StemCell Therapy

Maverick Coltrin seemed like any other newborn when he first came home from the hospital, wearing his beanie cap with bear ears and blue-and-gray onesie and following the typical around-the-clock cycle of sleeping and breastfeeding. But within a couple of days, his parents noticed something was off. At 6 days old, Maverick completely stopped feeding. His arms and legs would stiffen and then release, the spasms punctuated by his cries.

His parents rushed him to Rady Childrens Hospital in San Diego, where EEG monitors recorded that he was having as many as 30 seizures an hour. Doctors scrambled to find the cause. Anti-seizure medicines didnt work, so he was sedated to stop the damage to his brain. His organs started to fail, and his skin turned a dusky blue. His mother, Kara Coltrin, walked into his empty nursery at home and cried.

So when doctors from Radys Institute for Genomic Medicine asked for permission to sequence Mavericks genome as part of a clinical trial of ultra-rapid sequencing for newborns who are critically ill from an unknown cause, Mavericks parents didnt hesitate. The doctors cautioned that they couldnt guarantee that they would pinpoint a genetic disorder or, if they did, that it could be treated. They gave the standard caveat about genetic testingthat identifying a genetic disorder could affect Mavericks eligibility for life insurance someday. But even if the sequencing didnt help him, his participation would contribute to a study that could benefit other babies. Obviously, the pros outweighed the cons manyfold, his mother says. We just wanted his pain to stop.

Within 36 hours, the Coltrins had an answer: Maverick has pyridoxine-dependent epilepsy, caused by a rare mutation of the ALDH7A1 gene, which codes for the enzyme antiquitin. By giving him high doses of vitamin B6 and controlling a couple of amino acids in his diet, doctors stopped the seizures. Maverick, now 2 years old, runs around like a normal, rambunctious toddler. He has hit all his developmental milestones, although they have been somewhat delayed. He hasnt had a seizure since his treatment began. Every once in a while, I think back on him being dusky blue and super skinny and hooked up to all these tubes, says Kara Coltrin. I look at him and its hard to believe that happened to him. People who see him on a normal basis would never know he was ever sick.

The technology that saved Mavericks life stretched the limits of bioinformatics, returning results far sooner than is typical for genetic testing. Rapid sequencing typically takes about seven days for a preliminary diagnosis, while Rady completes ultra-rapid sequencing in three days or less. (In 2018, Rady set a Guinness World Record by sequencing a babys genome in 20 hours and 10 minutes.)

But now ultra-rapid sequencing is moving from an investigational tool to a standard of care. Blue Shield of California is the first insurer to cover rapid and ultra-rapid sequencing of babies and children who have life-threatening and unexplained medical conditions. Since the new policy began in July 2019, 28 babies or children in California have received the testing through Blue Shield, which is just beginning to promote the new coverage.

Blue Shield expects that 250 to 500 newborns will be eligible for the whole genome sequencing each year, which represents about 10 percent of their insured babies treated in neonatal intensive care units in California. Company executive vice president Terry Gilliland said he will encourage other Blue Cross and Blue Shield plans around the country to adopt a similar policy. When you think about all the pain and suffering families go through with sick babies, this is going to be an enormous benefit, he says.

Continued here:
Ultra-Fast Genome Sequencing Could Save the Lives of Newborns - WIRED

EONE-DIAGNOMICS Genome Center (EDGC) said Thursday that its global network would go into full operation to respond to requests for supply contracts and export of its new coronavirus diagnosis test kit.

EDGC is a genetic precision medicine company manufacturing molecular diagnostics kits through its subsidiary, Solgent. The company is negotiating with many countries for the export of several million test kits of COVID-19.

The global demands for diagnostic kit exploded after the World Health Organization declared the current situation as a pandemic, the sixth and highest of an alert level on Wednesday. COVID-19 is WHOs third pandemic, following the Hong Kong flu in 1968, and the swine flu in 2009.

Solgent acquired approval for the urgent of its test kit from the Korea Centers for Disease Control and Prevention on Feb. 27 and won the nod of Conformite Europeen (CE) certification for two of its products the following day. The company is operating an emergent manufacturing system to deal with surging demand

EDGC is negotiating with various countries, including the United States, Australia, Japan, China, Hong Kong, Philippines, Singapore, Vietnam, Malaysia, Bangladesh, the United Arab Emirates, Kuwait, Turkey, Kazakhstan, Germany, the United Kingdom, and Estonia.

Among the four local companies that won urgent use approval from KCDC, Solgent is the only one that makes COVID-19 diagnosis kit with self-developed raw material.

The company said it is producing the test kits by grafting its technology and know-how to its quality management, proven by ISO 9001 and ISO 13485 international certifications as well as Korea Good Manufacturing Practice.

shim531@docdocdoc.co.kr

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EDGC goes all out for global supply of COVID-19 test kit - Korea Biomedical Review

Growing up on a farm near the small community in of Fordyce in Northeast Nebraska, David Steffen dreamed of one day becoming a country vet.

His family raised cows, sows and broilers, and he got to know the country veterinarians who tended to the livestock of his family and his neighbors. Their days seemed interesting and varied, Steffen said. Veterinarians helped both animals and the people who cared for them. All of these things appealed to Steffen.

He attended college at the University of Nebraska-Lincoln, where he studied animal science. After graduation, he went on to Iowa State University, where he got his DVM.

For a few years, he did become a country vet. But his wife, whose expertise was in computers, had a difficult time finding a job, and Steffen began looking for a position someplace where she could put her degree to work, too. He and his wife moved to Manhattan, Kan., where he began work on a doctoral degree at Kansas State University. This put him on track for an academic career, with a stop at North Dakota State University before he returned to Nebraska.

Today, he provides leadership in diagnostic pathology and as the quality control section head of the veterinary diagnostic center. And recently, he received the highest honor in the field of veterinary diagnostics the 2019 Dr. Edward P. Pope Memorial Award, presented by the American Association of Veterinary Laboratory Diagnosticians.

The award was a huge honor and came as somewhat of a surprise to Steffen, whose favorite part of the job remains helping people.

On a recent morning in his office in the Veterinary Diagnostic Center, he looked at slides from feeder lambs that were succumbing to a mystery affliction, as well as from a Scottish terrier with a terrible looking liver. Steffen finds it rewarding to figure out a diagnosis for a livestock producer whose livelihood is affected by disease, or for a pet owner who wants to know why their pet is sick.

It is a blessing to work using scientific knowledge to help others, Steffen said in a story about the award in the Journal of Veterinary Diagnostic Investigation. Every day I am provided the opportunity to develop meaningful, productive relationships with clients and scientists as we partner to improve the economic vitality of animal agriculture, the emotional health of pet owners, and the general health of animal populations and all people.

No two days are quite alike, and Steffen enjoys that, too.

You get to see all kinds of weird, interesting stuff, he said. You get to be a detective.

One particularly interesting mystery he encountered was a fatal type of dwarfism that showed up in several different breeds of calves. Steffen was able to pinpoint a genetic cause for the disease, which ultimately allowed for development of a test for breeders. Over his career, Steffen was able to identify seven different genetic disorders all of which led to the development of tests that livestock producers can use to determine whether their animals are afflicted.

With genomics now, we can go from recognizing a disease to having a test for it within a year, he said.

Throughout his career, he has dedicated time and expertise to advance animal health and veterinary pathology at state and national levels, serving on the Nebraska Poultry Health Committee, the Nebraska State Lab Response Network, and the Johnes Disease Committee. He has been a member of the American association of Veterinary Laboratory Diagnostics since 1996, over the years serving as both vice president and president. He also served as an associate editor for the Journal of Veterinary Diagnostic Investigation. He has author or co-authored more than 60 peer-reviewed publications on topics including diagnostics, comparative medical sciences and many other issues and received numerous other awards. He also served as an undergraduate adviser for more than a decade, and has kept in contact with many of his old students.

Dave has made many significant contributions to animal health, livestock management and veterinary pathology, said Ron Yoder, associate vice chancellor for the Institute of Agriculture and Natural Resources at the University of Nebraska-Lincoln. We highly value his work here at the university, as do livestock producers across Nebraska and the country.

Steffen didnt imagine that his plan to be a country vet would have led him down the path it did. But the things that drew him into vet medicine in the first place the variety, the opportunity to meet people and to help them have remained central throughout his career. Hes more likely, though, to do so from his office than on a farm like the one where he grew up.

My happy place is here at my microscope, he said.

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Veterinary Medical and Biomedical Sciences Professor David Steffen honored with top industry award - Fence Post

The gene-editing revolution is already here, and these stocks will help you capitalize on the movement.

Gene-editing therapies allow you to remove cells from the body, modify them and reintroduce them. With this technique, theres hope for a cure for cancer, blood disorders, blindness, AIDS, cystic fibrosis, muscular dystrophy, Huntingtons disease and a host of other diseases.

For example, gene-editing has already been used to eliminate HIV in mice.

According to the National Institute on Drug Abuse, HIV-1 could be eliminated in mice using a combination of two antiviral technologies long-acting viral reservoir-targeted antiretroviral therapy and CRISPR/Cas-9 gene editing.

Doctors are even attempting to cure blindness after hacking a patients genes.

A patient recently had the procedure done at the Casey Eye Institute at Oregon Health & Science University for an inherited form of blindness.

We literally have the potential to take people who are essentially blind and make them see, said Charles Albright, chief scientific officer at Editas Medicine. We think it could open up a whole new set of medicines to go in and change your DNA.

If the procedure is found to be a success, doctors plan on testing it on more children and adults. Success for one company could also create a sizable opportunity in the sector for related stocks as well.

Source: Catalin Rusnac/ShutterStock.com

CRISPR Therapeutics (NASDAQ:CRSP) is one of the top names in the gene-editing market with nine drug candidates.

One candidate is CTX001, a drug that targets sickle cell and transfusion-dependent beta-thalassemia (TBT). With both, patients have poorly formed red blood cells that just cant delivery oxygen throughout the body well. In Nov. 2019, CTX001 successfully helped to eliminate symptoms in a patient with TBT, and another with sickle cell.

Overall, while still very early, the results provide the first suggestion of curative potential for this cutting-edge technology in such genetic diseases, and with potential for further safety refinement of Crispr/Cas9 administration, could suggest broad long-term potential of the many early-stage gene editing therapeutic tools VRTX has accumulated, RBC Capital Markets Brian Abrahams wrote.

Other candidates (CTX110, CTX120, CTX130) are also candidates for a cancer treatment known as chimeric antigen receptor T cell (CAR-T) therapy.

Source: vxhal/ShutterStock.com

Editas Medicine (NASDAQ:EDIT) along with Allergan (NYSE:AGN) just treated a blind patient with EDIT-101 as part of a Brilliance phase clinical trial for the treatment of Leber congenital amaurosis (LCA). With this study, its the first time a patients genes are being modified in the body itself, which is known as in vivo treatment.

Editas is also working on a sickle-cell disease and transfusion-dependent beta-thalassemia (TDT) drug, EDIT-301. EDiT-102 is being developed for Usher Syndrome 2a, a genetic condition characterized by hearing loss and vision loss that begins in adolescence or adulthood.

Source: CI Photos/ShutterStock.com

Intellia Therapeutics (NASDAQ:NTLA) is also working on a sickle-cell disease drug. Its also working on NTLA-5001, a drug that could help treat acute myeloid leukemia (AML). This is a rare type of cancer found in the bone marrow, which leads to the production of abnormal red and white blood cells.

In addition, the company is working on NTLA-2001 for transthyretin amyloidosis, a rare condition characterized by buildups of protein deposits called amyloids throughout the body, which can lead to the loss of sensation in extremities, and in internal organs.

Better, according to the company, In 2019, we advanced our full-spectrum strategy, guiding both ourin vivoandex vivo lead programs toward the clinic. We also continued to build on our genome editing and delivery capabilities to enable a rapid succession of candidates, said Intellia President and Chief Executive Officer, John Leonard, M.D., adding:

We are off to a productive start in 2020. We announced the nomination of NTLA-5001, a WT1-directed TCR-T cell therapy for the treatment of AML, and plan to select our third development candidate in the first half of this year, which will be for the treatment of HAE. In addition, in the second half of the year, we expect to begin dosing ATTR patients with NTLA-2001, a potential single-course treatment for ATTR patients. This is anticipated to be the first-ever systemically delivered CRISPR/Cas9-based therapy to enter the clinic, representing an important milestone in our mission to deliver potentially curative therapies from our proprietary modular platform.

Ian Cooper, an InvestorPlace.com contributor, has been analyzing stocks and options for web-based advisories since 1999. As of this writing, Ian Cooper did not hold a position in any of the aforementioned securities.

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The Top 3 Gene-Editing Stocks to Own in 2020 - Investorplace.com

An assistant professor of psychology at Marietta College says his contract isnt being renewed because of what hes said and was alleged to have said about differences between ethnic groups.

Many academics believe that race is mere social construct -- that there is no meaning behind being black, white or anything else, beyond what society assigns to it. Others say that that is mere orthodoxy and that race is real; this group often points to research demonstrating group-based differences in complex traits such as intelligence.

Scientists at the cutting edge of studying race and complex traits, meanwhile, say that these traits are always a mix between genetics and environment. And as of now, these experts add, its impossible to tell in any genuine way just what the mix is, because babies cant be raised exactly the same way over two generations, as such experiments would require.

Bo Winegard falls in the middle camp and believes that purposely not talking about race-based differences is disingenuous and dangerous. The "rich, variegated tapestry of humanity" and its evolution have long interested him and ought to be among the truths that academics pursue, he said in a recent interview. Otherwise, he added, "literal racists" will fill the information void.

I do think theres an informational embargo on human population variation and certainly on race and IQ, he said. People have opinions, and they dont want those to get out publicly.

Whatever you think of Winegards ideas, he said in a recent essay in the conservative academic publication Quillette, you should care that hes effectively being fired for them.

If it can happen to me, then it can happen to any academic who challenges the prevailing views of their discipline, he wrote. You may disagree with everything I believe, say, and write, but it is in everyones interests that you support my freedom to believe, say and write it.

Trouble Begins

Winegard, who is in his second year at Marietta and is scheduled to leave at the end of the academic year, says the trouble started in October. That's when he was invited to address the University of Alabamas Evolution Working Group, which is affiliated with the universitys evolution studies program. Both parties agreed that Winegard would talk about population variation, or, in his words, the hypothesis that human biological differences are at least partially produced by different environments selecting for different physical and psychological traits in their populations over time.

The idea was to link the theory with natural selection, in line with a recent article Winegard co-wrote for Personality and Individual Differences. The article, called "Dodging Darwin: Race, Evolution and the Hereditarian Hypothesis," says, "Like most hereditarians (those who believe it likely that genes contribute to differences in psychological traits among human populations), we do not believe there is decisive evidence about the causes of differences in cognitive ability." Yet the "partial genetic hypothesis is most consistent with the Darwinian research tradition."

One class visit with students went well, Winegard recalled in Quillette. Then he received a number of texts from a campus host expressing concern about Winegards entry on the website RationalWiki. The website, like Wikipedia, is edited by volunteers, but is dedicated to debunking what it sees as junk science. And Winegard, according to RationalWiki, is guilty of writing racist bullshit for the right-wing online magazine Quillette.

Winegard told his hosts that he disagreed with the characterization. He has previously argued, for example, that racism isnt wrong because there arent races; it is wrong because it violates basic human decency and modern moral ideals.

This, of course, contradicts a broad literature asserting that race is a social construct, not a biological one, but it doesnt endorse racism. As Winegard said in the same co-written article, In fact, pinning a message of tolerance to the claim that all humans are essentially the same underneath the skin is dangerous. It suggests that if there were real differences, racism would be justified.

Despite the texts, Winegards main talk at Alabama went on as scheduled, followed by what he described as a rowdy question-and-answer period. Someone yelled that he was a racist, and another accused him of promoting phrenology, a discredited pseudoscience having to do with skull shape.

But Winegard said via telephone that that he never spoke about phrenology or on race and IQ at Alabama. The most controversial thing he said was that psychology may someday, in the aggregate, provide some explanation as to why East Asian societies tend toward collectivism, he added.

One of his slides, however, did say that groups may vary on socially significant traits (on average) such as intelligence, agreeableness, athleticism, cooperativeness [and] criminality.

Alabamas student newspaper published an article on the talk, vaguely linking the subject matter to eugenics, or reproduction to promote certain heritable traits. It also published an apology from the group that hosted him.

Winegard said this week that he never mentioned eugenics, and that he finds things such as forced sterilization morally repugnant. He didn't preclude having mentioned embryo selection once or twice on Twitter, he said, but he's never made a sustained argument.

Back at Marietta, Winegard was summoned to a meeting with his president and provost to discuss the article. While they werent pleased, Winegard wrote in Quillette, they told [him] to be more strategic in my navigation of such a sensitive topic. I agreed that I would try.

Months later, someone began emailing Winegards department and administration about things hes written and said on Twitter. One tweet, in particular, read, The greatest challenge to affluent societies is dealing openly, honestly, and humanely with biological (genetic) inequality. If we dont meet this challenge, I suspect our countries will be torn apart from the inside like a tree destroyed by parasites.

At a second, consequent meeting with his supervisors, Winegard explained (as he recapped in Quillette) that his tweet was not about groups, but rather about individual genetic differences, and the need to create a humane society for everyone, not just for the cognitive elite and hyper-educated (a theme I discuss often). The simile about parasites was a reference to political conflict and not a reference to some group of humans or another, he also said.

Winegard recalled his bosses expressing disappointment in me and particular dismay about the tweet I had deleted, which they said evoked anti-black and anti-Semitic tropes. He agreed and apologized but said he would continue to pursue potentially controversial research topics.

Termination

Termination never came up, even after Winegard published a co-written article on human population variation -- until two weeks ago.

My boss informed me, without any warning, that the college was not renewing my contract, he wrote in Quillette. I dont know if my paper was the proximate cause of my firing, but in the light of the foregoing weeks tumult, it was plausibly the last straw.

Did Winegard see it coming? I had worried vaguely about such an eventuality, but didnt really think it would happen, he wrote. I naively assumed that the norms of academic freedom would prevail. They did not.

Winegard told Inside Higher Ed that hes had strong teaching evaluations and high research productivity since hes been at Marietta. He sees no apparent reason for his effective termination, apart from the controversy surrounding what he has said and, more to the point, is alleged to have said.

In response to his Quillette article, some have argued that one should wait until tenure to pursue certain topics. But Winegard reiterated that he, perhaps navely, took academic freedom seriously. Beyond that, he said, if academics follow "pragmatic" advice about waiting until tenure to discuss controversial issues, it means waiting 10 or more years, through graduate school and the tenure track.

Im perplexed by the response, he said of Mariettas actions. The best response would have been to come out with a bold, affirmative statement for academic freedom, even if the college distanced itself from Winegards views in doing so.

Otherwise, he said, Youre incentivizing this trollish behavior. Trollish here refers to those Winegard says emailed his institution about him anonymously.

Marietta declined comment, saying Winegards case was a private personnel issue.

Relevant, widely followed American Association of University Professors policy says that even professors on probationary appointments should enjoy the same academic freedom as those with tenure, even if they don't have the same due process protections. Winegard said he's unaware of any paths to appeal, but AAUP policy also holds that a faculty committee should evaluate any concerns about non-reappointment related to a possible violation of academic freedom.

Winegard's department chair did not respond to a request for comment. Marietta's Faculty Council chair also did not respond to questions about the case.

Facts and Feelings

Attempts to link cognition to race have for decades happened mostly in academe's fringes. That's because it's either dog-whistle racist junk science or there is a conspiracy of silence surrounding it, depending on what you believe. In 1994, Richard Herrnstein and Charles Murray's The Bell Curve: Intelligence and Class Structure in American Life was immediately controversial, stirring concerns about lack of peer review and whether it represented mainstream science.

Race-based science debates don't just happen in psychology. In January, for example, Philosophical Psychology faced a boycott for publishing an article in defense of race-based research on intelligence. The gist of that article, written by Nathan Cofnas, a Ph.D. candidate in philosophy at the University of Oxford, was that when advances in science reveal genetic variants underlying individual differences in intelligence, we wont be ready for it.

One of the main criticisms of Cofnas's piece was that it speculated that these breakthroughs are close. They are not. So postulating about them is, in a sense, pseudoscience, critics maintain.

Cofnas said at the time that those "who argue that we should wait for the genetics and neuroscience of intelligence to become more advanced before we attempt to study this issue often claim that, in the meantime, we should accept the environmental explanation for the purpose of policy making" and more. But that is a "political, not a scientific, position."

Journalist Angela Saini, author of the 2019 book Superior: The Return of Race Science (which Winegard has reviewed), said that her research demonstrates there is simply "no conspiracy against talking about race and IQ in academia, largely because this matter was settled 70 years ago -- and reinforced by genetics since -- by the universal understanding that race is a social construct."

It's "impossible to say that any differences in attainment we may see between socially defined groups must be biological in origin," Saini added. "Scientists are overwhelmingly in consensus on this."

That a "few academics like to claim otherwise," she said, "in particular, a small number of social scientists on the margins of respectable academia, does nothing to undermine the scientific facts. The facts, Im afraid, dont care about their feelings."

Intelligence researcher Richard Haier, professor emeritus in the pediatric neurology division at the School of Medicine at the University of California, Irvine, said that the questions Winegard is working on are controversial and emotional -- and well within the bounds of reasonable debate.

What happened at Marietta is, therefore, an apparent violation of academic freedom, Haier said. I dont know all the details, but I do know that it is very hard to defend academic freedom for issues that are not just controversial but also extremely emotional. And a lot of people in academia are happy to say that they support academic freedom but there are many examples of occurrences that appear to violate academic freedom, and the local academic community has not stood up for academic freedom.

Haier added, The hard thing about science is to go where the data take you. Without tenure and even with tenure, its becoming increasingly difficult to address controversial ideas, where some points of view do not acknowledge the legitimacy of other points of view, and therefore shut down discussion. Thats not how science works.

Lee Jussim, distinguished professor of psychology at Rutgers University and co-author of a recent paper on political bias in social science research, said that the topic of race and IQ "is poison." Further, he said, "I see no reason to believe the methods are capable of answering the question of how much race differences in intelligence are genetic versus environmental versus some combination.

That doesn't mean that Winegard or anyone else should be fired for trying to do so, however, Jussim said. Of course he has a right to pursue the line of inquiry.

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Assistant professor says he's been fired because he dared to talk about human population variation - Inside Higher Ed

Parsippany, NJ, March 11, 2020 (GLOBE NEWSWIRE) -- Interpace Diagnostics, a subsidiary of Interpace Biosciences (NASDAQ: IDXG) announced today that it has entered into a contract with Blue Cross Blue Shield of Massachusetts. While terms of this Agreement are not disclosed, Interpace is an in-network lab with Blue Cross Blue Shield of Massachusetts for all product lines.

Interpace continues to expand in-network agreements and medical coverage for its services with leading National and Regional health plans, while maintaining Medicare coverage through Novitas Solutions.

According to Jack Stover, CEO of Interpace, This contract with Blue Cross Blue Shield of Massachusetts continues our trend of establishing improved reimbursement through participation as an in-network provider. Im pleased to announce that this is the first contract secured by our new VP of Managed Care and Payer Relations, Jeff Salzman.

AboutThyroid Nodules, ThyGeNEXT and ThyraMIR Testing

According to theAmerican Thyroid Association, approximately 20% of the 525,000 thyroid fine needle aspirations (FNAs) performed on an annual basis in the U.S. are indeterminate for malignancy based on standard cytological evaluation, and thus are candidates for ThyGenX and ThyraMIR.

ThyGenX and ThyraMIR reflex testing yields high predictive value in determining the presence and absence of cancer in thyroid nodules. The combination of both tests can improve risk stratification and surgical decision-making when standard cytopathology does not provide a clear diagnosis for the presence of cancer.

ThyGenX utilizes state-of-the-art next-generation sequencing (NGS) to identify more than 100 genetic alterations associated with papillary and follicular thyroid carcinomas, the two most common forms of thyroid cancer. ThyraMIR is the first microRNA gene expression classifier. MicroRNAs are small, non-coding RNAs that bind to messenger RNA and regulate expression of genes involved in human cancers, including every subtype of thyroid cancer. ThyraMIR measures the expression of 10 microRNAs. Both ThyGenX and ThyraMIR are covered by both Medicare and Commercial insurers.

AboutInterpace Biosciences

Interpace Biosciences is a leader in enabling personalized medicine, offering specialized services along the therapeutic value chain from early diagnosis and prognostic planning to targeted therapeutic applications.

The Interpace Diagnostics division provides clinically useful molecular diagnostic tests, bioinformatics and pathology services for evaluating risk of cancer by leveraging the latest technology in personalized medicine for improved patient diagnosis and management. Interpace has four commercialized molecular tests and one test in a clinical evaluation process (CEP): PancraGEN for the diagnosis and prognosis of pancreatic cancer from pancreatic cysts; ThyGeNEXT for the diagnosis of thyroid cancer from thyroid nodules utilizing a next generation sequencing assay; ThyraMIR for the diagnosis of thyroid cancer from thyroid nodules utilizing a proprietary gene expression assay; and RespriDX that differentiates lung cancer of primary vs. metastatic origin. In addition, BarreGEN for Barretts Esophagus, is currently in a clinical evaluation program whereby we gather information from physicians using BarreGEN to assist us in positioning the product for full launch, partnering and potentially supporting reimbursement with payers.

The Interpace Pharma Solutions division provides pharmacogenomics testing, genotyping, biorepository and other customized services to the pharmaceutical and biotech industries. The Pharma Solutions Business also advances personalized medicine by partnering with pharmaceutical, academic, and technology leaders to effectively integrate pharmacogenomics into their drug development and clinical trial programs with the goals of delivering safer, more effective drugs to market more quickly, and improving patient care.

For more information, please visit Interpace Biosciences website at http://www.interpace.com.

Forward Looking Statements

This press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, Section 21E of the Securities Exchange Act of 1934 and the Private Securities Litigation Reform Act of 1995, relating to the Company's future financial and operating performance. The Company has attempted to identify forward looking statements by terminology including "believes," "estimates," "anticipates," "expects," "plans," "projects," "intends," "potential," "may," "could," "might," "will," "should," "approximately" or other words that convey uncertainty of future events or outcomes to identify these forward-looking statements. These statements are based on current expectations, assumptions and uncertainties involving judgments about, among other things, future economic, competitive and market conditions and future business decisions, all of which are difficult or impossible to predict accurately and many of which are beyond the Company's control. These statements also involve known and unknown risks, uncertainties and other factors that may cause the Company's actual results to be materially different from those expressed or implied by any forward-looking statement. Additionally, all forward-looking statements are subject to the risk factors detailed from time to time in the Company's filings with the SEC, including without limitation, the Annual Report on Form 10-K and the companys Quarterly Reports filed with the SEC. Because of these and other risks, uncertainties and assumptions, undue reliance should not be placed on these forward-looking statements. In addition, these statements speak only as of the date of this press release and, except as may be required by law, the Company undertakes no obligation to revise or update publicly any forward-looking statements for any reason.

CONTACTS:

Interpace DiagnosticsInvestor Relations:Joe Green(646) 653-7030jgreen@edisongroup.comEdison Group

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Interpace Diagnostics Issues Update Regarding Announced Contract with BCBS of Massachusetts - GlobeNewswire

Updated: May 25, 2018:

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Excerpt from:
Collaborative Review of Scientific Evidence Announced By FDA - JD Supra

Henry Ford Health System plans to rapidly expand its life-extending precision medicine program in Detroit after the Jeffries family pledged $25 million to create a specialized center.

The $25 million donation, provided by developer Chris Jeffries and his wife, Lisa, is the largest single gift from individuals in Henry Ford's 105-year history and one of the largest in the nation for a precision medicine program, Henry Ford officials said.

"We are incredibly grateful to Lisa and Chris Jeffries for their generosity," Wright Lassiter III, president and CEO of Henry Ford Health System, said in a statement. "We are experiencing a momentous era in medicine, a radical shift from the traditional approach to cancer care. This gift will help us consolidate and advance our collective efforts to create unprecedented access to advanced, highly personalized treatments for our patients and members."

But in the past three months, precision medicine or precision health, as neurosurgeon Steven Kalkanis, M.D., CEO of the Henry Ford Medical Group, likes to call it is now available for a whole host of new treatments besides those for cancer.

"Hot off the press. There have been animal studies and now clinical studies, only in the last several months, where precision health is ready for prime time and for human beings," said Kalkanis, who also is Henry Ford's chief academic officer.

Over the past decade, precision medicine has been evolving as a new type of medical care that initially focused on treating patients with various forms of cancer, including brain, lung, colon and pancreatic. It works like this: By analyzing patients' own molecular profile and the genetic mutations of their tumors, doctors are able to use the information to develop personalized treatments that could be more effective than standard care.

Doctors are now using precision medicine approaches to treat many other conditions, including cystic fibrosis, asthma, depression, heart disease, autoimmune diseases and multiple sclerosis, Kalkanis said.

"We have a whole era opening up to treat a host of other chronic diseases, using precision medicine to identify patients' molecular profiles, but potentially using existing drugs for everything from asthma to high blood pressure to depression," Kalkanis said. "However, the majority (of precision medicine) is still about designing a tailored drug regimen for individual patients."

Kalkanis said patients with some chronic conditions will one day soon be able to take a blood test and have their molecular profile entered into a database of existing drugs that may be able to match to an existing drug or to new ones being created in real time.

"We have found, in one of our clinical trials, that a (patient had a) rare type of brain cancer with a mutation impacting glucose levels. We used an existing diabetes drug and the patient went into remission," Kalkanis said.

Why the Jeffries donated

Chris Jeffries' father, Gerald was diagnosed with a highly malignant brain tumor in 2001.

Treated initially by neuro-oncologist Tom Mikkelsen and later Kalkanis and the Hermelin Brain Tumor Center team, Gerald was given only nine to 11 months to live, but using a precision medicine approach, he lived another five years until he died in December 2006.

"That meant so much to us. It's impossible to describe," Chris Jeffries said in a statement. Lisa Jeffries also lost her stepfather to cancer.

A native of Flint, Chris Jeffries is co-founder of Millennium Partners, a real estate development company that specializes in mixed-use, urban living and entertainment centers in Boston; San Francisco; Miami; Washington D.C.; Los Angeles; and New York.

Last year, the Jeffries donated $33 million to the University of Michigan Law School, where Chris was a 1974 graduate. The donation is earmarked for student support, including scholarships and other forms of financial aid, summer funding programs, and debt management. It was the largest private donation to the law school in its history, UM said.

Kalkanis said Gerald Jeffries was one of the first cohorts of patients in Henry Ford's personalized medicine program long before it was called precision medicine, in the early 2000s.

"He was enrolled in a clinical trial at Henry Ford 10 to 15 years ago and treated with a novel drug based on his unique cancer characteristics," Kalkanis said. "Because of that, he lived way beyond his life expectancy. The family was very supportive of our program and especially wanted to provide this same hope to others once they learned of the enhanced capability of precision medicine."

Since Gerald Jeffries was treated and Henry Ford developed its precision medicine approach, Kalkanis said there have been a number of patients who have outlived their prognoses. He said doctors can now give patients and families more hope than ever.

"We went through the precision medicine protocol, based on his own unique biomarkers and using a novel drug," he said. "Today these tests have become much more accessible. (For instance), a decade ago, it cost $5,000 (for testing). Now it costs several hundred for the tests" that can lead to the novel, personalized treatment.

Henry Ford's precision medicine program

For years, Henry Ford has been at the forefront of the precision medicine revolution, making world-class, targeted cancer treatments available at its national destination referral center, the Henry Ford Cancer Institute, officials said.

"By analyzing genetic and non-genetic factors, we can gain a better understanding of how a disease forms, progresses and can be treated in a specific patient," Mikkelsen, who is Henry Ford's medical director of the Precision Medicine Program and Clinical Trials Office, said in a statement.

"As of now, we can check for more than 500 genomic markers, which helps us understand the pattern of changes in a patient's tumor cells that influence how cancer grows and spreads," Mikkelsen said. "I'm confident this gift will lead to advancements that provide hope for patients with even the most complex diagnoses."

Kalkanis said the $25 million donation, which is expected to be received over the next several years, will enable Henry Ford to do a number of things.

"It takes investment to build out our biodepository with tissue samples, test them, look for biomarkers and see if (patients are) eligible for certain drugs," Kalkanis said. "We need to design our lab platform that is FDA-approved and recruit the best and brightest scientists and clinicians (specializing in) other cancer types."

Based on the current projection of about four to five chronic diseases and about 10 subspecialties that can be addressed by precision medicine, Kalkanis estimated Henry Ford will recruit two to three scientists and clinicians each year for the next few years.

"We are launching the search process for key researchers and working with the lab and pathology group for tests this calendar year," he said. "We should be up and running over the next year."

Adnan Munkarah, M.D., Henry Ford's executive vice president and chief clinical officer, said taking research in the lab and translating it to patient care is a standard process at Henry Ford.

"(It) is a critical element to help us treat many of the most challenging conditions our patients face," Munkarah said in a statement. "Translational research is bench-to-bedside, meaning it allows patients to benefit from discoveries in real time. That is an essential part of our history and commitment to medicine and academics not only offering the latest innovations in medicine, but also playing a leading role in their development."

Precision medicine is an approach to patient care that allows doctors to select treatments most likely to help patients based on a genetic understanding of their disease.

"The support of our donors is the fuel behind our clinical innovations and the breakthroughs that are improving people's lives," Mary Jane Vogt, Henry Ford's senior vice president and chief development officer, said in a statement. "It is remarkable to work with donors who believe in a better tomorrow and the power of a unified approach to medicine."

The Jeffrieses said they believe Henry Ford will achieve transformational advancements in cancer treatment using precision medicine and personalized treatments.

"The team at Henry Ford is second to none," said Chris Jeffries. "We believe this gift will lead to other families having more time together, as I had with my father. Defeating cancer requires a concerted effort from everyone and we hope to make as big an impact on that goal as possible."

Read more:
Henry Ford to expand precision medicine program with help of $25 million donation - ModernHealthcare.com

CHAPEL HILL Scientists at the UNC School of Medicine and colleagues created a new computational tool called H-MAGMA to study the genetic underpinnings of nine brain disorders, including the identification of new genes associated with each disorder.

The research,published inNature Neuroscience, revealed that genes associated with psychiatric disorders are typically expressed early in life, highlighting the likelihood of this early period of life as critical in the development of psychiatric illnesses. The researchers also discovered that neurodegenerative disorder-associated genes are expressed later in life. Lastly, the scientists linked these disorder-associated genes to specific brain cell types.

By using H-MAGMA, we were able to link non-coding variants to their target genes, a challenge that had previously limited scientists ability to derive biologically meaningful hypotheses from genome-wide association studies of brain disorders, said study senior authorHyejung Won, PhD, assistant professor of genetics at the UNC School of Medicine and member of the UNC Neuroscience Center. Additionally, we uncovered important biology underlying the genetics of brain disorders, and we think these molecular mechanisms could serve as potential targets for treatment.

Hyejung Won, PhD UNC photo)

Brain disorders such as schizophrenia and Alzheimers disease are among the most burdensome disorders worldwide. But there are few treatment options, largely due to our limited understanding of their genetics and neurobiological mechanisms. Genome-wide association studies (GWAS) have revolutionized our understanding of the genetic architecture related to many health conditions, including brain-related disorders. GWAS is a technique that allows researchers to compare genetic sequences of individuals with a particular trait such as a disorder to control subjects. Researchers do this by analyzing the genetic sequences of thousands of people.

To date, we know of hundreds of genomic regions associated with a persons risk of developing a disorder, Won said. However, understanding how those genetic variants impact health remained a challenge because the majority of the variants are located in regions of the genome that do not make proteins. They are called non-coding genetic variants. Thus, their specific roles have not been clearly defined.

Prior research suggested that while non-coding variants might not directly encode proteins, they can interact with and regulate gene expression. That is, these variants help regulate how genes create proteins, even though these variants do not directly lead to or code for the creation of proteins.

Given the importance of non-coding variants, and that they make up a large proportion of GWAS findings, we sought to link them to the genes they interact with, using a map of chromatin interaction in the human brain, Won said. Chromatin is the tightly packed structure of DNA and proteins inside cells, folded in the nucleus in a way to maintain normal human health.

Won and colleagues used this map to identify genes and biological principles underlying nine different brain disorders, including psychiatric conditions such as schizophrenia, autism, depression, and bipolar disorder; and neurodegenerative disorders such as Alzheimers, Parkinsons, amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS).

Using the computational tool H-MAGMA, Won and colleagues could link non-coding variants to their interacting genes the genes already implicated in previous GWAS findings.

Another important question in brain disorders is to identify cellular etiology the cells involved in the root cause of disease. This is especially critical as the brain is a complex organ with many different cell types that may act differently in response to treatment. In the attempt of finding critical cell types for each brain disorder, the researchers found that genes associated with psychiatric disorders are highly expressed in glutamatergic neurons, whereas genes associated with neurodegenerative disorders are highly expressed in glia, further demonstrating how the two disorder clusters diverge from each other.

Moreover, we classified biological processes central to the disorders, Won said. From this analysis, we found that the generation of new brain cells, transcriptional regulation, and immune response as being essential to many brain disorders.

Won and colleagues also generated a list of shared genes across psychiatric disorders to describe common biological principles that link psychiatric disorders.

Amongst the shared genes, we once again identified the brains early developmental process as being critical and upper layer neurons as being the fundamental cell-types involved, Won said We unveiled the molecular mechanism that underscores how one gene can affect two or more psychiatric diseases.

H-MAGMA is publicly available so that the tool can be widely applicable and available to the genetics and neuroscience community to help expand research, with the ultimate goal of helping people who suffer with brain-related conditions.

The National Institute of Mental Health, the Brain and Behavior Research Foundation, and the Simons Foundation Autism Research Initiative funded this research.

Other authors were Nancy Sey, Benxia Hu, Won Mah, Harper Fauni, Jessica McAfee, all from UNC-Chapel Hill, and Prashanth Rajarajan, Kristen Brennand, and Schahram Akbarian from Mount Sinai Health System.

(C) UNC-Chapel Hill

See the original post here:
New UNC computational tool boosts understanding of genetic disorders affecting the brain - WRAL Tech Wire

SAN FRANCISCO, March 10, 2020 /PRNewswire/ --Invitae Corporation(NYSE: NVTA), a leading medical genetics company, today announced it has entered into definitive agreements to acquire YouScript, a privately held clinical decision support and analytics platform, and Genelex, a privately held pharmacogenetic testing company, to bring best-in-class pharmacogenetic testing, and robust, integrated clinical decision support to Invitae. Pharmacogenetic testing evaluates genetic variations that can impact how an individual responds to prescription medication.

"Adding pharmacogenetics to Invitae's services enables us to offer greater value to our existing customers and helps us expand into new customer types and clinical areas," said Sean George, co-founder and chief executive officer of Invitae. "Despite its broad utility, the incorporation of pharmacogenetic information into routine medical care has been slow. We believe that Invitae's business model and technological capabilities, combined with an offering designed for ease of use in supporting clinical care, can accelerate the use of pharmacogenetic information. This is an exciting next step in our mission to bring comprehensive genetic information into mainstream medical care."

Pharmacogenetic variants with medical implications are very common. For example, a cross-sectional study of more than 7.7 million U.S. veterans published in 2019 found that 99% of individuals in the Veteran Health Administration system carry at least one actionable pharmacogenetic variant. Furthermore, over half of the individuals had been prescribed a drug for which deciding to use the drug or determining the proper dosage would be affected by relevant pharmacogenetic information.1 Routine pharmacogenetic testing can provide clinicians with information to improve treatment and reduce the possibility of adverse events, particularly for patients with complex medication regimens or co-existing conditions.

"Pharmacogenetic information becomes clinically actionable when the complex web of multifactor interactions, including drug-drug and drug-gene, is used to characterize risk and benefit," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Simply detecting pharmacogenetic variation is not nearly enough to make the information clinically useful. Combining Genelex testing with clinical decision support in the EMR using YouScript software enables clinicians to easily navigate this information when making prescription choices at the point of care."

YouScript offers an innovative clinical decision support tool for healthcare providers that can assist in patient medication management at the point of care. The software pairs a patient's pharmacogenetic profile with published drug and gene interaction information to assess the risk for adverse drug events and possible side effects. Clinicians receive information, alerts, and possible medication alternatives in real-time through a clear and concise interactive interface to help optimize medication choice to improve patient care. YouScript is integrated with major electronic medical record (EMR) systems, including Epic, Cerner, and Allscripts.

In addition to providing clinical support at the patient level, health systems can use YouScript at population scale to identify patient populations at highest risk for adverse events. The software identifies those patients who are most likely to benefit from pharmacogenetic testing based on their drug regimen. The utilization of YouScript's software, in combination with Genelex pharmacogenetic testing, has been shown to reduce adverse events, costs and hospital readmissions in peer-reviewed published studies.

"Our clinical decision support tool is focused on giving clinicians the most comprehensive, evidence-based information in an actionable, easy-to-use format. This enables the safest, most informed decision for their patient in real time, within the workflow," said Kristine Ashcraft, chief executive officer of YouScript. "Joining forces with Genelex and Invitae will allow us to help a larger number of clinicians use genetics not just for the few but as a routine practice for all their patients."

Genelex offers pharmacogenetic testing that analyzes the genes that are important for understanding variation in how people metabolize and respond differently to prescription medications. The testing process includes pharmacist review, patient- and clinician-facing reports, as well as access to clinical decision support for the treating provider.

"Accelerating the use of genetic information to inform treatment choices is essential for realizing the power of genetics in mainstream medicine," said Chris Howlett, chief executive officer of Genelex."The combination of Genelex's expertise in pharmacogenetics, YouScript's advanced clinical decision support and Invitae's expertise in delivering genetic information that is affordable and accessible at scale enables us to help more clinicians and their patients benefit from genetics-informed treatment choice."

Under the definitive agreements, Invitae will acquire YouScript for approximately $79.3 million, subject to certain adjustments, consisting of $25 million in cash and the remaining in Invitae common stock (based upon a trailing average trading price as of the agreement date), and Invitae will acquire Genelex for approximately $20.7 million in upfront shares of Invitae common stock (based upon a trailing average trading price as of the agreement date) plus additional shares of Invitae common stock in the event that certain milestones are achieved. The acquisitions are expected to close in the coming weeks, pending customary closing conditions. The acquisitions are not expected to materially change previously shared guidance on revenue and volume for 2020.

Conference Call and Webcast Details

Management will host a conference call and webcast today at 2:00 p.m. Pacific / 5:00 p.m. Eastern to discuss the acquisitions. The dial-in numbers for the conference call are (866) 393-4306 for domestic callers and (734) 385-2616 for international callers, and the reservation number for both is 4663118. Following prepared remarks, management will respond to questions from investors and analysts, subject to time limitations.

The live webcast of the call and slide deck may be accessed by visiting the investors section of the company's website atir.invitae.com. A replay of the webcast and conference call will be available shortly after the conclusion of the call and will be archived on the company's website.

About InvitaeInvitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website at invitae.com.

About YouScriptYouScript enables faster, more proactive personalized medication management to reduce avoidable adverse drug events. YouScript is a trusted partner to value-based healthcare organizations, providers, and payers who want to bend the healthcare cost curve with the power of precision medicine. Partners include Clover Health, Group Health of South-Central Wisconsin, Highmark BCBS, and TELUS Health. YouScript's technology synthesizes the evidence impacting drug response, including pharmacogenetic testing, to support doctors and pharmacists at the point of care. YouScript is the only clinically validated system that shows improved outcomes, reduced costs and high patient and provider satisfaction. YouScript is successfully integrated into the clinical workflow of Epic, Cerner, Allscripts, GraneRx and other leading healthcare technology providers. For more information about YouScript, please visit:www.youscript.com.

YouScript has not been reviewed or approved by the United States Food and Drug Administration and cannot be used to diagnose or treat any disease or other health condition.

About GenelexGenelex is one of the longest-standing laboratories in the United States, specializing in pharmacogenetics testing and was one of the first clinical laboratories to provide pharmacogenetic testing and interpretation as the creator of the patented, proprietary and powerful YouScript Personalized Prescribing System. Genelex pharmacogenetic tests reveal natural variations that determine how the body processes commonly prescribed medications.

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 the potential benefits of the proposed acquisitions; the expected timing of the closing of the proposed acquisitions; the capabilities and benefits of YouScript and/or Genelex technology; the company's ability to integrate and expand the use of YouScript and/or Genelex technology and the impact thereof; and the company's business strategy, and its beliefs regarding the ways in which the proposed acquisitions will contribute to that strategy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the parties' ability to satisfy the conditions precedent to the consummation of the proposed transactions, including the parties' ability to close the proposed acquisitions; the occurrence of any event that could give rise to the termination of one or both acquisition agreements; unanticipated difficulties or expenditures relating to the proposed transactions; the risk that expected benefits of the proposed transactions may not be achieved in a timely manner, or at all; the risk that the YouScript and/or Genelex technology may not be efficiently or successfully integrated into, or otherwise scale with, the company's platform; the company's history of losses; the company's ability to compete; the company's ability to manage growth effectively; the company's ability to use rapidly changing genetic data and technology to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-K for the year ended December 31 , 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Source: Invitae Corporation

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://invitae.com

Continued here:
Invitae to Acquire YouScript and Genelex to Make it Easier to Use Pharmacogenetic Information at the Point of Care - PRNewswire

Credit: Online Marketing on Unsplash.

When it comes to applying genomic sequencing in diagnostic medicine, increasing evidence is demonstrating that whole exome sequencing (WES) can sometimes fall short. This is a particular issue when analyzing large segments of DNA from patients and can adversely impact a physician's diagnosis.An alternative to WES is the utilization of a smaller, more targeted genetic test that analyzes a specific panel of genes known to be associated with a certain pathology. These tests are less of a financial burden on healthcare systems and patients and can offer highly accurate results. Targeted NGS is enabling this testing approach, and we're seeing increased adoption of NGS in the clinical diagnostics space.

But what barriers still exist to the full implementation of NGS, and how can we remove them? Technology Networks recently spoke with Luca Quagliata, Ph.D., Global Director of Medical Affairs for Thermo Fisher Scientific, to learn more.Molly Campbell (MC): How is genome sequencing currently utilized in the oncology diagnostics space? What are its limitations?Luca Quagliata (LQ): Sequencing of DNA and RNA is currently used in routine molecular testing for two purposes. Firstly, they are used with the aim of supporting a diagnostic decision, i.e. differential diagnosis (such as PIDGFA mutation status in gastrointestinal stromal cancer. More commonly, they are adopted to complement a pathology report by adding information related to a clinically relevant genomic variant (e.g. mutations in the EGFR gene) that are directly associated with any specific approved drug treatment (for example, BRAF inhibitors for V600E BRAF mutated melanoma patients).Some of the major limitations of genomic testing are related to quality of the starting material for testing (generally known as pre-analytic issues, e.g. tissue fixation), the ability of a given sequencing method to generate usable results (not every sequencing approach is born equal), the capability of interpreting the results (e.g. is the observed genomic variant a pathogenic alteration or is simply benign?) and finally the economic aspect. Who should pay for the test?MC: Why does WES commonly fail to adequately analyze large segments of DNA?LQ: As above mentioned, not all sequencing methods are born equal, WES can be performed using a variety of library preparation kits, possibly leading to substantially different results.1 Unfortunately, no universally accepted standard has been established for WES, especially for oncology applications.Generally, one of the most common issue is related to the sequencing depth, also known as coverage. High coverage allows to gain higher confidence in the generated results, as the genomic examined regions are analyzed multiple times, thus increasing the robustness of the data. However, high coverage comes at the cost of increasing sequencing price. Plus, even in the absence of any financial constraints, increasing coverage indefinitely is simply not possible due to technical limitations, i.e. the input material will define the maximal reachable coverage.

Furthermore, it is well established that, in certain situations, even pushing the coverage a 100-fold higher does not generate any tangible benefit in terms of data analysis output. Finally, a variety of alignment and calling algorithms can be deployed to identify large DNA segments rearrangements. Once again, no standard is strictly defined, thus the varying ability of different algorithms will greatly impact the final result. To conclude, while robust approaches are in place for single nucleotide variants (SNV) or multiple nucleotide variants (MNP), as well as insertions and deletions (INDEL), this is not the case when applying WES to study large DNA segments. Nowadays, microarray-based investigations are very popular for assessment of large genomic rearrangements.MC: Why is a targeted test more suitable in the diagnostics space?LQ: Targeted NGS is most commonly used for routine diagnostics because:

MC: NGS is becoming increasingly easier for patients to access and costs are rapidly declining. In your opinion, will we reach a stage where a genetic test is as common as, say, having a blood test when you visit your healthcare provider?LQ: While the price of NGS, meaning reagents related costs to perform the test, is undoubtedly going down, one should not forget that the largest fraction of NGS cost is generated by the human labor necessary to carry out the analysis. Thus, any technological approach that will reduce human intervention in the process will be the most effective in compressing the overall sequencing cost to enable true democratization of NGS.At Thermo Fisher Scientific, we recently made a significant step in this direction with the launch of the Ion Torrent Genexus System, the first research NGS solution that automates the entire specimen to report workflow in a single day with only two touch points.Having said that, there is no doubt that sequencing will eventually become as common as performing a classical blood check. The question is, rather, when will it happen?

In my opinion, that will largely depend not exclusively on the reduction of the overall NGS cost, but rather our ability to expand our understanding of the genomic variants clinical implications. As for now, only a limited fraction of variants can be clearly classified and associated with either a clinical condition or a drug treatment benefit. In my view, it is rather a matter of knowledge than merely a problem of costs. We use blood testing not only because it is easy and cheap, but because we can generate valuable and meaningful information through it.MC: The number of individuals undergoing direct-to-consumer genetic testing at home is on the rise. In your opinion, what impact is this having on the use of genetic testing in the clinical spaceLQ: Direct-to-consumer (DTC) genetic testing is an interesting recent phenomenon that in my view poses several questions, mainly regarding the quality of the results it provides. Several regulatory agencies have expressed concerns and are now acting with the aim of monitoring this market. In this initial and still immature phase of DTC, I strongly advocate for the implementation of a regulatory framework that should be considered not a barrier to wide genomic testing access but rather a safeguard.Should that framework be implemented, then DTC market expansion will have a positive effect on the use of genetic testing in the clinical space, as an audience of genetic-educated patients will also inevitably push physicians toward the adoption of genomics in medicine.

Should the DTC genetic market be given complete freedom, I am concerned that it would negatively impact genetic testing in the clinical space, as people might be easily convinced that managing this kind of data is simplistic, and thus the value of a controlled and professionally regulated testing approach will lose value. I think of this in relation to the "Dr Google self-medication" phenomenon.MC: What challenges still exist in the use of NGS in diagnostics?LQ: Overall NGS data generation and interpretation is still perceived as being extremely complex. Furthermore, while we are witnessing an increase in policy coverage for NGS testing, reimbursement remains a practical issue as well as NGS results being restricted to very specific indications. Finally, limited medical education and awareness regarding the value of genetic testing remains high in the healthcare community, with a substantial knowledge gap between physicians working at large academic centres and those working in the community setting. It will take a shared collective effort to remove the above-mentioned barriers to allow broad adoption of NGS in routine diagnostics. No single company, as large as it could be, can achieve such results.

We at Thermo Fisher Scientific are on the front-line supporting precision medicine through partnering with a variety of major stakeholders in the field, from patient advocacy groups to medical associations and Pharma.

Luca Quagliata, Ph.D., Global Director of Medical Affairs for Thermo Fisher Scientific, was speaking to Molly Campbell, Science Writer, Technology Networks.References:

1. Clinical Exome Studies Have Inconsistent Coverage, Clinical Chemistry, Volume 66, Issue 1, January 2020, Pages 199206.

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Removing the Barriers to Broad Adoption of NGS in Diagnostics - Technology Networks

CALGARY -- When Madden Ellis Garraway was just under two-years-old, he became very sick.

His skin was so dry it bled and he couldnt hold down food, causing his weight dropped to within ounces of his birth weight of seven pounds, six ounces.

Doctors struggled to figure out what was wrong.

We had a large list of things that we were thinking of, and our immunology team and my colleagues who are working with Madden were having trouble arriving at the right one," said Dr. Francois Bernier, head of the Department of Medical Genetics and a professor in the Department of Paediatrics at the University of Calgary's Cumming School of Medicine.

"In fact, we made some attempts to arrive at a diagnosis but we're still unsure. It took a while.

Doctors often struggle with diagnosing unusual health issues, especially those that may require genetic testing.

They often must rely on genome sequencing tests to determine the root cause of a disease and until now, large-scale genome sequencing tests were often sent to labs in the United States for analysis.

Bernier calls it "the diagnostic odyssey," a long, difficult, journey for families waiting while cliniciansfigure out what is causing the underlying health issues.

Madden Garraway in hospital at the age of two. (Photo courtesy the Garraway family)

Maddens family can attest to that.

It was months of waiting, wondering and worrying before Madden's blood was sent to a U.S. lab for genome analysis, where it was learned he suffered from a rare genetic condition called immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome.

IPEX is a rare genetic disorder that can be life threatening.

"If we could have learned about that instantly, or within the several weeks that we can do now, that will save a lot of time," said Maddens father, Patrick Garraway.

"We could have got on with his bone marrow transplant sooner."

Madden received a bone marrow transplant from his sister. Now five-years-old, the playful youngster has made a full recovery and no longer requires medication.

"There are so many families waiting for answers to serious medical conditions," said Bernier.

"Access to gene sequencing early in the medical journey can pinpoint the best treatment approaches and therapies to target the illness."

Madden Garraway today at the age of five. (Photo courtesy the Garraway family)

A new partnership struck between the University of Calgary, University of Alberta, and Alberta Precision Laboratorieswill help families and medical professionalsanswer to those diagnostic puzzles sooner.

The partnership is funded by Genome Canada, the Alberta Childrens Hospital Foundation, and other partners. Four other centres in Canada are also undertaking similar programs through Genome Canadas funding, one in B.C., two in Ontario and one in Quebec.

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Rapid genetic testing becomes available to Calgary medical community - CTV News

Jennifer Cook has dealt with migraine headaches and nosebleeds since she was in junior high school, but it wasnt until much later in life, after two small strokes in her 40s, that she discovered these seemingly disconnected ailments including strange, little red dots on her hands and face were all symptoms of a genetic disorder running rampant through three generations of her family.

We all started to connect the dots, said Cook, 48, of Sacramento, referring to about a decade ago, when her father was the first in the family diagnosed with hereditary hemorrhagic telangiectasia, or HHT, a little-known disorder causing malformed blood vessels that can affect the skin and other organs. Since then, her aunt, sister, two of her brothers and two of her daughters also have been diagnosed.

It was so shocking to find out, said her daughter Nina Murphy-Cook, 23, also of Sacramento, who was diagnosed four years ago. Bloody noses, headaches and strokes in really young people. Literally, we had no idea. We all got those little red spots on the skin. My mom just called them Irish moles and said it was just something our family gets.

Cook and her daughter, now patients at Stanford Health Cares recently designatedHHT Center of Excellence, are under the care of a multidisciplinary team of specialists that includes interventional radiologists, neurosurgeons, pulmonologists, otolaryngologists, hematologists, gastroenterologists and a genetic counselor. The team members diagnose, prevent and, if necessary, treat the disparate problems that can result from this often undiagnosed and misdiagnosed disease.

If people get diagnosed and treated, they can have a normal life expectancy with this disease, said Edda Spiekerkoetter, MD, associate professor of pulmonary and critical care medicine and director of the Stanford HHT center. Otherwise, theyre susceptible to chronic, dangerous illnesses without even knowing there are treatments that can prevent them from happening. Key to solving this problem is better educating the public, including doctors, on how to recognize the symptoms. Shes educating primary care physicians, otolaryngologists and dentists, in particular, to serve as frontline screeners: They can keep an eye out for the hallmark red dots, called teleangiectasia, in the oral cavity and on lips and ask about nosebleeds, which are extremely common in patients.

HHTcauses abnormal connections, called arteriovenous malformations, to develop between arteries and veins. They can cause all sorts of problems. These deformed vessels growmost commonly in the nose, lungs, brain, gut and liver andcan cause brain bleeds, nosebleeds, strokes, gastrointestinal bleeding and heart failure. Themalformationsgrow in place of smaller vessels called capillaries, which normally connect arteries and veins. Capillaries are responsible for oxygen uptake into the blood and filter small particles circulating in the blood. Bypassing the capillary bed, these larger, malformed vessels allow small blood clots, bacteria and air bubbles to circulate throughout the body unfiltered. This can lead to strokes or a reduction of oxygen in the blood, which can lead to shortness of breath and exhaustion.

To prevent complications from these deformed vessels in the lungs, you need an interventional radiologist to step in; to prevent brain bleeds, you need a neurosurgeon;abdominal bleeds and anemia can be controlled by a gastroenterologist and hematologist; andotolaryngologists can help prevent severe nosebleeds, Spiekerkoetter said. While HHT is rare affecting an estimated 1 in 5,000 people 90% of cases go undiagnosed, Spiekerkoetter said. Patients often dont get diagnosed until after a serious event, such as a stroke.

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Patients turn to Stanford's center of excellence for treatment of hereditary hemorrhagic telangiectasia - Stanford Medical Center Report

There are plenty of possible choices, but perhaps the most obnoxious type of Instagram selfie is the gym snapshot. In the world of social media, did you really visit the gym if you didnt post about it? These images and their captions usually make exercise seem like a breeze; a daily ritual that the fitness influencers of the world seem to be able to accomplish without the slightest bit of hesitation. For the rest of us, though, visiting the gym can feel like a struggle.

If youve ever felt like an entirely different species than the people who smile their way through 6 AMgym sessions four days per week, a new study finds that may not be as outlandish as it initially sounds. No, those people arent aliens, but researchers from Kings College London have discovered a connection between ones genes and their ability to exercise.

More specifically, theyve found a genetic mutation that appears to seriously hinder an individuals capacity to exercise efficiently. This mutation affects ones cellular oxygen sensing. Basically, this means that people with this genetic variation run out of breath faster and find it harder to partake in aerobic exercises.

These findings could seriously come in handy the next time your co-worker signs you up for that 5K run next month. Sorry, I totally would but my genes just wont cooperate!

To come to their conclusions, the studys authors examined a local patient who exhibited a particularly slow rate of physical growth, constant low blood sugar, a limited ability to exercise, and a large amount of red blood cells.

Over the course of that examination, the patient was placed in a simulated high altitude environment, had their exercise capacity formally measured, and underwent a series of metabolic tests.

This analysis allowed them to zero in on the specific gene that is influenced by this mutation: thevon Hippel-Lindau (VHL) gene. This gene is actually incredibly important for all us whenever our oxygen availability is reduced.

Upon closely analyzing the patients VHL gene, researchers noted that the mutation appears to cause impaired functionality in the mitochondria, the cellular powerhouse that uses oxygen to produce fuel. This hampered mitochondrial function is what causes people with this mutation to have an especially hard time with aerobic exercises.

So, the average persons cells are fully equipped to deal with a lack of oxygen, but those with this mutation dont share the same luxury.

The discovery of this mutation and the associated phenotype is exciting because it enables a deeper understanding of human physiology, especially in terms of how the human body senses and responds to reduced oxygen availability, comments study author Dr Federico Formenti, from KCLs School of Basic & Medical Biosciences, in a press release.

Before you go and cancel your gym membership while citing medical reasons, keep in mind this was an initial observation in one patient. Some days, we would all love an extra excuse to skip the gym and stay on the couch, but these findings are very, very preliminary. As of now, researchers are unsure just how prevalent this gene mutation is, as well as the full extent to which it can impact a persons life.

Regardless, this study is very noteworthy due to the simple fact that it has proven that some people are indeed genetically disinclined to exercising.

The full study can be found here, published in the New England Journal of Medicine.

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This is why you always skip the gym, according to scientists - Ladders

To examine genetic associations with food preferences, researchers from the Riken Center for Integrative Medical Sciences (IMS) and Osaka University in Japan studied the genetic data and food preferences of more than 160,000 people in Japan.

The research, published in the journal Nature Human Behavior, found genetic links for 13 dietary habits including consumption of alcohol, other beverages and foods, and also complex human diseases such as cancer and diabetes.

"We know that what we eat defines what we are, but we found that what we are also defines what we eat," said Yukinori Okada, Senior Visiting Scientist at Riken IMS and professor at Osaka University, in a press release.

This involves grouping thousands of people together depending on whether they have a disease and looking at DNA markers called single nucleotide polymorphisms, or SNPs, which can be used to predict the presence of that disease. If researchers find a SNP that is repeatedly associated with the disease group, they can assume that people with that genetic variation might be at risk for the disease.

Rather than looking at diseases, the Riken team examined dietary habits to find out if there were any markers that made people "at risk" for typically eating certain foods.

The researchers used data of more than 160,000 Japanese people from the BioBank Japan Project, launched in 2003 with a goal to provide evidence for the implementation of personalized medicine. The project collects DNA and clinical information, including items related to participants' lifestyles such as dietary habits, which were recorded through interviews and questionnaires.

They found nine genetic locations that were associated with consuming coffee, tea, alcohol, yogurt, cheese, natto (fermented soy beans), tofu, fish, vegetables and meat.

Variants responsible for the ability to taste bitter flavors were also observed. This association was found among people who liked to eat tofu; while those without the variant consumed less alcohol or none at all.

Those who ate more fish, natto, tofu and vegetables had a genetic variant that made them more sensitive to umami tastes, best described as savory or "meaty" flavors.

The main ingredients of the foods mattered, too -- for example, there were positive genetic correlations between eating yogurt and eating cheese, both milk-based foods.

In order to find whether any of these genetic markers associated with food were also linked with disease, the researchers conducted a phenome study.

The phenome comprises all the possible observable traits of DNA, known as phenotypes. Six of the genetic markers associated with food were also related to at least one disease phenotype, including several types of cancer as well as type 2 diabetes.

Nature vs. nurture: Food edition

Since the research studied only people native to Japan, the same genetic variations associated with food preferences are likely not applicable to populations across the globe. However, similar links have been discovered in different groups.

The study authored by Okada also didn't measure environmental factors. Our environment, demographics, socioeconomic status and culture -- such as whether we eat food from work or home; our age; how much money we make; and what our families eat -- are some of the biggest drivers of our food choices.

"These factors would weigh more than the genetics in some cases," said Dr. Jos Ordovs, director of Nutrition and Genomics at Tufts University in Massachusetts, who was not involved in the study.

"Something that sometimes we have felt is that the nutrition field has been focusing too much on nutrients rather than on foods," Ordovs said.

"Previous studies have been looking at genes that were associating with higher protein intake or higher fat intake or higher carbohydrate intake," Ordovs said. "But this study is more aligned with the fact that people eat foods. They don't just eat proteins, carbohydrates and fats. People tend to eat within a specific pattern."

Further research is needed to explain an exact balance between genetic predisposition and volition when it comes to food choices in different groups of people, but Okada suggests that by "estimating individual differences in dietary habits from genetics, especially the 'risk' of being an alcohol drinker, we can help create a healthier society."

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Prefer tea over coffee? It could be your genes, study finds - CNN

Things change fast. Even just a few months ago, most of us who arent virologists, microbiologists, or veterinarianshad probably never heard of coronaviruses. Yet last week, the Centers for Disease Control and Prevention advised that its not a question of whether the outbreak of a coronavirus known as SARS-CoV-2 (and its associated disease, COVID-19) would spread in U.S. communities, but whenand we should be prepared for potential disruptions in our daily lives as a result.

But this change didnt come out of nowhere. Even though this particular viral strain only recently emerged as a new human disease, coronaviruses have been around for a very long time. Likewise,Susan Weiss,a professor of microbiology at the Perelman School of Medicine, is newly quite busy launching research projects to help respond to the threat of the novel coronavirusbut coronaviruses generally have been a major focus of her research for four decades.

Coronaviruses first became better known among non-scientists in early 2003 thanks to the virus familys first famous human disease: Severe Acute Respiratory Syndrome (SARS). The agent, called SARS-CoV, started to cause illness in southern China before spreading to North America, South America, Europe, and Asia. It was really scary because there was a high mortality rate, but compared to whats going on now, it was fairly contained and small, Weiss says. Ultimately SARS dissipated within about eight months. Since 2004 there have been no more known cases. But SARS was a warning shotmore viruses like it could be out there, on the verge of transforming into strains that cause serious human illness. Based on analyses of the SARS virus and searches for related genetic sequences in the environment where it emerged, scientists determined that the human virus evolved from a bat coronavirus that infected a civet, from which it mutated again and jumped to humans.

After SARS, people started looking for human coronaviruses, and two others were identified, Weiss says. These new strains caused some more severe symptoms than a typical cold but were still rarely fatal.

Read more at Penn Medicine News.

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The biology of coronaviruses: From the lab to the spotlight - Penn: Office of University Communications

As the new coronavirus makes its way around the world, doctors and researchers are searching for drugs to treat the ill and stop the spread of the disease, which has already killed more than 3,800 people since its introduction in Wuhan, China, in December.

The culprit virus is in the same family as the coronavirusesthat caused two other outbreaks, severe acute respiratory syndrome and MiddleEast respiratory syndrome. But the new coronavirus may be more infectious. Inearly March, the number of confirmed cases of the new disease, called COVID-19,had exceeded 100,000, far surpassing the more than 10,600 combined total casesof SARS and MERS.

Health officials are mainly relying on quarantines to try tocontain the virus spread. Such low-tech public health measures were effectiveat stopping SARS in 2004, Anthony Fauci, director of the U.S. NationalInstitute of Allergy and Infectious Diseases, said January 29 in Arlington,Va., at the annual American Society for Microbiologys Biothreats meeting.

But stopping the new virus may require a more aggressive approach. In China alone, about 300 clinical trials are in the works to treat sick patients with standard antiviral therapies, such as interferons, as well as stem cells, traditional Chinese medicines including acupuncture, and blood plasma from people who have already recovered from the virus.

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Researchers are not stopping there. They also are working to develop drugs to treat infections and vaccines to prevent them (SN: 3/14/20, p. 6). But creating therapies against new diseases often takes years, if not decades. With this new coronavirus, now known as SARS-CoV-2, nobody wants to wait that long. Thanks to their experience developing treatments against the MERS coronavirus, as well as other diseases, such as HIV, hepatitis C, influenza, Ebola and malaria, researchers are moving quickly to see what they can borrow to help patients sooner.

Finding new uses for old drugs is a good strategy,especially when racing to fight a fast-moving disease for which there is notreatment, says Karla Satchell, a microbiologist and immunologist atNorthwestern University Feinberg School of Medicine in Chicago.

Repurposing drugs is absolutely the best thing that could happen right now, Satchell says. Potentially, drugs that combat HIV or hepatitis C might be able to put the new coronavirus in check, too. Those drugs exist. Theyve been produced. Theyve been tested in patients, she says. Although these drugs arent approved to treat the new coronavirus disease, theyre a great place to start. One of the most promising candidates, however, hasnt yet been approved for any disease.

Scientists have been quick to reveal the new coronavirussecrets. When SARS emerged in 2002, researchers took about five months to get acomplete picture of the viruss genetic makeup, or genome. With the new virus,Chinese health officials first reported a cluster of mysterious pneumonia casesin Wuhan to the World Health Organization on December 31. By January 10, thenew coronaviruss full genome was made available to researchers worldwide inpublic databases.

A viruss genome is one of the most valuable toolsscientists have for understanding where the pathogen came from, how it worksand how to fight it. The first thing that coronaviruses have in common is thattheir genetic material is RNA, a chemical cousin to DNA.

Researchers immediately began comparing the newcoronaviruss genome with SARS and MERS viruses and other RNA viruses todetermine whether drugs developed to combat those disease-causing organismswould work against the new threat. As a result, some potential Achilles heelsof SARS-CoV-2 have already come to light.

One target is the viruss main protein-cutting enzyme,called M protease. RNA viruses often make one long string of proteins thatlater get cut into individual proteins to form various parts of the virus. Inthe new coronavirus, the M protease is one of 16 proteins that are linked likebeads on a string, says Stephen Burley, an oncologist and structural biologistat Rutgers University in Piscataway, N.J.

The virus can mature and infect new cells only if M proteasecan snip the string of proteins free, he says. Stop the protease from cuttingand the virus cant reproduce, or replicate.

Existing drugs might be able to stop the viruss M protease, two research groups proposed online January 29 at bioRxiv.org. One group suggested four drugs, including one used to treat hepatitis C and two aimed at HIV. A second group named 10candidates, including an anti-nausea medication, an antifungal drug and some cancer-fighting drugs.

HIV and hepatitis C are both RNA viruses that need aprotease to cut proteins free from long chains. Drugs that inhibit thoseproteases can reduce levels of the HIV and hepatitis C viruses to undetectable.Some of those drugs are now being tested against the new coronavirus inclinical trials in China.

The HIV drug Kaletra, also called Aluvia, is a combination of two protease inhibitors, lopinavir and ritonavir. Kaletras maker, the global pharmaceutical company AbbVie, announced on January 26 that it is donating the drug to be tested in COVID-19 patients in China. Kaletra will be tested alone or in combination with other drugs. For instance, researchers may combine Kaletra with Arbidol, a drug that prevents some viruses from fusing with and infecting human cells. Arbidol may be tested on its own as well.

But the HIV drugs may not work against the new virus because of two differences in the proteases. The coronavirus protease cuts proteins in different spots than the HIV protease does, say Guangdi Li of the Xiangya School of Public Health of Central South University in Changsha, China, and Erik De Clercq, a pioneer in HIV therapy at KU Leuven in Belgium. Secondly, the HIV drugs were designed to fit a pocket in HIVs protease that doesnt exist in the new coronaviruss protease, the researchers reported February 10 in Nature Reviews Drug Discovery.

Yet a few anecdotal accounts suggest the HIV drugs may help people with COVID-19 recover. Doctors at Rajavithi Hospital in Bangkok reported in a news briefing February 2 that they had treated a severely ill 70-year-old woman with high doses of a combination of lopinavir and ritonavir and the anti-influenza drug oseltamivir, which is sold as Tamiflu. Within 48 hours of treatment, the woman tested negative for the virus.

Her recovery may be due more to the HIV drugs than to oseltamivir. In 124 patients treated with oseltamivir at Zhongnan Hospital of Wuhan University, no effective outcomes were observed, doctors reported on February 7 in JAMA. Clinical trials in which these drugs are given to more people in carefully controlled conditions are needed to determine what to make of those isolated reports.

Researchers may be able to exploit a second weakness in thevirus: its copying process, specifically the enzymes known as RNA-dependent RNApolymerases that the virus uses to make copies of its RNA. Those enzymes areabsolutely essential, says Mark Denison, an evolutionary biologist atVanderbilt University School of Medicine in Nashville. If the enzyme doesntwork, you cant make new virus.

Denison and colleagues have been testing molecules that muckwith the copying machinery of RNA viruses. The molecules mimic the nucleotidesthat RNA polymerases string together to make viral genomes. Researchers havetested chemically altered versions of two RNA nucleotides adenosine andcytidine against a wide variety of RNA viruses in test tubes and in animals.The molecules get incorporated into the viral RNA and either stop it fromgrowing or they damage it by introducing mutations, Denison says.

One of the molecules that researchers are most excited aboutis an experimental drug called remdesivir. The drug is being tested in peoplewith COVID-19 because it can stop the MERS virus in the lab and in animalstudies. The drug has also been used in patients with Ebola, another RNA virus.

Remdesivir has been given to hundreds of people infected with Ebola, without causing serious side effects, but the drug hasnt been as effective as scientists had hoped, virologist Timothy Sheahan of the University of North Carolina at Chapel Hill said January 29 at the Biothreats meeting. In a clinical trial in Congo, for example, about 53 percent of Ebola patients treated with remdesivir died, researchers reported November 27 in the New England Journal of Medicine. Thats better than the 66 percent of infected people killed in the ongoing Ebola outbreak, but other drugs in the trial were more effective.

Several tests of remdesivir in lab animals infected with MERS have researchers still hopeful when it comes to the new coronavirus. In studies in both rhesus macaques and mice, remdesivir protected animals from lung damage whether the drug was given before or after infection. Molecular pathologist Emmie de Wit of NIAIDs Laboratory of Virology in Hamilton, Mont., and colleagues reported the monkey results February 13 in the Proceedings of the National Academy of Sciences.

Remdesivir appears to be one of the most promisingantiviral treatments tested in a nonhuman primate model to date, the teamwrote. The results also suggest remdesivir given before infection might helpprotect health care workers and family members of infected people from gettingsevere forms of the disease, Sheahan says.

Denison, Sheahan and colleagues tested remdesivir on infected human lung cells in the lab and in mice infected with MERS. Remdesivir was more potent at stopping the MERS virus than HIV drugs and interferon-beta, the researchers reported January 10 in Nature Communications.

But the question is still open about whether remdesivir canstop the new coronavirus.

In lab tests, it can. Both remdesivir and the antimalaria drug chloroquine inhibited the new viruss ability to infect and grow in monkey cells, virologist Manli Wang of the Wuhan Institute of Virology of the Chinese Academy of Sciences and colleagues reported February 4 in Cell Research. Remdesivir also stopped the virus from growing in human cells. Chloroquine can block infections by interfering with the ability of some viruses including coronaviruses to enter cells. Wang and colleagues found that the drug could also limit growth of the new coronavirus if given after entry. Chloroquine also may help the immune system fight the virus without the kind of overreaction that can lead to organ failure, the researchers propose.

In China, remdesivir is already being tested in patients. And NIAID announced February 25 that it had launched a clinical trial of remdesivir at the University of Nebraska Medical Center in Omaha. The first enrolled patient was an American evacuated from the Diamond Princess cruise ship in Japan that had been quarantined in February because of a COVID-19 outbreak.

Ultimately, nearly 400 sick people at 50 centers around theworld will participate in the NIAID trial, which will compare remdesivir with aplacebo. The trial may be stopped or altered to add other drugs depending onresults from the first 100 or so patients, says Andre Kalil, an infectiousdisease physician at the University of Nebraska Medical Center.

Researchers considered many potential therapies, but basedon results from the animal and lab studies, remdesivir seemed to be the onethat was more promising, Kalil says.

In the early patient studies, figuring out when to give remdesivirto patients might not be easy, Sheahan says. Often drugs are tested on thesickest patients. For example, those in the NIAID trial must have pneumonia toparticipate. By the time someone lands in the intensive care unit withCOVID-19, it may be too late for remdesivir to combat the virus, Sheahan says.It may turn out that the drug works best earlier in the disease, before viralreplication peaks.

We dont know because it hasnt really been evaluated inpeople how remdesivir will work, or if it will work at all, Sheahan cautions.

The drug seems to have helped a 35-year-old man in Snohomish County, Wash., researchers reported January 31 in the New England Journal of Medicine. The man had the first confirmed case of COVID-19 in the United States. He developed pneumonia, and doctors treated him with intravenous remdesivir. By the next day, he was feeling better and was taken off supplemental oxygen.

Thats just one case, and the company that makes remdesivirhas urged caution. Remdesivir is not yet licensed or approved anywhereglobally and has not been demonstrated to be safe or effective for any use,the drugs maker, biopharmaceutical company Gilead Sciences, headquartered inFoster City, Calif., said in a statement on January 31.

But global health officials are eager to see the drug testedin people. Theres only one drug right now that we think may have realefficacy, and thats remdesivir, WHOs assistant director-general BruceAylward said during a news briefing on February 24. But researchers in Chinaare having trouble recruiting patients into remdesivir studies, partly becausethe number of cases has been waning and partly because too many trials ofless-promising candidates are being offered. We have got to start prioritizingenrollment into those things that may save lives and save them faster, Aylwardsaid.

Another strategy for combating COVID-19 involves distracting the virus with decoys. Like the SARS virus, the new virus enters human cells by latching on to a protein called ACE2. The protein studs the surface of cells in the lungs and many other organs. A protein on the surface of the new virus binds to ACE2 10 to 20 times as tightly as the SARS protein does.

Researchers at Vienna-based Apeiron Biologics announced February 26 that they would use human ACE2 protein in a clinical trial against the new coronavirus. When released into the body, the extra ACE2 acts as a decoy, glomming on to the virus, preventing it from getting into cells.

ACE2 isnt just a viruss doorway to infection. Normally, it helps protect the lungs against damage, says Josef Penninger, an immunologist at the University of British Columbia in Vancouver and a cofounder of Apeiron. Penninger and colleagues reported the proteins protective qualities, based on studies with mice, in Nature in 2005.

During a viral infection, the protein is drawn away from thecell surface and cant offer protection. Penninger thinks that adding in extraACE2 may help shield the lungs from damage caused by the virus and by immunesystem overreactions. The protein is also made in many other organs. Penningerand colleagues are testing whether the new virus can enter other tissues, whichmight be how the virus leads to multiple organ failures in severely ill people.

The decoy protein drug, called APN01, has already beenthrough Phase I and Phase II clinical testing. We know its safe, Penningersays. Now researchers just need to determine whether it works.

No one knows whether any of these approaches can help stemthe spread of COVID-19.

Right now, we need lots of people working with lots ofideas, Satchell says. Similarities between the viruses that cause SARS andCOVID-19 may mean that some drugs could work against both. There is a hopethat several small molecules that were identified as inhibitors of the SARSprotease would represent reasonable starting points for trying to make a drugfor the 2019 coronavirus, Burley says.

The open questionis, can you produce a drug that is both safe and effective quickly enough tohave an impact? SARS was stopped by traditional infection-control measures in2004, before any virus-fighting drugs made it through the development pipeline.

But had a decision been made then to spend $1 billion tomake a safe and effective drug against SARS, Burley says, such a drug might beworking now against the new coronavirus, eliminating the need to spend hundredsof billions of dollars to contain this new infection.

An investment in SARS would not have paid off for peoplewith MERS, which is still a danger in the Middle East. The MERS virus is toodifferent from SARS at the RNA level for SARS drugs to work against it.

But a future coronavirus might emerge that is similar enough to SARS and SARS-CoV-2 to be worth the cost, Burley says. Even if the current outbreak dwindles and disappears, he says, governments and companies should keep investing in drugs that can stop coronaviruses.

Im quite certain that the economic impact of the epidemic is going to run into the hundreds of billions, he says. So you would only need a 1 percent chance of something that was treatable with the drug to show up in the future to have made a good investment.

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Dublin, March 10, 2020 (GLOBE NEWSWIRE) -- The "Animal Biotechnology - Technologies, Markets and Companies" report from Jain PharmaBiotech has been added to ResearchAndMarkets.com's offering.

Share of biotechnology-based products and services in 2018 is analyzed and the market is projected to 2028. The text is supplemented with 36 tables and 6 figures. Selected 260 references from the literature are appended.

Approximately 124 companies have been identified to be involved in animal biotechnology and are profiled in the report. These are a mix of animal healthcare companies and biotechnology companies. Top companies in this area are identified and ranked. Information is given about the research activities of 11 veterinary and livestock research institutes. Important 110 collaborations in this area are shown.

The report contains information on the following:

This report describes and evaluates animal biotechnology and its application in veterinary medicine and pharmaceuticals as well as improvement in food production. Knowledge of animal genetics is important in the application of biotechnology to manage genetic disorders and improve animal breeding. Genomics, proteomics and bioinformatics are also being applied to animal biotechnology.

Transgenic technologies are used for improving milk production and the meat in farm animals as well as for creating models of human diseases. Transgenic animals are used for the production of proteins for human medical use. Biotechnology is applied to facilitate xenotransplantation from animals to humans. Genetic engineering is done in farm animals and nuclear transfer technology has become an important and preferred method for cloning animals. There is a discussion of in vitro meat production by culture.

Biotechnology has potential applications in the management of several animal diseases such as foot-and-mouth disease, classical swine fever, avian flu and bovine spongiform encephalopathy. The most important biotechnology-based products consist of vaccines, particularly genetically engineered or DNA vaccines. Gene therapy for diseases of pet animals is a fast developing area because many of the technologies used in clinical trials humans were developed in animals and many of the diseases of cats and dogs are similar to those in humans.RNA interference technology is now being applied for research in veterinary medicine

Molecular diagnosis is assuming an important place in veterinary practice. Polymerase chain reaction and its modifications are considered to be important. Fluorescent in situ hybridization and enzyme-linked immunosorbent assays are also widely used. Newer biochip-based technologies and biosensors are also finding their way in veterinary diagnostics.

Biotechnology products are approved by the Center for Veterinary Medicine of the FDA. Regulatory issues relevant to animal biotechnology are described.

List of Topics Covered

Executive Summary1. Introduction to Animal Biotechnology2. Application of Biotechnology in Animals3. A Biotechnology Perspective of Animals Diseases4. Molecular Diagnostics in Animals5. Biotechnology-based Veterinary Medicine6. Research in Animal Biotechnology7. Animal Biotechnology Markets8. Regulatory Issues9. Companies Involved in Animal Biotechnology10. References

For more information about this report visit https://www.researchandmarkets.com/r/qbm3p5

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Global Animal Biotechnology Industry Insights, 2018-2028 Featuring Profiles of ~124 Players and 110 Collaborations - GlobeNewswire

Swept up in a pancreatic cancer diagnosis is inevitably a sense of fear and sadness.

But at Penn, researchers are bringing new hope to this disease. And with patients like Nick Pifani, its clear that theyre moving in the right direction.

Pifani, from Delran, New Jersey, first noticed some lingering stomach upset in February 2017. He called his family doctor, concernedespecially given that he was an otherwise healthy marathon runner who was only 42. He was sent to a gastrointestinal specialist. A few weeks later, some crippling stomach pain sent him back to the emergency room and he received an MRI that showed a mass on his pancreasStage Three, inoperable, he was told.

He was treated with chemotherapy, along with radiation and, eventually, and after receiving advice from doctors at Penn, his tumor was removed. Thereafter, he realized he had a PALB2 mutationa cousin of the BRCA gene mutation. At that moment, his long-term needs changed and he found himself seeking specialized care at Penn, where he met Kim Reiss Binder, assistant professor of medicine at the Hospital of the University of Pennsylvania (HUP).

Im a planner; I want to understand what [my] potential options are, Pifani says. [Reiss Binder] asked why I was there to see her and I explained and quickly I could tell she wasoutside of her being remarkably intelligenta great listener and a compassionate doctor.

I have a feeling she worries about me more than I do, he laughs.

Pifani has now been in remission for two years and four months; he sees Reiss-Binder every three months for checkups. His survival story is inspiring and a sign of momentum, even if a world without pancreatic cancer is still frustratingly out of reach.

Pancreatic cancer is the third-leading cause of cancer-related death in the United States, outmatched only by lung cancer (No. 1) and colorectal cancer (No. 2). A person diagnosed with pancreatic cancer is still unlikely to survive past five yearsonly 9%of survivors do, giving it the highest mortality rate among every major cancer.

In short, pancreatic cancer seldom paves the way for optimistic narratives. Some of the hope that has surfaced, though, is thanks to some talent, dedication to the cause, and hard work at Penn.

A key point of progress in the battle against the disease was made in 2002, when former Assistant Professor of Medicine David Tuveson established a standard model for examining human development of this disease in mice. This model has allowed for a reliable way to study the disease and has influenced progress made here at Penn and elsewhere since.

Theres been a burst of activity in translational research, from bench to bedside, explains Ben Stanger, the Hanna Wise Professor in cancer research and director of the Penn Pancreatic Research Center (PCRC).

And theres a lot of momentum with community building, a dramatic increase in patient volumes, and a dramatic increase in what we know about the cancer, he says of the status of pancreatic cancer today.

Reiss Binder, meanwhile, explains that one mark of progress at Penn and beyond has been learning about people like Pifani, who have the PALB2 gene, and why they respond differently to treatments than those without it. Platinum-based chemotherapies, for example, are especially effective for people with the PALB2 gene who are battling pancreatic cancer. An ongoing trial at Penn has tested and found some success with using PARP inhibitorstaken orally as an enzyme that fixes single-stranded breaks of DNAas a maintenance therapy in that same PALB2 demographic after theyve had chemotherapy. These are less toxic than chemotherapy for patients with the same mutations.

Its all been slow progress toward better treatments, but there has been progress.

This is the tip of the iceberg for a disease that we historically have treated with perpetual chemotherapy,Reiss Binder says. We owe it to patients to find better options to suppress the cancer but not ruin their quality of life.

The consensus on why pancreatic cancer is so deadly? It just cant be spotted fast enough.

Pancreatic cancer often presents well after it has developed and metastasized, and does so in a way that is not easy to recognize as cancer. Common symptoms include, for example, stomach upset and back pain. And by the time a harder-to-ignore symptom of the cancer surfaces, a sort of yellowing of the skin (a result of a bile duct blockage), its likely too late to stop the cancer in its tracks.

One approach to improved detection being tested at Penn, by Research Assistant Professor of Medicine Erica Carpenter, is a liquid biopsydrawn from a standard blood test. Current means to test for pancreatic cancerimaging through an endoscopic tubeare invasive and expensive, meaning a common liquid test could transform how many cases are detected early.

Carpenter explains that circulating tumor cells (CTCs) can shed from a tumor thats adjacent to the wall of a blood vessel; whats shed then shows up in a blood test. The cells, if detected, can explain more about the nature of the tumor, giving doctors an opportunity to examine characteristics of cancerous cells and decide how to effectively treat a tumor if it cant be surgically removed. It also allows interpretations of disease burden and the effectiveness of medicationsthrough genome sequencingthat imaging does not.

Ultimately, this gives doctors the potential to track the growth of a tumor before its fully developed, all through one tube of blooddetected through an innovative use of technology.

David Issadore, associate professor of bioengineering and electrical and systems engineering in the School of Engineering and Applied Science, has worked since 2017 to develop a chip that detects cancer in the blood, using machine learning to sort through literally hundreds of billions of vesicles and cells, looking for these CTCs. The chip retrieves data and the machine learning developed interprets that data, attempting to make a diagnosis that not only finds pancreatic cancer but also provides information about its progressionand, importantly, whether a patient might benefit from surgery.

Right now, that test has a 24-hour turnaround, he says, but could eventually advance to having a one-hour turnaround. That would be a remarkable mark of progress for discovering the disease earlier when the chip enters a commercial stage.

Pancreatic cancer is a tough disease, and catching it early is hard, Issadore acknowledges. So, we think optimistically but also very cautiously, knowing what a challenging disease its been to make progress on, which is what drew us to the disease in the first place.

Im not an oncologist, he adds, but Im a bioengineer, and people like us who have a different perspective, the hope is we can do something truly [novel] to shift the [state of the disease].

He would eventually like to test the chip in people with other types of cancers, like lung, bladder, and liver.

For now, Penn still uses imaging as the standard of care but Carpenter is confident that blood testing is where were heading, starting with at-risk patients with diabetes and other risk factors.

The most important thing with this would be that when you put a patient on therapy, its good to know as early as possible how likely it is theyre going to respond, she explains. Tumor markers are increasingly valuable because you can avoid toxicity of the therapy, the expense of it, and most importantly you then have the opportunity to put the patient on something that might have more of an effect for them.

The challenge, she adds, is in pancreatic cancer we dont have that many effective therapies.

Another challenge, she adds, is to find the presence of exosomes, small pieces of tumor cells released into the blood stream, which she says are found in abundance among people with pancreatic cancer and could particularly be targeted among people living with diabetes or an intraductal papillary mucinous neoplasm (IPMN). So, at-risk candidates who may not present with the disease currently but are at risk. Several clinical studies and trials are currently taking place at Penn evaluating this.

A related area of interest is determining if people with diabetes, in particular, are developing cancer as part of the diabetes, or developing diabetes from the cancer. Risk factorsdiabetes, genetic markers, etc.continue to be an important area of study with pancreatic cancer.

Immunotherapy is rapidly changing the way patients are treated. And interest in immunotherapy for pancreatic cancer is growing exponentially.

But, its complicated.

We are still learning about the immune system in pancreatic cancer, explains Gregory Beatty, assistant professor of medicine and director of the Pancreatic Cancer Clinical Trials Program within the PCRC.

On one hand, we know that inflammation in the pancreas is a driver of pancreatic cancer. But we also know that T cells in the immune system can attack pancreatic cancer, he says.

The challenge that has surfaced is that T cells in patients living with pancreatic cancer are often weakened or slowed down; they dont divide or proliferate very well; and they have a hard time finding the cancer. That makes harnessing them for therapy a challenge. One idea, though, is to engineer ones own T cells (as inCAR T therapy), while theyre still healthy, to detect and kill pancreatic cancer cells.

Penn recently completed a trial in ovarian cancer, mesothelioma, and pancreatic cancer, using CAR T cells engineered to recognize a protein called mesothelin, which is expressed by pancreatic cancer. The team found that the T cells, when injected into the blood of patients, were safe but had limited activity.

These CAR T cells can kill pancreatic cancer in the lab really well. But why they dont do so in patients still remains a mystery, Beatty says.

It does prove that pancreatic cancer evades the immune system extraordinarily well.

Penn investigators have also done work on CD40, a protein expressed in a wide range of immune cells, explains Bob Vonderheide, the John H. Glick Abramson Cancer Center Professor. Patients are responding to treatment with CD40a protein that activates T cells to work more steadfastly and seek out cancer cells.

It seems to make chemo work better, Beatty explains.

This is a very promising treatment for convincing the immune system to attack pancreatic cancer, Beatty adds, And in the lab, we are finding ways to make it work even better.

The larger idea is to build on a backbone of chemo and CD40 in the future to help coax T cells to work better. Overall, a major thrust of treatment for patients at the PCRC is focused on unraveling ways to use immunotherapy while developing the next-generation of strategies for patients with BRCA 1 and 2 genes who are receiving PARP inhibitors.

The stress of a pancreatic cancer diagnosis can be dizzying. It is, says Pancreatic Nurse Navigator Trish Gambino, a cause to act fast.

We really believe pancreas cancer is a medical emergency much like a heart attack, she says. As a nurse navigator, I try to get newly diagnosed patients with pancreatic cancer expeditiously to the correct provider for staging and treatment.

Because of that, she says, patients are often still digesting their diagnosis while also juggling appointments, choosing a doctor, making decisions about care, settling personal matters, and communicating with insurance companies. Gambino, one of eight nurse navigators hired to put organization and compassion on the frontlines, takes multiple incoming callsas many as fiveper day from people who have been diagnosed and sound shell-shocked.

I get so many of these calls per week saying, Trish, I just went to the doctor and they told me I have a pancreatic mass on my CAT scan. And I dont know what to do, she says. A lot of times patients dont know what they need.

Her job is one of compassion but also pragmatism. She listens and places their concerns in context and individualizes her approach to moving patients in the right direction, laying out all the options and giving them a sense of order and control over their narrative.

It really does take a village to try to get people through this, Gambino explains, noting how overwhelming the cancer experience can be. When you have pancreas cancer, its not just the medical oncologist, the radiation oncologist, the surgeon, the dietician, the social worker, the nurse navigator, the infusion nurses, the nurse practitionerstheyre all there and the response is often Who is everybody? They need someone who can lead the team for them.

She says that Penn is especially well-regarded for its interdisciplinary teamseven factoring in diet and financial wellnessand their ability to act swiftly. Penn, for instance, performs more than 150 pancreatic cancer surgeries per year and is practiced at itnot typical of every hospital and a draw for newly diagnosed patients who are eligible for resection.

Looking ahead, Stanger is optimistic about advances in screening and immunotherapy treatmentparticularly research funded by the Parker Institute for Cancer Immunotherapy, started by Sean Parker, a cofounder of Facebook. Penn is one of 10 sites of major investment for research and was the impetus for the investment in pancreatic cancer.

Hes also encouraged that the research community surrounding pancreatic cancer is collaborative, he says, with many doctors recognizing the enormous challenge of the disease and working together well.

Celebrity diagnoses, like that of Alex Trebek, als0lend some hope in the messaging of how the disease is presented to the world today.

I talk to people almost every day, and when we talk about pancreatic cancer they say, Oh, thats a really bad one, he says. One thing I respect about Alex is he came out and was very forthcoming and he spoke with a great deal of confidence and hope in the medical community and gave a positive message that said, Im going to do my best to beat this.

Pifani, meanwhile, more than two years out from his surgery, is feeling optimistic. Hes mostly resumed a normal lifewith occasional side effects that linger, of course, and scans every six months. He runs marathons and spends time with his wife and kids. And, a member of the Survivor Council at the Pancreatic Cancer Action Network and sponsorship chair for the Philadelphia affiliate, he shows up to community events built around raising awareness of the disease and advocating research and caregiver support.

At Penn, he says, he feels like hes in the right place with his carethat hes in the best hands if something does happen, and recognizing the diseases ongoing presence in his life.

I got a long way to go, he says, but were off to a good start.

Homepage photo: Gregory Beatty, assistant professor of medicine and director of the Pancreatic Cancer Clinical Trials Program within the Penn Pancreatic Cancer Research Center, examines a blood sample.

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Penn is fighting pancreatic cancer - Penn: Office of University Communications

Vident Investment Advisory LLC bought a new stake in Sarepta Therapeutics Inc (NASDAQ:SRPT) in the fourth quarter, according to its most recent 13F filing with the Securities & Exchange Commission. The fund bought 2,197 shares of the biotechnology companys stock, valued at approximately $284,000.

A number of other hedge funds also recently modified their holdings of SRPT. Evolution Wealth Advisors LLC boosted its stake in Sarepta Therapeutics by 1,143.8% in the fourth quarter. Evolution Wealth Advisors LLC now owns 199 shares of the biotechnology companys stock valued at $26,000 after acquiring an additional 183 shares during the period. San Francisco Sentry Investment Group CA acquired a new position in Sarepta Therapeutics in the fourth quarter valued at approximately $34,000. Lighthouse Financial Advisors Inc. acquired a new position in Sarepta Therapeutics in the fourth quarter valued at approximately $42,000. Advisory Services Network LLC boosted its stake in Sarepta Therapeutics by 531.4% in the fourth quarter. Advisory Services Network LLC now owns 322 shares of the biotechnology companys stock valued at $42,000 after acquiring an additional 271 shares during the period. Finally, Tower Research Capital LLC TRC acquired a new position in Sarepta Therapeutics in the third quarter valued at approximately $47,000. Institutional investors own 97.11% of the companys stock.

SRPT has been the subject of a number of research reports. HC Wainwright lifted their target price on Sarepta Therapeutics from $160.00 to $260.00 in a research note on Friday, December 13th. JMP Securities decreased their target price on Sarepta Therapeutics from $280.00 to $217.00 and set an outperform rating for the company in a research note on Thursday, February 27th. Oppenheimer reiterated a hold rating on shares of Sarepta Therapeutics in a research report on Monday, December 30th. Cowen reiterated a buy rating and set a $213.00 price objective on shares of Sarepta Therapeutics in a research report on Tuesday, January 14th. Finally, Royal Bank of Canada reduced their price objective on Sarepta Therapeutics from $215.00 to $200.00 and set an outperform rating for the company in a research report on Monday, December 23rd. Two equities research analysts have rated the stock with a hold rating, twenty-four have issued a buy rating and one has assigned a strong buy rating to the company. The company currently has a consensus rating of Buy and an average target price of $193.95.

SRPT traded down $9.97 during trading on Monday, reaching $107.13. The stock had a trading volume of 42,503 shares, compared to its average volume of 733,097. The firm has a market capitalization of $9.34 billion, a price-to-earnings ratio of -11.21 and a beta of 2.08. The company has a quick ratio of 4.90, a current ratio of 5.55 and a debt-to-equity ratio of 0.89. Sarepta Therapeutics Inc has a 1-year low of $72.05 and a 1-year high of $158.80. The stock has a 50 day moving average of $119.68 and a two-hundred day moving average of $105.71.

Sarepta Therapeutics (NASDAQ:SRPT) last released its earnings results on Wednesday, February 26th. The biotechnology company reported ($3.16) earnings per share for the quarter, missing analysts consensus estimates of ($1.86) by ($1.30). The firm had revenue of $100.11 million during the quarter, compared to analyst estimates of $100.10 million. Sarepta Therapeutics had a negative return on equity of 67.13% and a negative net margin of 187.77%. During the same quarter last year, the company earned ($2.05) earnings per share. On average, research analysts forecast that Sarepta Therapeutics Inc will post -8.22 EPS for the current fiscal year.

Sarepta Therapeutics Company Profile

Sarepta Therapeutics, Inc focuses on the discovery and development of RNA-based therapeutics, gene therapy, and other genetic medicine approaches for the treatment of rare diseases. The company offers EXONDYS 51, a disease-modifying therapy for duchenne muscular dystrophy (DMD). Its products pipeline include Golodirsen, a product candidate that binds to exon 53 of dystrophin pre-mRNA, which results in exclusion or skipping of exon during mRNA processing in patients with genetic mutations; and Casimersen, a product candidate that uses phosphorodiamidate morpholino oligomer (PMO) chemistry and exon-skipping technology to skip exon 45 of the DMD gene.

Further Reading: Balance Sheet

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Vident Investment Advisory LLC Buys Shares of 2,197 Sarepta Therapeutics Inc (NASDAQ:SRPT) - Redmond Register