Monthly Archives: April 2022

CAMBRIDGE, Mass., April 27, 2022 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, will report first quarter 2022 financial results after the Nasdaq Global Market closes on Wednesday, May 4, 2022. Subsequently, at 4:30 p.m. E.T., the Company will host a conference call to discuss its first quarter 2022 financial results and to provide a corporate update.

The conference call may be accessed by dialing (800) 895-3361 for domestic callers and (785) 424-1062 for international callers. The passcode for the call is SAREPTA. Please specify to the operator that you would like to join the "Sarepta Therapeutics First Quarter 2022 Earnings Call." The conference call will be webcast live under the investor relations section of Sarepta.com and will be archived there following the call for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

About Sarepta TherapeuticsSarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

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

Source: Sarepta Therapeutics, Inc.

Investor Contact: Ian Estepan, 617-274-4052iestepan@sarepta.com

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

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Sarepta Therapeutics to Announce First Quarter 2022 Financial Results and Recent Corporate Developments on May 4, 2022 | Sarepta Therapeutics, Inc. -...

Holly Tabor

Associate professor, Stanford University

For many people with a genetic condition, uncovering the gene responsible opens the door to accurate diagnosis and better treatment. But thats not yet the case for most autistic people despite decades of research that has implicated hundreds of genes.

The disconnect raises ethical questions about the goals and practice of autism genetics research, says Holly Tabor, associate professor of medicine at Stanford University in California and associate director for the schools Center for Biomedical Ethics.

Most autism genetics studies tout the possibility of more personalized treatments following a genetic diagnosis, but with such treatments not yet a reality, scientists need to reconsider their stated goals, Tabor says. Not getting it right can have big consequences. In October, for example, researchers had to pause recruitment for the U.K. genetics study Spectrum 10K after some autistic advocates questioned that studys aims.

That doesnt mean we stop doing the research or the research is inherently bad, says Tabor, whose son is autistic. Its more about, how can we do it better? How do we not have another 20 years of research that doesnt significantly impact the lives of people with autism?

Tabor spoke with Spectrum about autism researchers social responsibilities, the ableism that, in her opinion, permeates the genetics field, and the need for that community to reflect on its future.

This interview has been edited for length and clarity.

Spectrum: What issues do you see in autism genetics research?

Holly Tabor: I have been really disheartened and disappointed at the lack of tangible outcomes that have come from a tremendous amount of excellent genomic research over the past 20 years. I dont think that thats anybodys fault. That was the right thing to do, and it continues to be a good research thing to do. But we have to be honest about the real outcomes and the ways in which we havent actually succeeded as we hoped. Transparency is important if we want to continue doing this research.

In research on other genetic conditions, such as cystic fibrosis or sickle cell disease, the people doing genetic research overlap with people involved in clinical care and diagnosis. In autism, historically theres been more of a divide. That leads to a gap in the agenda for the research. That is really an opportunity to be filled, and an opportunity for funding agencies to target. It doesnt mean we shouldnt do genetic research, but we should make it more integrated with the community and with the needs of the community.

I like the Maya Angelou quote: When you know better, do better. We know better, and we can do better.

S: How can geneticists better integrate the autistic community in their work?

HT: One way is by building on some of the models from PCORI [Patient-Centered Outcomes Research Institute] and other kinds of community-based participatory research to involve adults with autism to set the agenda, design the research and think about the translation of the research. Theres a science of how to do this properly. There are some protocols that have been empirically tested about how to engage communities properly. That would really help with challenges such as what happened with Spectrum10K.

Theres also a real opportunity to think about other ways that genetics and genomics research can be implemented into clinical care and diagnosis. If we found more genetic loci that predispose people to autism, what would we do with that information? Part of the dream for many researchers is to be able to say, People with this genetic susceptibility gene are more likely to respond to this kind of therapy, or to have challenges with speech and communication.

We need to think bigger than that. We have these cohorts with some clinical data and a lot of genetic data. What other kinds of questions can we study about the natural history of autism, about the lived experiences of people with autism, about different kinds of interventions? How can we involve the communities in that research to be dynamic partnerships? Whats the sustainability? How are we going to build on the data collections?

S: Ive heard you say that autism genetics researchers have a responsibility to be leaders in ethical genetics research, given how big the datasets are. What does that responsibility look like?

HT: The scientific, social, anthropological structure on which most science is based emphasizes people being experts in one particular discipline. And there arent a lot of incentives to have people think about their social responsibility. What are the injustices that still exist for people with the condition or people in the specific population that Im studying? How can I involve people in my work to become more aware of that? How can I partner with other researchers who have different expertise?

I would love to see funding agencies incentivize collaboration and partnership with the community of people with autism and their families, to try to have some shared values and priorities. You could argue that the Interagency Autism Coordinating Committee sort of does that. But it doesnt trickle down to the individual researchers.

Theres also a legitimate criticism among autistic people that genetics research is primarily not designed for them, and that its not going to improve their life. Its really hard to argue with that.

Some of the same people will argue that the kind of genetics and genomics research that has historically happened with autism, and is still happening, is really designed to try to make sure that people with autism arent born. I was at an ethics and autism conference a number of years ago, and someone asked me why I wanted to support genetics research and was I a eugenicist. I was really taken aback. I had always seen, and still do see, genetics for the power it can have to improve peoples lives. But it was a pivotal moment for me in thinking about the reasons why many people with autism perceive autism genetics research this way. Autistic people are more studied than they are partners in studies. Thats wrong.

S: Do you think ethics education could help?

HT: I dont think that thats the main solution for autism. What I would love is to have a component of the funding mechanism require engagement with the autistic community. I would like conferences and forums to bring in autistic people along with people who do autism research in genetics and genomics and in totally different areas. This includes conferences that are not autism specific but might have autism genomics research being presented, such as the American Society of Human Genetics or the American College of Medical Genetics meetings.

As a field, we have to be more aware about the context of autism and disability. Autism is very much a target of the medical model of disability. The approach has been, If we could only figure out the causes of autism, then we could prevent it, we could treat it, we could fix it. And there are some things about that that are not wrong. But it also contains a significant component of ableism that autism is such a tragedy. Thats dangerous and, quite frankly, inappropriate.

Moving forward, Im hoping for clinical genomics in general, and autism clinical genomics specifically, to have an anti-ableist view of thinking that doesnt minimize the legitimate quality-of-life issues and medical issues that exist for people with autism, particularly for people with more severe manifestations, but that also doesnt treat it as something we have to fix that were going to have a widely applicable gene therapy for someday.

Cite this article: https://doi.org/10.53053/RTOW6991

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Ethical gaps in autism genetics: A conversation with Holly Tabor | Spectrum - Spectrum

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Global Gene Therapy Medicine Market 2022 | Demand and Scope with Outlook, Business Strategies, Challenges and Forecasts to 2028 Ripon College Days -...

RenaCARE study expected to be fully enrolled by end of Q2 of 2022

AUSTIN, Texas, April 26, 2022 /PRNewswire/ -- Natera, Inc.(NASDAQ: NTRA), a global leader in cell-free DNA testing, today announced the RenaCARE (Renasight Clinical Application, Review and Evaluation) study - a real world, prospective, multi-center clinical study to assess the clinical utility of the Renasight genetic testing panel. The study has already enrolled 1,600 patients across 25 sites, representing leading academic and private nephrology clinics in the U.S., and will enroll up to 2,000 patients. It is expected to complete enrollment in the second quarter of 2022 with a publication expected to be submitted in late 2022.

The study aims to demonstrate how genetic findings impact the management of patient care and examines diagnostic outcomes of patients tested with the Renasight genetic testing panel. In addition, the study will assess patient satisfaction, health knowledge and genetic literacy. This study follows a 2019 publication1 in The New England Journal of Medicine (NEJM) showing that 89% of patients who tested positive with a multi-gene genetic test had actionable clinical implications.

"Chronic kidney disease affects more than 10% of the global population, and our 2019 NEJM study showed roughly a 10% genetic yield among CKD patients," said Ali Gharavi, M.D., chief of the Division of Nephrology at New York-Presbyterian/Columbia University Irving Medical Center, director of the Center for Precision Medicine and Genomics in the Department of Medicine, interim director of the Institute of Genomic Medicine at Columbia University Vagelos College of Physicians and Surgeons, the study's principal investigator and a close collaborator with Kidney Disease: Improving Global Outcomes foundation (KDIGO) and the National Kidney Foundation (NKF). "We're optimistic that this study will show that next-generation sequencing (NGS) multi-gene assays can be used in a real world setting, to inform and guide disease management and help improve patient outcomes."

"We're confident that the RenaCARE study will confirm the high clinical utility shown in prior studies. This will be an important addition to the growing body of evidence showing the value of genetic testing to clarify an undifferentiated diagnosis, identify a genetic subtype within a diagnosis, reclassify a diagnosis, or provide insights for genetic counseling, family planning and clinical trial access," said Hossein Tabriziani, M.D., senior medical director of organ health for Natera.

All patients undergoing testing using the Renasight panel are offered optional pre- and post-test genetic information sessions with a genetic counselor in addition to their test results. Similarly, providers have access to Natera's genetic counselors for questions about the Renasight testing panel and review of test results.

Natera designed and launched the Renasight genetic testing panel with the feedback of general nephrologists, pediatric nephrologists, and transplant nephrologists. Natera has performed over 10,000 Renasight tests to date.

About Renasight

The Renasight test is a germline genetic test that screens for hereditary causes of kidney disease. It is indicated for patients with diagnosed kidney disease and is run from a patient's blood or saliva sample. Providers can use the Renasight test to identify a genetic predisposition, clarify a clinical diagnosis, or identify the etiology of an unknown kidney disease to help inform medical management. Additionally, genetic counseling and familial testing can be offered based on the test result. The test has been developed and its performance characteristics determined by the CLIA-certified laboratory performing the test. The test has not been cleared or approved by the U.S. Food and Drug Administration (FDA). CAP accredited, ISO 13485 certified, and CLIA certified.

About Natera

Natera is a global leader in cell-free DNA testing, dedicated to oncology, women's health, and organ health. Our aim is to make personalized genetic testing and diagnostics part of the standard of care to protect health and enable earlier and more targeted interventions that help lead to longer, healthier lives. Natera's tests are validated by more than 100 peer-reviewed publications that demonstrate high accuracy. Natera operates ISO 13485-certified and CAP-accredited laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA) in Austin, Texas and San Carlos, California. For more information, visit http://www.natera.com.

Forward-Looking Statements

All statements other than statements of historical facts contained in this press release are forward-looking statements and are not a representation that Natera's plans, estimates, or expectations will be achieved. These forward-looking statements represent Natera's expectations as of the date of this press release, and Natera disclaims any obligation to update the forward-looking statements. These forward-looking statements are subject to known and unknown risks and uncertainties that may cause actual results to differ materially, including with respect to whether the results of clinical or other studies will support the use of our product offerings, our expectations of the reliability, accuracy and performance of our screening tests, or of the benefits of our screening tests and product offerings to patients, providers and payers. Additional risks and uncertainties are discussed in greater detail in "Risk Factors" in Natera's recent filings on Forms 10-K and 10-Q and in other filings Natera makes with the SEC from time to time. These documents are available atwww.natera.com/investorsandwww.sec.gov.

ContactsInvestor Relations:Mike Brophy, CFO, Natera, Inc., 510-826-2350Media:Kate Stabrawa, Communications, Natera, Inc., 720-318-4080pr@natera.com

References

View original content to download multimedia:https://www.prnewswire.com/news-releases/natera-announces-definitive-study-to-evaluate-the-clinical-utility-of-renasight-in-the-diagnosis-and-management-of-chronic-kidney-disease-ckd-301532625.html

SOURCE Natera, Inc.

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Natera Announces Definitive Study to Evaluate the Clinical Utility of Renasight in the Diagnosis and Management of Chronic Kidney Disease (CKD) -...

This therapy, using sustained release of nitric oxide, may be a novel, efficient and safe way to prevent and treat multiple metabolic diseases.

Jeonga Kim, Ph.D.A novel therapy developed at the University of Alabama at Birmingham ameliorates obesity and Type 2 diabetes in mice fed a high-fat diet. The therapy acts through sustained release of nitric oxide, a gaseous signaling chemical whose most important function in the body is relaxing the inner muscles of blood vessels.

Because reduced bioavailability of nitric oxide is the hallmark of cardiometabolic syndrome, supplying exogenous nitric oxide at a sustained level may be an efficient way of treating the cardiometabolic syndrome, said Jeonga Kim, Ph.D., leader of the UAB study. The strategy of reducing body weight by the local delivery of nitric oxide may be a novel, efficient and safe way to prevent and treat multiple metabolic diseases.

This study, published in the journal ACS Applied Materials & Interfaces, used an ingenious self-assembling, nanomatrix gel capable of releasing a burst of nitric oxide in the first 24 hours, followed by sustained nitric oxide release for four weeks. The gel was developed by UAB researchers Ho-Wook Jun, Ph.D., and Brigitta Brott, M.D., and it is licensed through the UAB Harbert Institute for Innovation and Entrepreneurship by their UAB spinoff company, Endomimetics LLC.

The gel was injected subcutaneously into 8-week-old mice every two weeks for 12 weeks. Gel-injected mice and control mice were fed a high-fat diet, known to induce obesity and insulin resistance.

At the end of 12 weeks, the nitric oxide-mice had gained 17 percent less body weight, compared to controls, and that weight difference was due mainly to decreased fat, not lean mass or water content. The researchers saw increased phosphorylation of the enzyme hormone-sensitive lipase and a reduction in the size of fat cells in epididymal white adipose tissue, or eWAT. Increased lipolysis may explain the reduced body weight, Kim says.

The nitric oxide-mice also showed improved glucose tolerance, and decreases in fasting serum insulin and leptin levels.

Kim and colleagues found wide-ranging changes in measures of inflammation and metabolism in the nitric-oxide mice, compared to controls. The expression of four inflammatory genes, including a marker for macrophages, was reduced in eWAT.

The nitric oxide gel also appeared to stimulate the browning of adipose tissue, through increased gene expression of uncoupled protein 1 in brown adipose tissue and beige adipose tissue. Nitric oxide is known to increase mitochondrial biogenesis, a mechanism for the conversion of white adipocytes to beige adipocytes. Brown adipose tissue, or brown fat, produces heat to maintain body temperature in cold conditions. The fat cells in brown adipose tissue and in inguinal adipose tissue from the nitric oxide-mice were also smaller than cells from controls.

The nitric oxide gel also protected against non-alcoholic fatty liver disease, as seen by lower liver weight, reduced triglycerides in the liver, and reduced triglycerides and cholesterol in blood serum. The nitric oxide gel also improved insulin sensitivity, as measured by increased expression of five insulin-signaling molecules in skeletal muscle, liver or eWAT.

The mice that received the nitric oxide gel also had improved cerebral blood flow, and they showed significantly improved spatial learning ability, as measured by the Morris water maze test. It is unknown whether those changes were a direct effect of nitric oxide or were mediated through the neuroprotective effects of adipocyte beiging.

Co-authors with Kim, Jun and Brott in the study, Subcutaneous administration of nitric oxide-releasing nanomatrix gel ameliorates obesity and insulin resistance in high fat diet-induced obese mice, are Guang Ren and Sushant Bhatnagar, UAB Department of Medicine, Division of Endocrinology, Diabetes and Metabolism; Patrick Tae Joon Hwang and Reid Millican, Endomimetics, LLC, Birmingham, Alabama; Juhee Shin, UAB Department of Biomedical Engineering; Brigitta C. Brott and Martin E. Young, UAB Department of Medicine, Division of Cardiovascular Disease; and Thomas van Groen and Craig M. Powell, UAB Department of Neurobiology.

At UAB, Kim is an associate professor in the UAB Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, and she is a scientist in the UAB Comprehensive Diabetes Center.

Support came from UAB and from National Institutes of Health grants DK079626, HL128695, HL163802, AG058078, DK95975-03, DK120684-01, DK109789 and NS047466.

The departments of Medicine and Neurobiology are in the Marnix E. Heersink School of Medicine at UAB. Biomedical Engineering is a joint department of the Heersink School of Medicine and the UAB School of Engineering.

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A novel therapy ameliorates obesity and Type 2 diabetes in mice fed a high-fat diet - University of Alabama at Birmingham

MORGANTOWN, W.Va. -- A new data-driven mechanistic approach that predicts cell types within tissue will help to reduce drug costs and treat diseases that were difficult to develop drugs for, according to a West Virginia University scientist.

David Klinke, professor in the Department of Chemical and Biomedical Engineering, developed and tested a mechanistic approach to predict the number and function of different cell types within a particular tissue and how they change when a malignant (cancerous) cell acquires the ability to secrete a protein.

Ultimately, we want to develop drugs that broaden the clinical benefit of immunotherapies, said Klinke, whos also an adjunct assistant professor in the WVU School of Medicine and member of the Cancer Institute.

Mechanistic models have been created by hand by experts, but there are gaps in researchers understanding of biology because 90% of research publications focus on only 20% of genes in humans.

Research from this study, published in Nature Communications, sifts through large datasets to predict how secretion of one gene product by a malignant cell influences other cell types within a tissue directly from the data. This provides a complement to the hand-created models that play important roles in drug development.

Under normal conditions, ones immune system defends against infectious disease, Klinke said. However, most cancers arise through an evolutionary process of mutation and selection. Every cell has the blueprint in its DNA to make every gene product. In that process of mutation and selection, re-expression of some of these gene products may provide malignant cells with the ability to suppress immune response.

Human tissues are made up of specialized cell types that are organized to maintain function in a changing environment. Ultimately, the functional orientation of cell types within a tissue interact to create a heterocellular network -- a network of many different cell types that interact to collectively achieve a goal. A heterocellular network is important to create and maintain tissue equilibrium.

While researchers know that tissue equilibrium is disrupted during oncogenesis, or the development of a tumor, there is no clear understanding of how genetic alterations influence the heterocellular network within human tissues.

Klinke said one of the barriers for broadening clinical benefit is that malignant cells create environments that suppress host immunity.

This new data-driven approach allows researchers to predict how a gene product secreted by a malignant cell changes the prevalence and functional orientation of other cell types within a human tissue.

Klinke said that studying how one event causes another is challenging to do in systems where it's difficult for researchers to see what is happening like within an intact human tissue.

To test their predictions, using digital cytometry and Bayesian network inference, Klinke and his team examined immunocompetent mouse models of cancer. With this approach, Klinke was able to predict how a protein secreted by malignant cells alters the heterocellular network in the context of melanoma and breast cancer.

Digital cytometry, which is the measurement of the number and characteristics of cells, and Bayesian network (a probabilistic graphical model) inference were used because there are datasets available with these models that contain sequenced homogenized (similar) tumor tissue.

We can change the expression of a gene and then see whether the prevalence and functional orientation of different cell types in the tumor changes similarly as predicted by the Bayesian network model.

Klinke said the conventional approach to predict the functional orientation of cell types is to change the expression of a secreted protein and then quantify different cell types using different experimental approaches.

For this study, Klinke used mechanistic modeling to represent the mechanisms that support the biology and predict scenarios using simulation instead of actually testing the scenario in humans.

These models are highly complicated but let me use a simple analogy, Klinke said. Say that we want to hit a target using an artillery shell and we have only one shot. Given our understanding of the laws of physics, we know that we need to know a few things about the projectile and all the forces acting on the projectile. Given this information, we can simulate with a computer that if we fire the projectile in a certain direction or angle, it will land in a certain location.

Similarly, we know a lot about the underlying biology associated with a drug, but there are also some things that we dont know, and we cant test everything in humans. Given common conversations in the media about the high price of drugs, testing new drugs in humans is expensive and the vast majority of new drugs tested dont work.

Klinke said that one of the ways that mechanistic modeling and simulation can help is by providing a way to bring all the different pieces of understanding together in the same context.

If there are key aspects missing, we run simulations to see if targeting some aspect of the biology with a drug makes sense. Mechanistic modeling and simulation have had an impact on a number of other industries, and this is now being applied to drug development.

Klinke hopes that this research can be used in other contexts like cancers or immunologic diseases.

Ultimately, we all care that when we get sick, there are treatments that can improve our health and not bankrupt us in the process. Like many other industries, the pharma industry is turning increasingly to mechanistic modeling and simulation to better prioritize potential targets and reduce the time to clinic. Collectively, this will help reduce drug costs and help treat diseases that were difficult to develop drugs for.

Citation: Data-driven learning how oncogenic gene expression locally alters heterocellular networks

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WVU researcher develops data-driven approach to help reduce drug costs and treat diseases - West Virginia University