the yeast has limitations on what kind of DNA sequences it can work with. For a bigger variety of constructs, we will need more hosts and transformation methods.

Genome writing will accelerate the synthetic biology and genetic engineering applications. In medicine, engineered cells could become accurate disease models, increasing therapeutic efficiency and reducing the need for animal testing. In agriculture, plant cells with engineered genome or plastome can guide breeding and editing efforts to increase productivity and crop robustness. In metabolic engineering, cells will produce compounds optimally. And if we want to adapt organisms for life beyond earths boundaries, chromosome editing will let us test radical redesigns and insert novel properties.

Ostrov and collaborators write that many of the technological breakthroughs can be achieved within the next years. It sounds a bit optimistic, but lets hope we will be pleasantly surprised. Chromosome engineering has the potential to benefit all humankind, but we should be careful to not overhype the potential and promise things we cant deliver. And as the authors say and I couldnt agree more we have to be transparent, ethical, and share the advances globally.

Kostas Vavitsas, PhD, is a Senior Research Associate at the University of Athens, Greece. He is also community editor for PLOS Synbio and steering committee member of EUSynBioS. Follow him on Twitter @konvavitsas

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For synthetic biology to reach its potential, building new chromosomes from scratch must become commonplaceand we may be getting close - Genetic...

The story so far: The Council of Scientific and Industrial Research (CSIR) recently announced the conclusion of a six-month exercise (from April 2019) of conducting a whole-genome sequence of a 1,008 Indians. The project is part of a programme called IndiGen and is also seen as a precursor to a much larger exercise involving other government departments to map a larger swathe of the population in the country. Project proponents say this will widen public understanding in India about genomes and the information that genes hide about ones susceptibility to disease.

A genome is the DNA, or sequence of genes, in a cell. Most of the DNA is in the nucleus and intricately coiled into a structure called the chromosome. The rest is in the mitochondria, the cells powerhouse. Every human cell contains a pair of chromosomes, each of which has three billion base pairs or one of four molecules that pair in precise ways. The order of base pairs and varying lengths of these sequences constitute the genes, which are responsible for making amino acids, proteins and, thereby, everything that is necessary for the body to function. It is when these genes are altered or mutated that proteins sometimes do not function as intended, leading to disease.

Sequencing a genome means deciphering the exact order of base pairs in an individual. This deciphering or reading of the genome is what sequencing is all about. Costs of sequencing differ based on the methods employed to do the reading or the accuracy stressed upon in decoding the genome. Since an initial rough draft of the human genome was made available in 2000, the cost of generating a fairly accurate draft of any individual genome has fallen to a tenth, or to a ball park figure of around $1,000 (70,000 approximately). It has been known that the portion of the genes responsible for making proteins called the exome occupies about 1% of the actual gene. Rather than sequence the whole gene, many geneticists rely on exome maps (that is the order of exomes necessary to make proteins). However, it has been established that the non-exome portions also affect the functioning of the genes and that, ideally, to know which genes of a persons DNA are mutated the genome has to be mapped in its entirety. While India, led by the CSIR, first sequenced an Indian genome in 2009, it is only now that the organisations laboratories have been able to scale up whole-genome sequencing and offer them to the public.

Under IndiGen, the CSIR drafted about 1,000 youth from across India by organising camps in several colleges and educating attendees on genomics and the role of genes in disease. Some students and participants donated blood samples from where their DNA sequences were collected.

Globally, many countries have undertaken genome sequencing of a sample of their citizens to determine unique genetic traits, susceptibility (and resilience) to disease. This is the first time that such a large sample of Indians will be recruited for a detailed study. The project ties in with a much larger programme funded by the Department of Biotechnology to sequence at least 10,000 Indian genomes. The CSIRs IndiGen project, as it is called, selected the 1,000-odd from a pool of about 5,000 and sought to include representatives from every State and diverse ethnicities. Every person whose genomes are sequenced would be given a report. The participants would be informed if they carry gene variants that make them less responsive to certain classes of medicines. For instance, having a certain gene makes some people less responsive to clopidogrel, a key drug that prevents strokes and heart attack. The project involved the Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), the CSIR-Institute of Genomics and Integrative Biology (IGIB), and cost 18 crore.

Anyone looking for a free mapping of their entire genome can sign up for IndiGen. Those who get their genes mapped will get a card and access to an app which will allow them and doctors to access information on whether they harbour gene variants that are reliably known to correlate with genomes with diseases. However, there is no guarantee of a slot, as the scientists involved in the exercise say there is already a backlog. The project is free in so far as the CSIR scientists have a certain amount of money at their disposal. The driving motive of the project is to understand the extent of genetic variation in Indians, and learn why some genes linked to certain diseases based on publications in international literature do not always translate into disease. Once such knowledge is established, the CSIR expects to tie up with several pathology laboratories who can offer commercial gene testing services.

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What is 'IndiGen' project that is sequencing Indian genes? - The Hindu

SINGAPORE - The Rare Disease Fund (RDF) now covers Singaporeans with Pompe disease - a rare inherited neuromuscular disorder where patients can incur medical expenses in excess of $500,000 each year.

The committee overseeing the fund announced on Sunday (Nov 3) that citizens can now apply for financial aid to help with their medical expenses for the disease which affects about one in every 40,000 live births.

With the addition, the fund now covers four conditions including primary bile acid synthesis disorder; Gaucher disease; and hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiency.

The fund has approved two applications for financial support so far. One of the beneficiaries is Mr Geoffrey Toi, a public servant whose three-year-old son Christopher suffers from primary bile acid synthesis disorder.

The condition interferes with the production of bile acids and if untreated, can lead to liver failure.

The fund covers a larger portion of Christopher's medication costs, which is currently about $6,250 a month, as compared to Medifund Junior, which had previously subsidised part of his medical fees.

"It was a blessing when this fund was announced, because it specifically covered his condition. Every bit of help matters," said Mr Toi, 35.

The fund was launched by the Ministry of Health (MOH) and SingHealth Fund in July this year. It combines community donations and Government-matched contributions to provide aid for Singapore citizens with specific rare diseases.

Senior Minister of State for Health and Law Edwin Tong said on Sunday that the fund recently received significant support from Temasek and the Tsao Family Fund.

"The listing of Pompe is possible because we have so many generous benefactors who have stepped forward selflessly, with a lot of compassion, to donate to the RDF," he added.

The fund has grown from $70 million last July to about $90 million, with the government matching community donations by three to one.

In addition, the Government is funding all operational expenses involved in managing the fund, ensuring that all donations received will be used solely for supporting patients.

"We hope that philanthropists, companies, community groups and individuals will continue to come forward as a society, as a community to help support patients with rare diseases... As more funds are raised, the Rare Disease Fund can be expanded further to cover even more types of treatments and more patients in future," said Mr Tong, who was attending a community carnival organised by Mount Alvernia Hospital in support of the RDF.

The carnival in Punggol raised more than $200,000 for beneficiaries of the fund. The sum includes three-to-one government matching.

Rare diseases are defined by MOH as conditions that affect fewer than one in 2,000 people, and mostly are genetic and often surface during childhood. There are no official numbers on how many people in Singapore have such rare diseases.

In some cases, effective treatments are available and the medicines can substantially increase patients' life expectancies and improve quality of life.

However, MOH noted that these medicines can be very costly, going up to hundreds of thousands of dollars a year, and patients will often need to take them for the rest of their lives.

Pompe disease is caused by a defective gene that results in a deficiency of an enzyme.

It results in the excessive build-up of a substance called glycogen, a form of sugar that is stored in a specialised compartment of muscle cells throughout the body.

Symptoms of the disease include extreme muscle weakness and breathing difficulties. The progressive nature of the disease means that it worsens over time, with the speed of progression varying from patient to patient.

Mr Kenneth Mah, whose 10-year-old daughter Chloe has Pompe disease, cheered the move to cover the disease under the RDF.

While insurance covers much of her treatment cost now - which is in excess of $40,000 a month - it may not be enough in future as she gets older and needs more of medicine.

"It gives us a greater peace of mind," said Mr Mah, 49, who ended his mobile phone business to become the main caregiver for Chloe.

Mr Mah is also the co-founder of the Rare Disorders Society Singapore.

"We hope that the fund will be able to cover all rare disorders in the future, as it gets more support from society."

More information on the RDF is available at http://www.kkh.com.sg/rarediseasefund

Visit link:
Rare Disease Fund now covers Pompe disease, a rare inherited neuromuscular disorder - The Straits Times

The University of Michigan Genetic Counseling Programis one of the most well established programs in the country and exemplifies our long history of innovation in clinical service and education in genetics and genomics. Michigan graduates emerge as extremely well rounded genetic counselors, who are ready to meet the current challenges in clinical genomic medicine and are able to help guide the evolving practice of genetic counseling and genomic medicine.

The vision of the University of Michigan Genetic Counseling Program is to train genetic counselors that are able to meet the current challenges and to help shape the future of genetic counseling and genomic medicine.

Our mission is to provide an individualized, integrated and supportive graduate training environment comprised of:

Most importantly, our graduate training program is responsive to the interests and unique needs of individual students.

For more information about the U-M Genetic Counseling Program see our2020 Program Prospectus.You can also join us at either of our 'Open House' events:

Introduction to the UMGCP-WebinarOctober 2, 2019; 4-5:30 pm

Introduction to the UMGCP-Open House in Ann ArborOctober 18, 2019; 3-5 pm

Click the above links for details about the event and information on how to RSVP!

Contact us at UMGenetics@umich.edu.

The University of Michigan Masters in Genetic Counseling program is accredited by the Accreditation Council for Genetic Counseling (ACGC), located at 4400 College Blvd., Ste. 220, Overland Park, KS 66211, web addresswww.gceducation.org. ACGC can be reached by phone at 913.222.8668.

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Genetic Counseling Program - medicine.umich.edu

Services We Offer

Services we offer include:

Learn More About Our Services

A genetics consult starts with a phone call from a genetic counseling assistant. The assistant will gather information about the reason for the visit, obtain a detailed history of any problems in the family (which is called a pedigree) and possibly request medical records from other providers or hospitals. Sometimes, the assistant may need sensitive information. During this first contact, if you do not want to come for a full visit or have concerns about sharing sensitive information, please let us know.

The first appointment will take about two hours.If the person who is referred is a child, they MUST come to the visit. Plan to arrive at least 30 minutes before your appointment time to allow ample time to get registered, complete forms and have measurements taken (height, weight, blood pressure).

You will meet with several healthcare providers at this visit. This will include a genetic counselor, a genetic nurse practitioner or genetics physician, and possibly a metabolic dietician.

A consult with genetics is more than having genetic testing. It includes a full assessment that consists of taking a detailed history, reviewing outside medical records and performing a complete exam. We will discuss possible conditions, provide genetic counseling and review what may be needed to establish a diagnosis. A decision about whether testing is required, and what kind of tests should be performed, will be discussed at the first visit.

In most cases, testing will not be done at that time. If testing is recommended, we will work with your insurance to get prior authorization and let you know when to return for testing.

A return visit with the nurse practitioner, geneticist or genetic counselor is often needed when test results are available. Our team will go over what the results mean and discuss any next steps. Genetic counseling will be provided at every step to ensure you understand what the results mean for the patient and the family. Finally, any needed additional tests will be ordered, and a care plan with specific treatments, if available, will be made.

Clinical services are supported partly by the Ohio Department of Health as a Regional Genetics Center of the State of Ohio, Region IV.

Kim L. McBride, MD, MS, is Division Chief of Genetic and Genomic Medicine at Nationwide Children's Hospital.

Dennis W. Bartholomew, MD, is Section Chief of Genetic and Genomic Medicine and Director of the Biochemical Genetics Laboratory in the Department of Laboratory Medicine at Nationwide Childrens Hospital and a Clinical Professor of Pediatrics at The Ohio State University College of Medicine.

Genetics ClinicTower Building, 4th Floor, Suite D700 Children's DriveColumbus, OH 43205(614) 722-3535FAX (614) 722-3546Metabolic ClinicTower Building, 4th Floor, Suite D700 Childrens DriveColumbus, OH 43205(614) 722-3543FAX (614) 722-3546Dublin Genetics ClinicDublin Medical Office Building5665 Venture DriveDublin, OH 43017(614) 722-3535FAX (614) 722-3546Tuesdays all day

Westerville Genetics ClinicClose To Home Center on N. Cleveland AvenueWesterville, OH 43082(614) 722-3535FAX (614) 722-3546Mondays 12:30 pm 5:00pm

Athens Outreach278 W. Union StreetAthens, OH 45701To schedule, call: (614) 592-4431FAX (614) 594-9929Held bimonthly on a Wednesday

Marietta OutreachMarietta City Health Department304 Putnam StreetMarietta, OH 45750To schedule, call: (740) 373-0611FAX (740) 376-2008Held bimonthly on a Wednesday

Waverly OutreachPike County General Health District14050 US23 NWaverly, Ohio 45690To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Office Phone: (740) 947-7721Office Fax (740) 947-1109Held bimonthly on a Wednesday

Zanesville OutreachMuskingham Valley Health Care719 Adair AvenueZanesville, Ohio 43701To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Held bimonthly on a Wednesday

22q CenterNationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6373

Complex Epilepsy Clinic (Epilepsy Center)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000

Cleft Lip and Palate CenterNationwide Childrens Hospital700 Children's DriveSuite T5EColumbus, Ohio 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6366Tues. 12:30 pm 5 pm

Cystic Fibrosis ClinicOutpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205Phone: (614) 722-4766Fax: (614) 722-4755Tues PM, Wed PM, and Thurs PM

Down Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050

Muscular Dystrophy Association(MDA)/Spinal Muscular Atrophy (SMA) ClinicOutpatient Care Center, 1st Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-2203Wednesdays

Myelomeningocele Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050Friday AM

Prader-Willi Syndrome Clinic (Endocrinology)Outpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-44252nd Friday of the month

Williams Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-40502nd Tuesday of the month

The mission of the Center for Gene Therapy is to investigate and employ the use of gene- and cell-based therapeutics for prevention and treatment of human diseases.

The Center for Cardiovascular Research conducts innovative research leading to improved therapies and outcomes for pediatric cardiovascular diseases and promotes cardiovascular health in adults.

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Genetic and Genomic Medicine - nationwidechildrens.org