Category Archives: Genetic medicine

CAMBRIDGE, Mass., Oct. 27, 2021 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (SRPT, Financial), the leader in precision genetic medicine for rare diseases, will report third quarter 2021 financial results after the Nasdaq Global Market closes on Wednesday, November 3, 2021. Subsequently, at 4:30 p.m. E.T., the Company will host a conference call to discuss its third quarter 2021 financial results and to provide a corporate update.

The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 7131019. Please specify to the operator that you would like to join the "Sarepta Third Quarter 2021 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 visit http://www.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, 617-274-4052[emailprotected]

Media Contact: Tracy Sorrentino, 617-301-8566[emailprotected]

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Sarepta Therapeutics to Announ - GuruFocus.com

Sub-retinal delivery of closed-ended DNA (ceDNA) using a retina-specific cell-targeted LNP (ctLNP) demonstrated broad photoreceptor distribution, durable expression and tolerability in rodents; potential to address inherited retinal diseases with full gene replacement

Uniform retinal transduction and tolerability also demonstrated for ctLNP delivery of mRNA following sub-retinal injection in non-human primates; potential best-in-class non-viral delivery of mRNA for gene editing in the retina

CAMBRIDGE, Mass., Oct. 22, 2021 (GLOBE NEWSWIRE) -- Generation Bio Co. (Nasdaq: GBIO), a biotechnology company innovating genetic medicines for people living with rare and prevalent diseases, today presented new preclinical data demonstrating widespread delivery of multiple nucleic acid cargos to photoreceptors using the companys cell-targeted lipid nanoparticle (ctLNP). The findings were shared in an oral presentation at the European Society of Gene and Cell Therapy (ESGCT) 2021 Annual Virtual Congress.

Were excited to extend the benefits of our highly specific, cell-targeted LNP to the retina, where non-viral delivery of nucleic acids has long been held back by poor tolerability and low expression. Our ability to selectively deliver multiple nucleic acid cargos to the retina using ctLNP may allow us to address a variety of inherited retinal diseases using full gene replacement or gene editing, said Matthew Stanton, Ph.D., chief scientific officer of Generation Bio.

Sub-retinal delivery of Generation Bios proprietary closed-ended DNA (ceDNA) using ctLNP demonstrated broad photoreceptor distribution and durable expression in rodents. Expression was comparable to AAV5 delivery, and ctLNP-ceDNA was well-tolerated without evidence of photoreceptor degeneration, supporting the potential for full gene replacement to address inherited retinal diseases.

Data were also presented for sub-retinal delivery of mRNA using ctLNP, representing the first-ever demonstration of species translation from rodents to non-human primates with tolerability and uniform photoreceptor expression. Distribution with ctLNP was broader and more uniform than that achieved with AAV5 in mice, and total expression was comparable to AAV5. These findings suggest ctLNP as a best-in-class non-viral delivery system for mRNA, potentially enabling gene editing in the retina.

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Diseases such as Stargardt cannot be addressed with traditional viral-based genetic therapies due to the limited cargo capacity of the viral vector. We believe these data using our non-viral genetic medicine platform provide a promising path to treat this challenging disease and others like it, and may expand our platforms potential to enable multiple therapeutic modalities, including full gene replacement and gene editing, said Tracy Zimmermann, Ph.D., chief development officer of Generation Bio. "We are excited for the potential for our non-viral delivery technology to expand therapeutic opportunities in the retina as well as to target other tissue types for the treatment of a broad range of diseases.

To view the digital presentation, please visit Generation Bios website.

About Generation BioGeneration Bio is innovating genetic medicines to provide durable, redosable treatments for people living with rare and prevalent diseases. The companys non-viral genetic medicine platform incorporates a novel DNA construct called closed-ended DNA, or ceDNA; a unique cell-targeted lipid nanoparticle delivery system, or ctLNP; and a highly scalable capsid-free manufacturing process that uses proprietary cell-free rapid enzymatic synthesis, or RES, to produce ceDNA. The platform is designed to enable multi-year durability from a single dose, to deliver large genetic payloads, including multiple genes, to specific tissues, and to allow titration and redosing to adjust or extend expression levels in each patient. RES has the potential to expand Generation Bios manufacturing scale to hundreds of millions of doses to support its mission to extend the reach of genetic medicine to more people, living with more diseases, around the world.

For more information, please visit http://www.generationbio.com.

Forward-Looking StatementsAny statements in this press release about future expectations, plans and prospects for the company, including statements about our strategic plans or objectives, our technology platform, our research and clinical development plans, the expected timing of the submission of IND applications and preclinical data, our manufacturing plans, our expectations regarding our new facility and other statements containing the words believes, anticipates, plans, expects, and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: uncertainties inherent in the identification and development of product candidates, including the conduct of research activities, the initiation and completion of preclinical studies and clinical trials and clinical development of the companys product candidates; uncertainties as to the availability and timing of results from preclinical studies and clinical trials; whether results from preclinical studies will be predictive of the results of later preclinical studies and clinical trials; uncertainties regarding the timing and ability to complete the build-out of the companys manufacturing facility and regarding the new manufacturing process; expectations regarding the timing of submission of IND applications; expectations for regulatory approvals to conduct trials or to market products; challenges in the manufacture of genetic medicine products; whether the companys cash resources are sufficient to fund the companys operating expenses and capital expenditure requirements for the period anticipated; the impact of the COVID-19 pandemic on the companys business and operations; as well as the other risks and uncertainties set forth in the Risk Factors section of our most recent annual report on Form 10-K and quarterly report on Form 10-Q, which are on file with the Securities and Exchange Commission, and in subsequent filings the company may make with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the companys views as of the date hereof. The company anticipates that subsequent events and developments will cause the companys views to change. However, while the company may elect to update these forward-looking statements at some point in the future, the company specifically disclaims any obligation to do so. These forward-looking statements should not be relied upon as representing the companys views as of any date subsequent to the date on which they were made.

Contacts:

InvestorsMaren KillackeyGeneration Bio541-646-2420mkillackey@generationbio.com

MediaAlicia WebbGeneration Bio847-254-4275awebb@generationbio.com

Lisa RaffenspergerTen Bridge Communications617-903-8783lisa@tenbridgecommunications.com

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Generation Bio Presents Data Demonstrating First Lipid Nanoparticle to Achieve Uniform Retinal Transduction and Tolerability via Sub-Retinal Delivery...

image:Dr. Ulrich G. Steidl view more

Credit: Albert Einstein College of Medicine

October 27, 2021(BRONX, NY)Ulrich G. Steidl, M.D., Ph.D., co-director of the Blood Cancer Institute and associate director of basic science at the Albert Einstein Cancer Center (AECC), has received a prestigious Outstanding Investigator Award from the National Cancer Institute (NCI). This award is accompanied by a seven-year, $7 million grant to study the molecular and cellular mechanisms that lead to two related blood diseases, myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). Dr. Steidl is one of only 17 recipients of this award in 2021, which is given to accomplished leaders in cancer research who provide significant contributions in their field. The ultimate goal of this research is to develop new treatments and cures for these usually fatal disorders.

Clinical outcomes in MDS and AML have not significantly improved over the past half-century, and cure rates remain below 15% for most patients, said Dr. Steidl, who is also professor of cell biology and of medicine and the Diane and Arthur B. Belfer Faculty Scholar in Cancer Research at Einstein. There is an urgent need to improve our understanding of how these diseases develop and to devise more effective therapies.

MDS and AML Explained

MDS occurs when blood-forming (hematopoietic) stem cells in the bone marrow acquire genetic and non-genetic irregularities, leading to the production of abnormal, dysfunctional blood cells, which out-compete healthy cells. Common symptoms include anemia, infections, and bleeding.

The incidence of MDS in the United States is unclear, with estimates ranging from 10,000 to 40,000 new cases annually; about one-third of MDS patients will go on to develop AML. Treatment for MDS is generally limited to preventing or reducing complications, particularly severe anemia. The only cure is a bone-marrow transplanta therapy not easily tolerated and therefore often reserved for the youngest, most resilient patients. However, most people diagnosed with MDS are elderly.

AML, like MDS, begins with abnormal bone marrow stem cells. But in AML, those cells, after becoming cancerous, proliferate rapidly and quickly spread to the blood and other hematopoietic organs, such as the bone marrow and spleen, and sometimes to other tissues, causing many of the same symptoms seen in MDS, plus others. AML is often fatal within just a few months and afflicts about 21,000 Americans each year. It is usually treated with chemotherapy. Bone-marrow transplantation can cure AML in some patients.

From Stem Cells to Cancer

Recent studies led by Dr. Steidl and his research team have shown that both MDS and AML arise from pre-leukemic stems cells (pre-LSCs), a subpopulation of blood-forming stem cells that have genetic and non-genetic aberrations. Certain varieties (clones) of these pre-LSCs go on to develop into leukemic stem cells (LSCs)cancer cells that are capable of self-renewal. These LSCs lead to sustained leukemia growth and are particularly resistant to drugs. We now know that the considerable diversity of pre-LSC clones affects the development, progression, and treatment resistance of both MDS and AML, said Dr. Steidl, one of the nations leading authorities on both diseases.

What causes some pre-LSCs but not others to become leukemic is not clear, but transcription factors are thought to play a key role. Transcription factors are proteins that turn specific genes on or off, determining a cells function by regulating the activity of genes. In the case of stem cells, transcription factors guide their differentiation into mature cells. Our recent work has shown that the actions of key transcription factors are dysregulated in pre-LSCs and LSCs, meaning that the transcription factors and the molecular programs they govern behave abnormally, he added.

Thanks to his new NCI grant, Dr. Steidl hopes to:

To accomplish these goals, Dr. Steidls research team will employ novel tools for analyzing stem cell clones in patients, as well as newly developed mouse models of pre-LSC progression to MDS and AML.

Developing New Cancer Therapies

The knowledge we gain from this research should enable us to develop drugs that target pre-LSCs and their aberrant transcription factors, said Dr. Steidl. Such an approach holds the promise of achieving lasting remissions and, ultimately, even cures. Hopefully, our understanding of the early events in the progression of MDS and AML may even allow us in the future to prevent these diseases by interrupting the transformation of pre-LSCs to LSCs before overt leukemia can occur.

The grant (R35CA253127) is titled Molecular and Cellular Regulation of Pre-Leukemic Stem Cells and their Therapeutic Targeting.

***

About Albert Einstein College of Medicine

Albert Einstein College of Medicine is one of the nations premier centers for research, medical education and clinical investigation. During the 2020-21 academic year, Einstein is home to 721 M.D. students, 178 Ph.D. students, 109 students in the combined M.D./Ph.D. program, and 265 postdoctoral research fellows. The College of Medicine has more than 1,900 full-time faculty members located on the main campus and at its clinical affiliates. In 2020, Einstein received more than $197 million in awards from the National Institutes of Health (NIH). This includes the funding of major research centers at Einstein in aging, intellectual development disorders, diabetes, cancer, clinical and translational research, liver disease, and AIDS. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. Its partnership with Montefiore, the University Hospital and academic medical center for Einstein, advances clinical and translational research to accelerate the pace at which new discoveries become the treatments and therapies that benefit patients. Einstein runs one of the largest residency and fellowship training programs in the medical and dental professions in the United States through Montefiore and an affiliation network involving hospitals and medical centers in the Bronx, Brooklyn and on Long Island. For more information, please visit einsteinmed.org, read our blog, followus on Twitter, like us on Facebook, and view us on YouTube.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Albert Einstein Cancer Center researcher receives NCI Outstanding Investigator Award to study two deadly blood diseases - EurekAlert

NEW YORK Delic Labs has entered into a comarketing partnership with GT Research to provide detailed genomic analyses related to commercially interesting traits found in cannabis and psychedelic mushrooms to Canadian producers, its parent company Delic said on Tuesday.

Services provided under the agreement include sample preparation, DNA extraction, whole-genome sequencing, and computational analyses.

Delic Labs, a subsidiary of Delic, focuses on identifying scalable legal psychedelic medicine opportunities. As one of Canada's few licensed psilocybin labs, it applies chemical analytics, metabolomic identification, and process optimization to the psychedelics industry.

GTR performs gene profiling and trait optimization services related to the production of cannabis and psychedelics.

"As the cannabis and psychedelic sectors grow, interest in genomic analysis of the underlying organisms is increasing. GTR is excited to offer its cutting-edge suite of capabilities in partnership with Delic, a pioneer in this space," Sam Proctor, cofounder and CEO of GTR, said in a statement.

"Delic is committed to researching and identifying the safest, highest quality psychedelic compounds for commercial use," said Matt Stang, cofounder and CEO of Delic.

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Delic Partners With GT Research for Genetic Analysis of Cannabis, Psychedelic Mushrooms - GenomeWeb

- Data from mouse models in hereditary tyrosinemia type 1 and Wilson disease showed in vivo edited hepatocytes expanded and substantially repopulated diseased livers, correlating with improvements in disease burden

Published: Oct. 21, 2021 at 7:00 AM CDT

LEXINGTON, Mass., Oct. 21, 2021 /PRNewswire/ --LogicBio Therapeutics, Inc.(Nasdaq:LOGC), a clinical-stage genetic medicine company, today is slated to present new preclinical data on its GeneRide platform at the European Society of Gene and Cell Therapy (ESGCT) Virtual Congress 2021, taking place October 19-22, 2021. The newly presented preclinical data further validate previous research in methylmalonic acidemia (MMA) and highlight selective advantage, a key feature of the GeneRide technology, in two additional indications characterized by intrinsic liver damage, hereditary tyrosinemia type 1 (HT1) and Wilson disease. Selective advantage enables edited hepatocytes carrying the corrective gene to survive and reproduce better than the endogenous mutated hepatocytes and to ultimately repopulate a part or whole of the diseased liver.

The data presented at ESGCT highlighted mouse models of the three liver indications treated with GeneRide vectors to deliver corrective genes. In all these models, expansion of the corrected healthy hepatocytes correlated with improved diseased markers.

In the HT1 models with acute liver damage, the data showed that GeneRide-corrected hepatocytes repopulated the entire liver within four weeks post-administration, replacing the diseased hepatocytes with corrected hepatocytes. HT1 mice are deficient in the gene encoding fumarylacetoacetate hydrolase (FAH), which is required to metabolize the amino acid tyrosine, resulting in the accumulation of toxic metabolites. HT1 mice that received the GeneRide-FAH vector were no longer reliant on the current standard of care for the disease, and demonstrated restored normal body growth, liver function, and undetectable succinyl acetone levels, one of the toxic metabolites that accumulates in patients with HT1. Compared to the current standard of care, treatment with the GeneRide vector resulted in superior succinyl acetone reduction and lower alfa-fetoprotein levels, a clinically validated biomarker for hepatocellular carcinoma and another risk factor for untreated HT1 patients.

Wilson disease results from a defect in copper transport, leading to toxic accumulation of copper and damage to tissues. In a Wilson disease mouse model, GeneRide-corrected hepatocytes repopulated the liver over time, and treated mice showed improvements in liver function, hepatomegaly, and urinary copper excretion.

"We are very excited to present these preclinical data in HT1 and Wilson disease. These data demonstrated repopulation of a diseased liver using our in vivo genome editing technology, resulting in GeneRide-edited corrected hepatocytes. The results in HT1 were particularly encouraging, demonstrating complete liver repopulation after treatment. These data further validate our technology and represent an important step as we continue on our mission to deliver the hope of genetic medicine to people impacted by devastating diseases," said Mariana Nacht, Ph.D., chief scientific officer of LogicBio.

Shengwen Zhang, director, molecular and cellular pharmacology at LogicBio, will give an oral presentation highlighting GeneRide's successful delivery of corrective genes in HT1, Wilson disease and MMA. Selective advantage and expansion of corrected hepatocytes was observed in these preclinical models, demonstrated by detection of increasing levels of a tagged albumin protein, albumin-2A, a technology-related biomarker indicating site-specific gene insertion and protein expression, as well as immunohistochemistry for the corrective protein in liver sections. Results also showed increasing levels of albumin-2A correlated with increased expression of the corrective gene and improved disease burden. The company believes that these data support the development of GeneRide vectors to durably treat multiple genetic diseases with liver dysfunction.

Additional posters presented at ESGCT highlight the Company's adeno-associated virus (AAV) technology platform advancements. One poster detailed the combination of LogicBio's proprietary plasmids and optimized transfection process in suspension HEK293 cells, which resulted in a 10- to 25-fold increase in titers using an LK03 capsid in 50L bioreactors. A separate poster highlighted recent development of anion exchange (AEX)-based high-pressure liquid chromatography, allowing LogicBio to use an analytical method to measure the percentage of full capsids in any given sample of AAV-LK03.

Additional information on the meeting can be found on the ESGCT website.

The oral presentation and posters will be made available on thePresentations section of the Company website at https://investor.logicbio.com/events-and-presentations/presentations.

AboutLogicBio Therapeutics

LogicBio Therapeuticsis a clinical-stage genetic medicine company pioneering genome editing and gene delivery platforms to address rare and serious diseases from infancy through adulthood. The company's genome editing platform, GeneRide, is a new approach to precise gene insertion harnessing a cell's natural DNA repair process potentially leading to durable therapeutic protein expression levels. The company's gene delivery platform, sAAVy, is an adeno-associated virus (AAV) capsid engineering platform designed to optimize gene delivery for treatments in a broad range of indications and tissues. The company is based inLexington, MA.For more information, visitwww.logicbio.com, which does not form a part of this release.

Forward-Looking Statements

Statements in this press release regarding LogicBio's strategy, plans, prospects, expectations, beliefs, intentions and goals are forward-looking statements within the meaning of theU.S.Private Securities Litigation Reform Act of 1995, as amended, including but not limited to statements regarding validation of previous research; the potential of the GeneRide platform; and the company's belief that preclinical data supports the development of GeneRide vectors to durably treat multiple genetic diseases with liver dysfunction. The terms "believe," "validate" and similar references are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Each forward-looking statement is subject to risks and uncertainties that could cause actual results to differ materially from those expressed or implied in such statement, including the risk that existing preclinical data may not be predictive of the results of ongoing or later preclinical and/or clinical results; the potential direct or indirect impact of the COVID-19 pandemic on our business, operations, and the markets and communities in which we and our partners, collaborators and vendors operate; manufacturing risks; risks associated with management and key personnel changes and transitional periods; the actual funding required to develop and commercialize product candidates, including for safety, tolerability, enrollment, manufacturing or economic reasons; the timing and content of decisions made by regulatory authorities; the actual time it takes to initiate and complete preclinical and clinical studies; the competitive landscape; changes in the economic and financial conditions of LogicBio; and LogicBio's ability to obtain, maintain and enforce patent and other intellectual property protection for LB-001 and any other product candidates. Other risks and uncertainties include those identified under the heading "Risk Factors" in LogicBio's Annual Report on Form 10-K for the year endedDecember 31, 2020and other filings that LogicBio may make with theU.S. Securities and Exchange Commissionin the future. These forward-looking statements (except as otherwise noted) speak only as of the date of this press release, and LogicBio does not undertake, and specifically disclaims, any obligation to update any forward-looking statements contained in this press release.

Investor Contacts: Laurence WattsGilmartin Group(619) 916-7620laurence@gilmartinir.com

Stephen JasperGilmartin Group(858) 525-2047stephen@gilmartinir.com

Media Contacts:Jenna UrbanBerry & Company Public RelationsW: 212-253-8881C: 203-218-9180jurban@berrypr.com

Bill BerryBerry & Company Public RelationsW: 212-253-8881C: 917-846-3862bberry@berrypr.com

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SOURCE LogicBio Therapeutics, Inc.

The above press release was provided courtesy of PRNewswire. The views, opinions and statements in the press release are not endorsed by Gray Media Group nor do they necessarily state or reflect those of Gray Media Group, Inc.

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LogicBio Therapeutics Announces Successful Repopulation of Diseased Livers in Mice with Healthy Corrected Hepatocytes in Two New Indications Using...

An artificial intelligence-based technology rapidly diagnoses rare disorders in critically ill children with high accuracy, according to a report by scientists from University of Utah Health and Fabric Genomics, collaborators on a study led by Rady Childrens Hospital in San Diego. The benchmark finding, published in Genomic Medicine, foreshadows the next phase of medicine, where technology helps clinicians quickly determine the root cause of disease so they can give patients the right treatment sooner.

This study is an exciting milestone demonstrating how rapid insights from AI-powered decision support technologies have the potential to significantly improve patient care, says Mark Yandell, co-corresponding author on the paper. Yandell is a professor of human genetics and Edna Benning Presidential Endowed Chair at U of U Health, and a founding scientific advisor to Fabric Genomics.

Worldwide, about 7 million infants are born with serious genetic disorders each year. For these children, life usually begins in intensive care. A handful of NICUs in the U.S., including at U of U Health, are now searching for genetic causes of disease by reading, or sequencing, the 3 billion DNA letters that make up the human genome. While it takes hours to sequence the whole genome, it can take days or weeks of computational and manual analysis to diagnose the illness.

For some infants, that is not fast enough, Yandell says. Understanding the cause of the newborns illness is critical for effective treatment. Arriving at a diagnosis within the first 24 to 48 hours after birth gives these patients the best chance to improve their condition. Knowing that speed and accuracy are essential, Yandells group worked with Fabric to develop the new Fabric GEM algorithm, which incorporates AI to find DNA errors that lead to disease.

In this study, the scientists tested GEM by analyzing whole genomes from 179 previously diagnosed pediatric cases from Radys Childrens Hospital and five other medical centers from across the world. GEM identified the causative gene as one of its top two candidates 92% of the time. Doing so outperformed existing tools that accomplished the same task less than 60% of the time.

Dr. Yandell and the Utah team are at the forefront of applying AI research in genomics, says Martin Reese, CEO of Fabric Genomics and a co-author on the paper. Our collaboration has helped Fabric achieve an unprecedented level of accuracy, opening the door for broad use of AI-powered whole-genome sequencing in the NICU.

GEM leverages AI to learn from a vast and ever-growing body of knowledge that has become challenging to keep up with for clinicians and scientists. GEM cross-references large databases of genomic sequences from diverse populations, clinical disease information and other repositories of medical and scientific data, combining all this with the patients genome sequence and medical records. To assist with the medical record search, GEM can be coupled with a natural language processing tool, Clinithinks CLiX focus, which scans reams of doctors notes for the clinical presentations of the patients disease.

Mark Yandell, Ph.D., professor of human genetics and Edna Benning Presidential Endowed Chair at U of U Health.

Critically ill children rapidly accumulate many pages of clinical notes, Yandell says. The need for physicians to manually review and summarize note contents as part of the diagnostic process is a massive time sink. The ability of Clinithinks tool to automatically convert the contents of these notes in seconds for consumption by GEM is critical for speed and scalability.

Existing technologies mainly identify small genomic variants that include single DNA letter changes, or insertions or deletions of a small string of DNA letters. By contrast, GEM can also find structural variants as causes of disease. These changes are larger and are often more complex. Its estimated that structural variants are behind 10% to 20% of genetic diseases.

To be able to diagnose with more certainty opens a new frontier, says Luca Brunelli, a neonatologist and professor of pediatrics at U of U Health, who leads a team using GEM and other genome analysis technologies to diagnose patients in the NICU. His goal is to provide answers to families who would have had to live with uncertainty before the development of these tools. He says these advances now provide an explanation for why a child is sick, enable doctors to improve disease management, and, at times, lead to recovery.

This is a major innovation, one made possible through AI, Yandell says. GEM makes genome sequencing more cost-effective and scalable for NICU applications. It took an international team of clinicians, scientists, and software engineers to make this happen. Seeing GEM at work for such a critical application is gratifying.

Fabric and Yandells team at the Utah Center for Genetic Discovery have had their collaborative research supported by several national agencies, including the National Institutes of Health and American Heart Association, and by the Us Center for Genomic Medicine. Yandell will continue to advise the Fabric team to further optimize GEMs accuracy and interface for use in the clinic.

The research was published online on Oct. 14, 2021, as Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Additional centers that participated in the study include Boston Childrens Hospital, Christian-Albrechts University of Kiel & University Hospital Schleswig-Holstein, HudsonAlpha Institute of Biotechnology, Tartu University Hospital and the Translational Genomics Research Institute (TGen).

Competing interests: Yandell has received stock options and consulting fees from Fabric Genomics, Inc. Reese is an employee of Fabric Genomics, Inc.

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AI quickly identifies genetic causes of disease in newborns | @theU - @theU

For Immediate Release

Chicago, IL October 15, 2021 Zacks.com announces the list of stocks featured in the Analyst Blog. Every day the Zacks Equity Research analysts discuss the latest news and events impacting stocks and the financial markets. Stocks recently featured in the blog include: CRISPR Therapeutics AG CRSP, Editas Medicine, Inc. EDIT, Sarepta Therapeutics, Inc. SRPT and Beam Therapeutics Inc. BEAM.

Gene therapy is one of the novel mechanisms of treatment that is attracting several large and small pharma companies. The gene therapies treat a disease by altering or turning off problematic genes and adding genes that help to fight or treat a disease. Scientists have been investigating ways to modify genes or replace faulty genes for the last few decades with a few gene therapies already in the market. Gene therapy is set to become one of the most vital spaces with high prospects in the biotech sector.

These therapies provide the flexibility to develop one-time treatment options for genetic or inherited diseases with limited or no approved therapies available. Moreover, gene-editing can directly affect cells the basic building blocks of living things and may help in developing highly effective therapies.

There are already a few FDA-approved gene therapies targeting different difficult indications. In a historic move, the FDA approved the first gene therapy, Novartis Kymriah, for treating acute lymphoblastic leukemia in 2017. This was followed by the FDA approval of two more gene therapies Gileads Yescarta and Roches Luxturna for oncology and eye disorder indications, respectively, in the same year.

The FDA approved two new gene therapies, Bristol-Myers Breyanzi and Abecma for treating different cancer indications, earlier in 2021. The majority of approved gene therapies have shown strong sales growth since their approval.

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Given the potential of gene therapies to treat complex diseases, the companies developing candidates using gene therapy that are a mix of large and small firms, are in focus. A successful medicine developed by any of these companies can generate annual revenues of $1 billion or more. Here we discuss four biotech stocks with promising gene therapy candidates in their pipeline.

CRISPR Therapeutics

The company is developing its lead pipeline candidate, CTX001, in collaboration with Vertex Pharmaceuticals in mid-stage studies as a potential treatment for transfusion-dependent beta thalassemia and sickle cell disease. The gene-editing therapy candidate previously demonstrated a consistent and sustained response to treatment in the given patient population in an ongoing phase I/II study.

CRISPR Therapeutics is actively seeking collaborations and leveraging its CRISPR/Cas9 gene-editing platform to make therapies for hemoglobinopathies, cancer, diabetes and other diseases.

Editas Medicine

The companys lead pipeline candidate is EDIT-101, which employs CRISPR gene editing to treat LCA10 a rare genetic illness that causes blindness. Editas is currently enrolling in the first pediatric cohort of the phase I/II BRILLIANCE study, which is evaluating EDIT-101 for LCA10. Editas is also pursuing the development of CRISPR candidates for eye diseases other than LCA10 including Usher Syndrome type 2A and recurrent ocular Herpes Simplex Virus type 1.

It is also designing novel medicines for non-malignant hematologic diseases, such as SCD and beta-thalassemia.

Sarepta Therapeutics

Sareptas lead gene therapy candidate is SRP-9001, an AAV-mediated micro-dystrophin gene therapy. The company initiated a pivotal clinical study earlier this year to evaluate it as a one-time treatment for Duchenne muscular dystrophy patients. The promising candidate has also led Roche to sign a collaboration deal with Sarepta.

The company plans to seek FDAs approval to start a pivotal study on its other gene therapy candidate, SRP-9003, in 2021 to evaluate it in patients with Limb-girdle muscular dystrophy (LGMD) type 2E. The company has several other pre-clinical and clinical-stage gene therapy candidates targeting additional indications like Rett Syndrome, cardiomyopathy, Emery-Dreifuss muscular dystrophy type 1, and multiple sclerosis.

Beam Therapeutics

The company has two pre-clinical gene editing candidates, BEAM-101 and BEAM-102, in its pipeline that are being developed as potential treatments for SCD. The company plans to file an investigational new drug application to the FDA seeking approval to start a clinical study on BEAM-101 in the second half of 2021.

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Want the latest recommendations from Zacks Investment Research? Today, you can download 7 Best Stocks for the Next 30 Days. Click to get this free reportBeam Therapeutics Inc. (BEAM) : Free Stock Analysis ReportSarepta Therapeutics, Inc. (SRPT) : Free Stock Analysis ReportEditas Medicine, Inc. (EDIT) : Free Stock Analysis ReportCRISPR Therapeutics AG (CRSP) : Free Stock Analysis ReportTo read this article on Zacks.com click here.Zacks Investment Research

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The Zacks Analyst Blog Highlights: CRISPR Therapeutics, Editas Medicine, Sarepta Therapeutics and Beam Therapeutics - Yahoo Finance

CAMBRIDGE, Mass., Oct. 12, 2021 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced preliminary financial results for its third quarter ended September 30, 2021.

Sarepta expects its net product revenues for the quarter to be approximately $166.9 million, compared to net product revenues of $121.4 million for the same period of 2020.

The Company had approximately $1.6 billion in cash, cash equivalents and investments as of September 30, 2021, compared to $1.9 billion as of December 31, 2020.

These preliminary financial results are the responsibility of management and have been prepared on a consistent basis with prior periods. The Company has not completed its financial closing procedures for the quarter ended September 30, 2021 and its actual results could be materially different from these preliminary financial results. In addition, the Companys independent registered public accounting firm has not reviewed, compiled, or performed any procedures with respect to these preliminary financial results.

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.

Forward-Looking StatementsIn order to provide Sareptas investors with an understanding of its current results and future prospects, this press release contains statements that are forward-looking. Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as believes, anticipates, plans, expects, will, may, intends, prepares, looks, potential, possible and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements relating to our expected financial results.

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These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Actual results could materially differ from those stated or implied by these forward-looking statements as a result of such risks and uncertainties. Known risk factors include the following: we have incurred operating losses since our inception and we may not achieve or sustain profitability; the estimates and judgments we make, or the assumptions on which we rely, in preparing our consolidated financial statements could prove inaccurate; Our revenues and operating results could fluctuate significantly, which may adversely affect our stock price; and those risks identified under the heading Risk Factors in our most recent Annual Report on Form 10-K for the year ended December 31, 2020 and most recent Quarterly Report on Form 10-Q filed with the SEC as well as other SEC filings made by the Company which you are encouraged to review.

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 Announces Preliminary Financial Results for the Third Quarter Ended September 30, 2021 - Yahoo Finance

Preimplantation genetic testing (PGT) of embryos during in vitro fertilization (IVF) enlightens patients of possible gene mutations prior to implantation. SGF's in-house team of researchers continues to explore PGT as a counseling tool to optimize care for generations to come.

WASHINGTON, Oct. 14, 2021 /PRNewswire-PRWeb/ -- National Breast Cancer Awareness Month reminds us that an estimated 700,000 people in the U.S. will be diagnosed with breast cancer this year alone, of which, up to 10 percent of cases are linked to an inherited gene mutation. Individuals and couples with known genetic diseases can turn to Shady Grove Fertility (SGF) to undergo in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects (PGT-M) to reduce the risk of passing genetic mutations to future offspring.

SGF can screen for over 280 recessive gene mutations, including diseases such as cystic fibrosis, Tay-Sachs disease, and spinal muscular atrophy. Additionally, patients at risk for dominant gene mutations, such as breast cancer or inherited forms of colon cancer, can have individualized testing for these diseases.

In 2019, SGF formed a partnership with breast cancer advocate and Previvor Founder, Allyn Rose, to educate patients of these interventions and the availability of fertility preservation prior to any cancer treatment.

"In the last letter that my mother wrote to me before her passing from metastatic breast cancer at age 50, she warned me of my family's predisposition to cancer and rare diseases, encouraging me to undergo in vitro fertilization (IVF) treatment to eliminate this disease," says Rose, a former Miss USA and Miss America contestant, model, and the recipient of the 21st Annual Congress on Women's Health's Advocacy Award and a Breast Cancer Summit Lifetime Achievement Award.

While Rose is not a carrier for the breast cancer gene, she is a carrier of a rare X-linked genetic mutation called Wiskott-Aldrich syndrome. Because of this genetic mutation, there would be a 50 percent chance that her future children would also become carriers of the disease. In October 2019, Rose started her IVF journey with Kate Devine, M.D., at SGF's K Street location in Washington, D.C., opting to undergo PGT-M to reduce the risk of having a child with an inherited condition. After 10 months of IVF treatment with SGF, Rose announced that she was pregnant in July 2020.

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Nearly two years after beginning their journey with SGF, Rose and her husband Christopher announced the birth of their daughter, Yve, on April 9, 2021.

"It was an incredibly fulfilling experience welcoming my daughter into the world because it felt as if my journey had come full circle," shares Rose. "For the last 10 years, I've worked as an advocate in the breast cancer community. I've spent years speaking on the importance of long-term perspective and highlighting my choice to undergo a preventive mastectomy in order to prolong my life and to conceive via IVF removing my rare genetic disease from my family tree. Now, I can hold my daughter in my arms and see that it was all worth it. Everything that I've worked towards has finally come to fruition."

"Allyn's story is a beacon of hope for women with increased cancer risk and other genetic risk factors," says Dr. Devine. "IVF with PGT-M is a safe and reliable means of fertility treatment for people who want to reduce risk of known genetic mutations in their children. I'm so happy that Allyn underwent treatment to reduce her own familial breast cancer risk and that she and that her baby girl is free of Wiskott-Aldrich gene mutations."

While Rose was proactive with preventive family-building measures, more awareness and education is needed on the topic. SGF is slated to present research findings on genetic testing in the infertility population for those at increased risk at the 2021 ASRM Scientific Congress and Expo, taking place in Baltimore from October 1721.

The study, which was honored with the ASRM 2021 Corporate Member Council In-Training Award, concludes that an overwhelming majority of eligible fertility patients are declining cancer genetic testing despite receiving focused genetic counseling regarding the recommendation to pursue testing as well as the opportunity to potentially minimize the cancer risk of future offspring.

"Prior to initiating fertility treatment, all patients who participated in the study received focused genetic counseling informing them that if one parent has a hereditary cancer-predisposing mutation, there is a 50% risk that any child will have it too," explains Dr. Devine, who also serves as SGF's Director of Research. "We will continue to research the underlying 'why' behind these decisions to evolve future care models that offer the safest and healthiest outcomes for our patients."

"Making the decision to pursue IVF with PGT is a very personal one," adds Rose. "But I am a strong proponent of pursuing all options available in order to give children the best possible opportunity to thrive in life. We are so fortunate to live in a world where we can now reduce the inheritance of deadly genetic diseases via IVF. It's such an incredible gift and I am fortunate to have had the opportunity to give my children a better outlook than I had."

SGF is also dedicated to helping patients with cancer receive fertility preservation care. SGF has a specially trained team that works specifically with people with cancer to ensure the fertility preservation process before cancer treatment can be expedited in order that cancer treatment can quickly begin. The oncofertility team at SGF helps to guide patients through each step of the treatment process, from finding ways to afford treatment to the actual medical procedure.

If you would like to learn more about SGF's oncofertility treatment options or to schedule an appointment, please call the New Patient Center at 1-888-761-1967 or complete this brief online form.

About Shady Grove Fertility (SGF) SGF is a leading fertility and IVF center of excellence with more than 100,000 babies born. With 43 locations, including new locations in Colorado and Norfolk, VA, as well as throughout CO, FL, GA, MD, NY, PA, VA, D.C., and Santiago, Chile, SGF offers patients virtual physician consults, delivers individualized care, accepts most insurance plans, and makes treatment more affordable through innovative financial options, including 100% refund guarantees. More physicians refer their patients to SGF than any other center. SGF is among the founding partner practices of US Fertility, the largest physician-owned, physician-led partnership of top-tier fertility practices in the U.S. Call 1-888-761-1967 or visit ShadyGroveFertility.com.

Media Contact

Jean Dzierzak, Shady Grove Fertility, 301-545-1375, jean.dzierzak@sgfertility.com

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Advancements in reproductive medicine available at Shady Grove Fertility (SGF) can reduce the inheritance of genetic diseases like breast cancer -...

News Release

Monday, October 11, 2021

NIH-funded research reveals clinical trial candidate for those with genetic risk.

A commonly available oral diuretic pill approved by the U.S. Food and Drug Administration may be a potential candidate for an Alzheimers disease treatment for those who are at genetic risk, according to findings published in Nature Aging. The research included analysis showing that those whotook bumetanide a commonly used and potent diuretic had a significantly lower prevalence of Alzheimers disease compared to those not taking the drug. The study, funded by the National Institute on Aging (NIA), part of the National Institutes of Health, advances a precision medicine approach for individuals at greater risk of the disease because of their genetic makeup.

The research team analyzed information in databases of brain tissue samples and FDA-approved drugs, performed mouse and human cell experiments, and explored human population studies to identify bumetanide as a leading drug candidate that may potentially be repurposed to treat Alzheimers.

Though further tests and clinical trials are needed, this research underscores the value of big data-driven tactics combined with more traditional scientific approaches to identify existing FDA-approved drugs as candidates for drug repurposing to treat Alzheimers disease, said NIA Director Richard J. Hodes, M.D.

Knowing that one of the most significant genetic risk factors for late-onset Alzheimers is a form of the apolipoprotein E gene called APOE4, researchers analyzed data derived from 213 brain tissue samples and identified the Alzheimers gene expression signatures, the levels to which genes are turned on or off, specific to APOE4 carriers. Next, they compared the APOE4-specific Alzheimers signatures against those of more than 1,300 known FDA-approved drugs. Five drugs emerged with a gene expression signature that the researchers believed might help neutralize the disease. The strongest candidate was bumetanide, which is used to treat fluid retention often caused by medical problems such as heart, kidney, and liver disease.

The researchers validated the data-driven discoveries by testing bumetanide in both mouse models of Alzheimers and induced pluripotent stem cell-derived human neurons. Researchers found that treating mice which expressed the human APOE4 gene reduced learning and memory deficits. The neutralizing effects were also confirmed in the human cell-based models, which led to the hypothesis that people already taking bumetanide should have lower rates of Alzheimers. To test this, the team pared down electronic health record data sets from more than 5 million people to two groups: adults over 65 who took bumetanide and a matching group who did not take bumetanide. The analysis showed that those who had the genetic risk and took bumetanide had a ~35% to 75% lower prevalence of Alzheimers disease compared to those not taking the drug.

We know that Alzheimers disease will likely require specific types of treatments, perhaps multiple therapies, including some that may target an individuals unique genetic and disease characteristics much like cancer treatments that are available today, said Jean Yuan, M.D., Ph.D., Translational Bioinformatics and Drug Development program director in the NIA Division of Neuroscience. The data in this paper make a good case to conduct a proof-of-concept trial of bumetanide in people with genetic risk.

The research team was led by scientists at Gladstone Institutes, San Francisco, the University of California, San Francisco, and the Icahn School of Medicine at Mount Sinai, New York City. This group is one of more than 20 teams supported by NIA through a program encouraging the researcher community to seek, through big data approaches, drugs that could potentially be repurposed.

The research was funded by NIH grants R01AG057683, R01AG048017, F31AG058439, R01AG061150, F31AG057150, R21TR001743, and K01ES028047.

NIA leads NIHs systematic planning, development, and implementation of research milestones to achieve the goal of effectively treating and preventing Alzheimers and related dementias. This research is related to Milestone 7.B, Initiate research programs for translational bioinformatics and network pharmacology to support rational drug repositioning and combination therapy from discovery through clinical development.

About the National Institute on Aging (NIA): NIA leads the U.S. federal government effort to conduct and support research on aging and the health and well-being of older people. Learn more about age-related cognitive change and neurodegenerative diseases via NIAs Alzheimer's and related Dementias Education and Referral (ADEAR) Center website. Visit the main NIA website for information about a range of aging topics, in English and Spanish, and stay connected.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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Precision medicine data dive shows water pill may be viable to test as Alzheimer's treatment - National Institutes of Health