StemCell Therapy

Dr Robert Nagourneyis the founder and medical director of Nagourney Cancer Institute, and clinical professor at the University of California, Irvine School of Medicine. Nagourney is having success investigating whether a unique combination of existing and approved cancer drugs might be more effective compared to off-the-shelf treatments. Technology Networks recently had the pleasure of speaking with Nagourney to learn more about his work focused on repurposing drugs. He discusses the challenges and benefits of exploring new uses for drugs that are outside the scope of their original indication. He also shares a case whereby a cancer patient was recently treated with a tailored drug combination and explains how it was possible to design an effective personalized treatment strategy.Laura Lansdowne (LL): Can you touch on the importance of physiological relevance when testing therapeutics inin vitrosystems, has there been any key advances in cell culture technologies that have been particularly effective at improving this?Robert Nagourney (RN): The wide use of genomic profiling by next-generation sequencing (NGS) has provided targetable mutations in a number of cancers including chronic myeloid leukemia (CML), several forms of lung cancer, kidney cancersand melanoma. However, the majority of human tumors do not reveal actionable mutations. Today these tumors are treated with cytotoxic chemotherapy or experimental drugs with no attempt to select among options and offer combinations that are patient specific. To address patients needs we developed the Ex Vivo Analysis of Programmed Cell Death or EVA/PCD platform.Two fundamental advances have led to the successful application of our EVA/PCD technology for the prediction of patient response over older technologies.

LL: Could you tell us more about your work repurposing drugs?RN: Drugs do not know what diseases they were invented for. This not only applies to drugs for cancer but to other drugs with biological effect that can influence cancer cell behavior.LL: In yourblogyoushare the story of a Stage 4 gastroesophageal cancer patient that was recently treated with a tailored drug combination. Could you elaborate on the genetic clue that helped design an effective combination therapy?RN: The patient was found sensitive to a drug that targets EGFR a cell signaling pathway. However,he did not have a mutation in EGFR. As such his doctors did not anticipate a likelihood of benefit from drugs that target EGFR and did not offer him these agents. In our EVA/PCD we found activity for these drugs. When we reviewed his gene profile it showed an EGFR amplification (not a mutation). Since EGFR amplificationis not considered a target, no drug was offered but with thediscriminating (functional) capability of the EVA/PCD assay, he indeed was that rare person with an EGFR amplification who would actually likely respond and when we gave it to him he did Completely!LL: When repurposing a drug, how careful do we need to be when considering existing safety and efficacy data? E.g. data that were obtained in previous studies, fordifferentindications, in adifferentstudy population (age/sex/ethnicity, etc.).RN: Any novel combination runs some risk, but many repurposed drugs are already in wide use, and very often are used in combination with many other drugs. I am not a proponent of random combinations (however many commercial firms do offer them) but instead like to examine the patient's likelihood of benefit when we do suggest a drug or combination.LL: What measures/approaches should be taken when considering off-label use of a drug?RN: Usually these drugs are well known for their modes of action and toxicity. The literature provides ample information on drugdrug interactions and usually can be consulted if an unusual combination is being considered.LL: There is currently no regulatory requirement to know the molecular target of a drug, as long the drug is shown to be safe and efficacious. How much of a drawback does this gap in knowledge present, in terms of repurposing existing drugs for other indications?RN: Actually, many new drugs come with companion diagnostics. That is, you can only get a TRK inhibitor if you are shown to carry and NTRK fusion. Where functional platforms can be immensely helpful is the vast amount of genomic regulation and cellular gene activity that cannot be identified at a genetic level.One perfect example in the oncogene MYC. This super-regulator that functions epigenetically is abnormally active in up to 70% of cancers, it regulates over 3600 individual human genes (15% of the human genome) and isalmost never mutated ever. Thus, it is only by probing its activities at a functional level that you know to target it therapeutically. Gene profiles are useless.Robert Nagourney was speaking with Laura Elizabeth Lansdowne, Senior Science Writer for Technology Networks.Interviewee BiographyDr Nagourney is a native of Connecticut and a graduate of McGill University School of Medicine and became disenchanted with the trial and error approach that he witnessed during fellowships at Georgetown and The Scripps Institute.Nagourney is currently a practicing oncologist and triple board certified in Internal Medicine, Medical Oncology and Hematology. Among his many accomplishments, as co-investigator on national cooperative trials. He is recognized for the introduction of Cisplatin/Gemcitabine doublets in the treatment of advanced ovarian and breast cancers.With more than 20 years of experience in human tumor primary culture analyses, Dr Nagourney has authored more than 100 manuscripts, book chapters and abstracts including publications in the Journal of Clinical Oncology, Gynecologic Oncology, the Journal of the National Cancer Institute and British Journal of Cancer.

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Repurposing and Combining Drugs An Effective Cancer Treatment Strategy - Technology Networks

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, announced today positive results from the 6-month primary analysis of the ILLUMINATE-B Phase 3 pediatric study of lumasiran, an investigational, subcutaneously administered RNAi therapeutic targeting hydroxyacid oxidase 1 (HAO1) the gene encoding glycolate oxidase (GO) in development for the treatment of adults and children with primary hyperoxaluria type 1 (PH1). Results were presented from ILLUMINATE-B, as well as new 12-month results from the ILLUMINATE-A pivotal Phase 3 study and the ongoing Phase 2 open-label extension (OLE) study, at the American Society of Nephrology (ASN) Kidney Week 2020 held as a virtual event on October 22-25.

Lumasiran is under review by the Food and Drug Administration (FDA) and received a Positive Opinion from the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) on October 16, 2020. If approved, lumasiran will be marketed as OXLUMOTM.

We are delighted to present these positive data from ILLUMINATE-B that reinforce previously reported clinical study findings for lumasiran and underscore its potential to be an important treatment option for patients of all ages with PH1, a devastating and potentially fatal disease with no approved pharmaceutical treatment options, said Pritesh J. Gandhi, PharmD., Vice President and General Manager, Lumasiran Program at Alnylam. Based on longer term follow-up from the ILLUMINATE-A and Phase 2 open-label extension studies, investigators presented data showing enduring reductions of urinary oxalate the disease-causing metabolite in PH1. Moreover, we believe that newly presented results of exploratory endpoints provide preliminary evidence that reductions in urinary oxalate may lead to reduced rates of renal stone events and improve nephrocalcinosis in some patients.

Pathologic overproduction of oxalate by the liver is the root cause of morbidity and mortality associated with PH1. There is strong evidence in the literature to suggest that levels of urinary oxalate correlate with clinical outcomes in patients with this ultra-rare disease. With that in mind, I am pleased to see the reduction in urinary oxalate levels in response to lumasiran in all three studies presented at this years meeting. More broadly, I am encouraged by the promise that these findings hold for my patients living with this condition, said Jeffrey M. Saland, M.D., Professor and Chief, Pediatric Nephrology and Hypertension, Jack and Lucy Clark Department of Pediatrics, Mount Sinai Kravis Childrens Hospital, New York City, and Investigator on the ILLUMINATE-A trial. With the sustained reductions in urinary oxalate during long-term treatment and the exploratory renal stone and nephrocalcinosis data presented, I am hopeful about the potential of lumasiran to have a positive impact on the severe clinical manifestations that individuals with PH1 suffer.

ILLUMINATE-B 6-Month Results

Alnylam presented positive efficacy and safety results from the 6-month primary analysis (N=18) of the ILLUMINATE-B Phase 3 study of lumasiran in infants and children under the age of 6, with the youngest patient enrolled at 3 months of age. The efficacy results and safety profile of lumasiran were found to be similar to those observed in adults and children 6 years or older in the ILLUMINATE-A study. Treatment with lumasiran in ILLUMINATE-B led to a 72 percent mean reduction in spot urinary oxalate:creatinine ratio from baseline to Month 6, averaged across months 3 to 6 the primary endpoint of the study. Lumasiran also demonstrated positive results across secondary endpoints, including proportion of patients (9/18 or 50 percent) achieving urinary oxalate levels at or below 1.5 times ULNa.

Preliminary analysis of exploratory endpoints indicated improvements in nephrocalcinosis in 8 out of 18 patients (44 percent), while estimated glomerular filtration rates (eGFR) remained stable. At baseline, 14 of 18 patients had nephrocalcinosis. After 6 months of lumasiran treatment, no patients worsened, 10 remained stable, and eight showed bilateral (3 out of 8) or unilateral (5 out of 8) improvements in nephrocalcinosis. As expected, given the 6-month duration of the study, there was no change in the rate of renal stone events (RSEs)b .

Lumasiran had an acceptable safety profile in infants and young children under the age of six. There were no deaths, severe adverse events, discontinuations of treatment or withdrawals from the study. One patient had a serious adverse event (SAE) of viral infection that was considered not related to lumasiran by the study investigator. The most common drug-related adverse events (AEs) were mild and transient injection site reactions (ISRs) reported in 3 of 18 (17 percent) patients. No clinically relevant changes in laboratory measures (including liver function tests), vital signs, or electrocardiograms related to lumasiran were observed.

ILLUMINATE-A 12-Month Results

As of the data cut-off date of May 1, 2020, results from the extension period of the ILLUMINATE-A Phase 3 study showed that patients initially randomized to lumasiran in the 6-month double-blind (DB) period who continued treatment with lumasiran through Month 12 (lumasiran/lumasiran; N=24) maintained their reduction in 24-hour urinary oxalate excretion, with a 64 percent mean reduction relative to baseline. The majority (88 percent) of patients in this group reached normal or near-normal levels (at or below 1.5x ULN)a of urinary oxalate. In patients who were originally randomized to placebo in the DB period but crossed over to lumasiran (placebo/lumasiran; N=13), treatment with lumasiran led to a 57 percent mean reduction in 24-hour urinary oxalate excretion after six months of treatment; 77 percent of these patients reached urinary oxalate levels at or below 1.5 x ULN.

In an exploratory analysis, reductions in oxalate levels were associated with lower rates of RSEb in lumasiran treated patients in both lumasiran/lumasiran and placebo/lumasiran groups.

The safety profile of lumasiran remained consistent with ongoing dosing (233 doses) and 9.9 months of mean exposure (range 2.8-15.1 months). There were no deaths, SAEs, treatment interruptions or discontinuations related to lumasiran. One patient had an SAE of urosepsis that was not related to study drug. Mild ISRs were the most common drug-related AE reported in at least 10 percent of patients. Most common ISR symptoms included erythema, pain, pruritus, or swelling at the injection site. No clinically relevant changes in laboratory measures (including liver function tests), vital signs, and electrocardiograms related to lumasiran were observed.

Phase 2 OLE Results

Additional positive data were also presented from the ongoing Phase 2 OLE study of lumasiran demonstrating the long-term efficacy and safety of lumasiran with up to 22 months of exposure (range: 11-22 months; median: 15 months). As of January 30, 2020, data cut-off date, patients continued to experience sustained reductions in urinary oxalate excretion, with similar responses across dosage regimens. Specifically, ongoing treatment with lumasiran resulted in 74 percent (range: 35.788.3 percent) mean maximal reduction in urinary oxalate relative to Phase 1/2 baseline (N=17), and 17/18 (94 percent) of patients achieved normal or near-normal levels of urinary oxalate. Mean eGFR levels remained stable over time.

Lumasiran had an acceptable safety profile. There were no deaths, severe AEs, or AEs leading to discontinuation of treatment. There were no drug-related SAEs. The most common drug-related AEs were mild ISRs. No clinically significant laboratory changes related to lumasiran were reported.

Post-hoc analysis of renal stones showed that long-term treatment with lumasiran resulted in a decline in the number of patients experiencing renal stones. In the 12 months prior to study entry, 6/20 patients (30 percent) reported renal stones. In the Phase 1/2 Part B study where renal stones were captured as AEs, 4/20 patients (20 percent) reported AEs of renal stones during the initial 5-month period, and no patients (0/20) reported AEs of renal stones during the Phase 2 OLE with up to 22 months of treatment.

Additional findings on real-world disease manifestations and healthcare resource use among patients with PH1 were also presented based on a retrospective multinational study of physician chart reviews.

To view all data presented by Alnylam at ASN Kidney Week, please visit http://www.alnylam.com/capella.

Lumasiran has received U.S. and EU Orphan Drug Designations, Breakthrough Therapy and Rare Pediatric Disease Designations from the FDA, and a Priority Medicines (PRIME) designation from the EMA. Alnylam has filed a New Drug Application (NDA) for lumasiran with the FDA, which has granted a Priority Review for the NDA and has set an action date of December 3, 2020 under the Prescription Drug User Fee Act (PDUFA). Following the recent Positive Opinion from the CHMP, the Company plans to initiate commercialization of lumasiran in the EU under the tradename OXLUMO, upon marketing authorization from the European Commission.

The Company is also conducting ILLUMINATE-C a global open-label Phase 3 study of lumasiran in PH1 patients of all ages with advanced renal disease, including patients on dialysis, with topline results expected in 2021.

a Upper limit of normal or ULN = 0.514 mmol/24 hr/1.73m2; 1.5 x ULN = 0.771 mmol/24 hr/1.73 m2b A renal stone event (RSE) is defined as an event that includes at least one of the following: visit to healthcare provider because of a renal stone, medication for renal colic, stone passage, or macroscopic hematuria due to a renal stone

About ILLUMINATE-A Phase 3 Study

ILLUMINATE-A (NCT03681184) is a six-month randomized, double-blind, placebo-controlled, global, multicenter Phase 3 study (with a 54-month extension period) to evaluate the efficacy and safety of lumasiran in 39 patients, age six and older, with a documented diagnosis of PH1. Patients were randomized 2:1 to receive three monthly doses of lumasiran or placebo followed by quarterly doses at 3 mg/kg. The primary endpoint was the percent change in 24-hour urinary oxalate excretion from baseline to the average of months 3 to 6 in the patients treated with lumasiran as compared to placebo. Treatment arms were stratified at randomization based upon mean 24-hour urinary oxalate during screening (1.7 or >1.7 mmol/24hr/1.73m2). Key secondary and exploratory endpoints were designed to evaluate additional measures of urinary oxalate, plasma oxalate, estimated glomerular filtration rate (eGFR), nephrocalcinosis, renal stone events, safety and tolerability.

About ILLUMINATE-B Phase 3 Study

ILLUMINATE-B (NCT03905694) is a single arm, open-label, multicenter Phase 3 trial to evaluate the efficacy and safety of lumasiran in 18 patients with PH1 under the age of six (range: 3-72 months), with an estimated glomerular filtration rate (eGFR) of greater than 45 mL/min/1.73 m2 or normal serum creatinine if less than 12 months old, at nine study sites, in five countries around the world. Lumasiran was administered according to a weight-based dosing regimen. The primary efficacy endpoint of the study was the percent change from baseline to Month 6 in spot urinary oxalate:creatinine ratio averaged across Months 3 to 6. At six months, relative to baseline, lumasiran demonstrated a clinically meaningful reduction in spot urinary oxalate:creatinine ratio. Reduction of urinary oxalate relative to baseline was consistent across all three body weight categories (less than 10 kg; 10 kg to less than 20 kg, and 20 kg or higher).

About Lumasiran

Lumasiran is an investigational, subcutaneously administered RNAi therapeutic targeting hydroxyacid oxidase 1 (HAO1) in development for the treatment of primary hyperoxaluria type 1 (PH1). HAO1 encodes glycolate oxidase (GO). Thus, by silencing HAO1 and depleting the GO enzyme, lumasiran inhibits production of oxalate the metabolite that directly contributes to the pathophysiology of PH1. Lumasiran utilizes Alnylam's Enhanced Stabilization Chemistry (ESC)-GalNAc-conjugate technology, which enables subcutaneous dosing with increased potency and durability and a wide therapeutic index. Lumasiran has received both U.S. and EU Orphan Drug Designations, Breakthrough Therapy Designation from the U.S. Food and Drug Administration (FDA), and Priority Medicines (PRIME) designation from the European Medicines Agency (EMA). Lumasiran is under review by the U.S. FDA and received a Positive Opinion from the Committee for Medicinal Products for Human Use (CHMP) of the EMA.

About Primary Hyperoxaluria Type 1 (PH1)

PH1 is an ultra-rare disease in which excessive oxalate production results in the deposition of calcium oxalate crystals in the kidneys and urinary tract and can lead to the formation of painful and recurrent kidney stones and nephrocalcinosis. Renal damage is caused by a combination of tubular toxicity from oxalate, calcium oxalate deposition in the kidneys, and urinary obstruction by calcium oxalate stones. Compromised kidney function exacerbates the disease as the excess oxalate can no longer be effectively excreted, resulting in subsequent accumulation and crystallization in bones, eyes, skin, and heart, leading to severe illness and death. Current treatment options are very limited and include frequent renal dialysis or combined organ transplantation of liver and kidney, a procedure with high morbidity that is limited due to organ availability. Although a small minority of patients respond to vitamin B6 therapy, there are no approved pharmaceutical therapies for PH1.

About RNAi

RNAi (RNA interference) is a natural cellular process of gene silencing that represents one of the most promising and rapidly advancing frontiers in biology and drug development today. Its discovery has been heralded as a major scientific breakthrough that happens once every decade or so, and was recognized with the award of the 2006 Nobel Prize for Physiology or Medicine. By harnessing the natural biological process of RNAi occurring in our cells, a new class of medicines, known as RNAi therapeutics, is now a reality. Small interfering RNA (siRNA), the molecules that mediate RNAi and comprise Alnylam's RNAi therapeutic platform, function upstream of todays medicines by potently silencing messenger RNA (mRNA) the genetic precursors that encode for disease-causing or disease pathway proteins, thus preventing them from being made. This is a revolutionary approach with the potential to transform the care of patients with genetic and other diseases.

About Alnylam

Alnylam (Nasdaq: ALNY) is leading the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare genetic, cardio-metabolic, hepatic infectious, and central nervous system (CNS)/ocular diseases. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach for the treatment of a wide range of severe and debilitating diseases. Founded in 2002, Alnylam is delivering on a bold vision to turn scientific possibility into reality, with a robust RNAi therapeutics platform. Alnylams commercial RNAi therapeutic products are ONPATTRO (patisiran), approved in the U.S., EU, Canada, Japan, Brazil, and Switzerland, and GIVLAARI (givosiran), approved in the U.S, EU, and Brazil. Alnylam has a deep pipeline of investigational medicines, including six product candidates that are in late-stage development. Alnylam is executing on its Alnylam 2020 strategy of building a multi-product, commercial-stage biopharmaceutical company with a sustainable pipeline of RNAi-based medicines to address the needs of patients who have limited or inadequate treatment options. Alnylam is headquartered in Cambridge, MA. For more information about our people, science and pipeline, please visit http://www.alnylam.com and engage with us on Twitter at @Alnylam or on LinkedIn.

Alnylam Forward Looking Statements

Various statements in this release concerning Alnylam's future expectations, plans and prospects, including, without limitation, Alnylams views with respect to the safety and efficacy of lumasiran as demonstrated in the ILLUMINATE-B Phase 3 study in children under the age of six, including infants, as well as in the 12-Month extension period of the ILLUMINATE-A pivotal study and in results from the ongoing Phase 2 OLE study, the potential for lumasiran to have a favorable impact on PH1 disease manifestations and overall disease progression and management across all ages, Alnylam's expectations with respect to the review timelines for the lumasiran NDA by the FDA and expectations regarding EMA approval following the Positive Opinion from the CHMP, Alnylams plans, assuming favorable regulatory reviews, to bring lumasiran to patients with PH1 around the world under the tradename OXLUMO, expectations regarding the timing of topline results from ILLUMINATE-C, and expectations regarding the continued execution on its Alnylam 2020 guidance for the advancement and commercialization of RNAi therapeutics, constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. Actual results and future plans may differ materially from those indicated by these forward-looking statements as a result of various important risks, uncertainties and other factors, including, without limitation: the direct or indirect impact of the COVID-19 global pandemic or any future pandemic, such as the scope and duration of the outbreak, government actions and restrictive measures implemented in response, material delays in diagnoses of rare diseases, initiation or continuation of treatment for diseases addressed by Alnylam products, or in patient enrollment in clinical trials, potential supply chain disruptions, and other potential impacts to Alnylams business, the effectiveness or timeliness of steps taken by Alnylam to mitigate the impact of the pandemic, and Alnylams ability to execute business continuity plans to address disruptions caused by the COVID-19 or any future pandemic; Alnylam's ability to discover and develop novel drug candidates and delivery approaches and successfully demonstrate the efficacy and safety of its product candidates; the pre-clinical and clinical results for its product candidates, including lumasiran, which may not be replicated or continue to occur in other subjects or in additional studies or otherwise support further development of product candidates for a specified indication or at all; actions or advice of regulatory agencies, which may affect the design, initiation, timing, continuation and/or progress of clinical trials or result in the need for additional pre-clinical and/or clinical testing; delays, interruptions or failures in the manufacture and supply of its product candidates, including lumasiran, or its marketed products; obtaining, maintaining and protecting intellectual property; intellectual property matters including potential patent litigation relating to its platform, products or product candidates; obtaining regulatory approval for its product candidates, including lumasiran, and maintaining regulatory approval and obtaining pricing and reimbursement for its products, including ONPATTRO and GIVLAARI; progress in continuing to establish a commercial and ex-United States infrastructure; successfully launching, marketing and selling its approved products globally, including ONPATTRO and GIVLAARI, and achieving net product revenues for ONPATTRO within its revised expected range during 2020; Alnylams ability to successfully expand the indication for ONPATTRO in the future; competition from others using technology similar to Alnylam's and others developing products for similar uses; Alnylam's ability to manage its growth and operating expenses within the ranges of guidance provided by Alnylam through the implementation of further discipline in operations to moderate spend and its ability to achieve a self-sustainable financial profile in the future without the need for future equity financing; Alnylams ability to establish and maintain strategic business alliances and new business initiatives; Alnylam's dependence on third parties, including Regeneron, for development, manufacture and distribution of certain products, including eye and CNS products, Ironwood, for assistance with the education about and promotion of GIVLAARI, and Vir for the development of ALN-COV and other potential RNAi therapeutics targeting SARS-CoV-2 and host factors for SARS-CoV-2; the outcome of litigation; the risk of government investigations; and unexpected expenditures; as well as those risks more fully discussed in the "Risk Factors" filed with Alnylam's most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) and in other filings that Alnylam makes with the SEC. In addition, any forward-looking statements represent Alnylam's views only as of today and should not be relied upon as representing its views as of any subsequent date. Alnylam explicitly disclaims any obligation, except to the extent required by law, to update any forward-looking statements.

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Alnylam Presents Positive Results from ILLUMINATE-B Phase 3 Study in Pediatric Patients with Primary Hyperoxaluria Type 1 at the American Society of...

Four UC San Francisco faculty members are among the 100 new national and international members elected this year to the National Academy of Medicine (NAM), one of the highest honors in the fields of health of medicine.

Membership in the NAM recognizes individuals who have demonstrated outstanding professional achievements and commitment to service in the medical sciences, health care and public health.

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

This year, this distinguished group welcomes four UCSF faculty:

Mark Anderson, MD, PhD

Anderson is a physician-scientist who cares for patients with autoimmune endocrine diseases such as type 1 diabetes. This focus extends into the lab, where his research examines the genetic control of autoimmune diseases to better understand the mechanisms by which immune tolerance is broken.

In particular, his lab is interested in how the thymus trains the immune system to distinguish proteins made by the body itself from proteins made by invasive pathogens. For example, they have shown that some thymus cells produce self proteins and others even differentiate into skin or gut cells to test newborn T cells for autoimmune tendencies. Understanding these mechanisms could one day lead to medical interventions that suppress or enhance immune activity.

Anderson is a member of the UCSF Diabetes Center and the UCSF Bakar ImmunoX Initiative, director of the UCSF Medical Scientist Training Program, and current president of the Federation of Clinical Immunology.

Edward Chang, MD

Chang is a neurosurgeon-scientist and chair of the Department of Neurological Surgery. He specializes in advanced brain mapping methods to preserve crucial areas for language and cognitive functions in the brain. Chang is a member of the UCSF Weill Institute for Neurosciences and co-director of the Center for Neural Engineering and Prostheses, a collaboration between UCSF and UC Berkeley.

Changs research focuses on the brain mechanisms for human behaviors such as speech and mood. For example, by studying the brain activity associated with the physical movements of speaking, his team was able to teach a computer to decode and transform these brain signals into synthetic speech. This technology has the potential to eventually lead to speech prosthetics for paralyzed people who have lost the ability to speak.

Chang completed his medical degree and residency in neurosurgery at UCSF and joined the faculty in 2010. He is the inaugural Bowes Biomedical Investigator at UCSF, an HHMI Faculty Scholar, and a recipient of the NIH Directors New Innovator Award and the Blavatnik National Award for Life Sciences.

Aleksandar Rajkovicpic, MD, PhD

Rajkovic is a medical geneticist who specializes in basic and translational research in reproductive genomics. His lab investigates the genetic underpinnings of the formation and differentiation of gametes and reproductive tracts and the role of these genes in human disease. For example, they have discovered numerous genes that regulate ovarian follicle formation and the growth of healthy eggs, and may be involved in infertility. Another focus is the genetics of fibroid tumors, which are found in nearly a quarter of women by age 45, and therapies to eliminate such tumors. He has been at the forefront of innovative technologies to diagnose and reveal the mechanisms of reproductive pathologies.

Rajkovic joined UCSF in 2018 as the first-ever Chief Genomics Officer of UCSF Health. In this role, he directs the activities of clinical genomics laboratories across UCSF and leads efforts to apply genetics and genomics clinical care throughout the health system.

Robert Wachter, MD

Wachter is a hospitalist and health care thought leader who has chaired the Department of Medicine since 2016. The department leads the nation in National Institutes of Health grants and consistently ranks among the nations best. He has authored more than 300 articles and six books and is a frequent contributor to the New York Times and Wall Street Journal. Recently, he has become known for organizing the widely viewed Department of Medicine COVID Grand Rounds and his informative tweets about the COVID-19 pandemic.

In 1996, Wachter coined the term hospitalist a physician who specializes in inpatient care and is often considered the founder of the hospitalist field, the fastest growing specialty in modern medical history. He is also a leading expert on patient safety, health care quality and digital health. He has served as president of the Society of Hospital Medicine and chair of the American Board of Internal Medicine.

New members to the NAM are elected by current active members. This years elections bring the number ofpeople from UCSF named as members in the NAM to 108.

The National Academy of Medicine, established in 1970 as the Institute of Medicine, is an independent organization of eminent professionals from diverse fields including health and medicine; the natural, social, and behavioral sciences; and beyond. It serves alongside the National Academy of Sciences and the National Academy of Engineering as an adviser to the national and the international community.

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4 UCSF Faculty Elected to the National Academy of Medicine for 2020 - UCSF News Services

The Office of Research and the School of Medicine had planned to introduce their Oct. 30 speaking guest as a professor and the founder and director of the Innovative Genomics Institute at UC Berkeley, and a CRISPR pioneer.

Since being booked for the Distinguished Speaker Series in Research and Innovation, however, Jennifer Doudna has added a new title: Nobel laureate.

She and Emmanuelle Charpentier, director of the Max Planck Institute for Infection Biology, won the Nobel Prize in chemistry Oct. 7 for their co-development of CRISPR-Cas9, a genome editing tool that has revolutionized biomedicine and agriculture.

Whats CRISPR? Jennifer Doudna explains in a Radiolab podcast.

Doudna became the first woman on the UC Berkeley faculty to win a Nobel, and she and Charpentier are the first women to share a Nobel in the sciences.

Doudnas topic for her UC Davis talk is CRISPR and Coronavirus.

UC Davis Healths Ralph Green, distinguished professor in the Department of Pathology and Laboratory Medicine, and medical director of UC Davis Diagnostics, recently collaborated with Doudna and others on a project to set up COVID-19 testing for UC Berkeley and the surrounding community and Green is helping with a similar project at UC Davis.

I had the good fortune to get to know Jennifer Doudna through my interaction with her group when they turned their skills and knowledge to setting up, at remarkable speed, a pop-up, PCR-based test for SARS-CoV-2 during the early days of the COVID-19 pandemic when the country was scrambling to meet the need for more testing, Green said.

I have to say that it has been a singular pleasure and privilege for me to interact with Jennifer Doudna and her colleagues.

CRISPR-Cas9 genetic engineering technology enables scientists to change or remove genes quickly and with great precision. Labs worldwide have redirected their research programs to incorporate this new tool, creating a CRISPR revolution with huge implications across biology and medicine.

Doudna is a leader in public discussion of the ethical implications of genome editing for human biology and societies. She advocates for thoughtful approaches to the development of policies around the use of CRISPR-Cas9.

Follow Dateline UC Davis on Twitter.

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'CRISPR and Coronavirus': Hear From Nobel Winner Jennifer Doudna - UC Davis

RALEIGH The western flower thrips an invasive insect thats not much bigger than a pinhead takes a huge bite out of agriculture around the world, racking up billions of dollars worth of damage on a wide range of food, fiber and ornamental crops each year. Scientists now have a complete genetic blueprint to help them better understand the pest and to find ways to control it.

The research fills a significant gap in agricultural science and insect science: It highlights the first genome sequence and analysis for a member of Thysanoptera, an order that contains over 7,000 species of small insects with fringed wings.A journal article on the researchwas published open-access inBMC BiologyOct. 19.

Dorith Rotenberg, associate professor in NCStates Department of Entomology and Plant Pathology, is lead author of the paper. Fifty-six other researchers from universities and research institutions on five continents contributed.

Rotenberg said that the size of the team reflects the importance of the western flower thrips, orFrankliniella occidentalis,which is known to feed on hundreds of types of field and greenhouse-grown crops.

Theyre on everything flowers, fruit trees, solanaceous crops you name it, Rotenberg said. Theyre a major pest of the Southeast U.S. and California as well as anywhere around the world you have a lot of fruits and vegetables growing.

The project to sequence the thrips genome is affiliated withi5k, an ambitious international effort to sequence and analyze the genomes for 5,000 arthropod species insects, crustaceans, spiders and other creatures with exoskeletons, segmented bodies and pairs of jointed legs.

The i5k initiative focuses on species important to agriculture, food safety, medicine and energy production and contributes to our understanding of evolutionary biology, ecology and more.

Rotenberg and her colleagues got started on the western flower thrips genome project by developing an inbred line of thrips. The Human Genome Sequencing Center of the Baylor College of Medicine then sequenced the genome and assembled it, and Rotenberg recruited scientists from around the world to manually check the automated DNA annotation, verifying the location of genes and determining what those genes do.

Western flower thrips are native to the western North America, but since the 1970s, they have spread quickly throughout the world. The insect damages plants not only by feeding and laying their eggs on them but also by infecting plants with viruses, including the devastatingly difficult-to-control tomato spotted wilt virus.

Tomato spotted wilt virus, or TSWV, has been known to infect more than 1,000 plant species, ranging from tobacco and peanuts to pansies and chrysanthemums. In fact, TSWVs host range is among the largest for plant viruses, and so is its geographical range.

While theres been lots of research in recent decades aimed at curbing the toll that the virus and western flower thrips take on agriculture, Rotenberg said the genome could speed the development of solutions by helping researchers pinpoint molecular-level targets among the insects nearly 17,000 genes.

During the genome assembly project, scientists identified sets of genes related to the insects ability to thrive. Specifically, they found genes associated with the insects ability to develop and reproduce, to find plant hosts through taste and smell, to protect itself from pathogens and to detoxify chemicals that plants produce to repel insects and that humans use to kill them.

As Rotenberg noted, controlling the western flower thrips is difficult because the insect reproduces rapidly and becomes resistant to insecticides. In cotton, for example, theres evidence that thrips have evolved resistance to 19 insecticides within six groups with different modes of action.

Entomologists and growers know this very well: Thrips are notorious for building up resistance very quickly, Rotenberg said. And so you have to consider developing and using different types of chemicals and integrating alternative control strategies to manage this pest.

Already, the availability of the western flower thrips genome is having an impact, Rotenberg says. In her NCState lab, shes using the genome to advance her efforts to better understand the molecular-level interactions that take place between the western flower thrips and TSWV research that could be vitally important to disease prevention.

We want to find the molecules in the insect that interact directly with the virus that it transmits because if we know those molecules, then we can perhaps disrupt them in some way by interfering with the binding of the virus to the molecule of interest, she said.

And this is just the tip of the iceberg. Hopefully, (the genome) will be a resource that people can use for a long time, even as others start to develop new technologies or new resources that are even better.

(C) NCSU

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'A major pest:' NCSU researcher helps unravel genetic blueprint of a bug 'that's on everything' - WRAL Tech Wire

BLOOMINGTON, Ind. -- As part of its ongoing efforts to manage and control COVID-19 on its campuses, Indiana University has started operating its own labs for COVID-19 testing. Since the university first started mitigation testing -- sometimes referred to as surveillance testing -- with its students, faculty and staff in August, tests were completed on campus and then sent to a third-party lab for analysis and results.

The new labs, in Bloomington and at the IU School of Medicine on the IUPUI campus, will be able to run the tests and provide this analysis. IU has been doing about 15,000 tests per week since the fall semester started. With the new labs online, the university will be able to complete 35,000 tests per week with the ultimate goal of doing 15,000 tests per day.

"We know the mitigation testing we've been doing on all IU campuses is a key piece of keeping cases low in our campus communities and maintaining the health and safety of our students, faculty and staff," said Dr. Aaron Carroll, director of mitigation testing, and professor of pediatrics and health outcomes research leader at the IU School of Medicine. "With these new labs, I'm excited to be able to further enhance our mitigation testing with more frequency and including a larger number of people in each week's sample group."

The labs are overseen by IU School of Medicine faculty members Aaron Ermel and Gail Vance and IU Bloomington faculty member Craig Pikaard. Trained lab staff will work with a variety of technology in the labs to analyze the thousands of mitigation tests completed each week at IU campuses. Liquid handling robots handle and process the saliva samples collected as part of the tests used during mitigation testing. From these samples, the lab determines if genetic material from the virus is in the sample. If genetic material is detected, the test is positive. If not, the test is negative for COVID-19.

"As we begin processing these tests at the university, our students, faculty and staff will notice much faster turnaround times for test results -- likely 24 hours or less," Carroll said.

Otherwise, he said, the mitigation testing process will remain the same. Emails will still be sent to people selected in each week's testing group, appointments will be need to be scheduled (although now through IU instead of Vault, the previous lab being used), and results will still be sent via email.

As the IU labs expand the number of tests they do each day, IU campuses will shift from Vault to using the IU labs exclusively. Tests from IU Bloomington are starting to be analyzed in the labs now, with tests from IUPUI and the regional campuses starting to use the labs in the near future.

"In addition to the cost efficiencies with operating our own labs, having the ability to run these tests here allows us to spot any trends or potential outbreaks and take appropriate public health actions in a much more timely manner," Carroll said. "Especially with COVID-19 cases increasing across the state and country, this continued testing is one of the best ways we have to manage the virus and hopefully avoid any outbreaks."

The labs will focus on mitigation testing for now but may also move into close contact testing, confirmatory testing for antigen ("rapid") tests and possibly even symptomatic testing in the months to come.

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IU has started operating its own labs for COVID-19 mitigation testing - IU Newsroom

And in September, Senator Elizabeth Warren of Massachusetts and three other members of Congress called on the Department of Health and Human Services to investigate their use, warning that they risk embedding racism into medical practice.

Some medical institutions have stopped using race corrections in some tests. MGH and Brigham and Womens Hospital, for example, no longer adjust the results of a popular test for kidney functions, called eGFR. Critics worried the adjustment had tended to make kidney functions of Black patients look better, possibly concealing genuine problems and causing dangerous delays in needed medical care. Last week, a new study from Brigham and Womens Hospital concluded that eliminating race correction in kidney disease tests would qualify up to one in every three Black patients for more advanced care and that might result in more effective treatment of the disease.

There have been several reports of computer algorithms that produce racially biased results, such as facial recognition programs that can accurately identify white people, but not Black people. Earlier this year, a Black man in Michigan was arrested after facial recognition software falsely identified him as a criminal suspect. Such problems are usually a byproduct of the software development in this case, using too few photos of Black people to train the software to recognize dark-skinned faces.

Racial corrections for medical diagnostic tests were created on purpose. Consider the spirometer, used to measure lung capacity. The devices often require doctors to enter the race of the patient prior to the test, based on research dating back as far as the 19th century that indicates Black people have lower lung capacity than white people.

Other examples include an algorithm used to estimate the risk to the health of a pregnant woman planning to give birth vaginally, if she has previously undergone a caesarean birth. The race-adjusted algorithm predicts that vaginal birth is more dangerous for Black and Hispanic women than for white women. But for most women, vaginal deliveries result in fewer complications and faster recovery times. Vyas speculates that the algorithm may discourage doctors from offering vaginal deliveries to women of color, who already face a higher rate of maternal mortality.

The problem, according to Vyas, is that doctors and scientists are treating race as a clear-cut biological reality when it isnt. Research in population genetics has shown that apart from features such as skin color and hair texture, theres not that much difference genetically among people of different races. And the differences are bound to diminish even further, as interracial marriage becomes routine in the United States.

We know that race is not a biologic category, said Vyas. Its not genetic. Its a social construct.

Still, a variety of tests appear to show real differences between Black and white patients. The race correction for eGFR kidney tests was developed after large-scale research studies found that the test tended to underestimate kidney function in Black people.

Another example of the biology vs. environment tension involves the coronavirus. In a new paper in the Journal of the American Medical Association, researchers from the Mount Sinai School of Medicine reported that a gene associated with higher risk of contracting COVID-19 is more commonly found in the nasal tissues of Black people than white people. This genetic difference could help explain why such a high percentage of Black people in the US get infected.

But that doesnt prove that race is the reason. Vyas argues scientists should look for other explanations, such as the effects of systemic racism. For example, Black people are more likely to live in poverty, which exposes them to greater health risks. Vyas also said the psychological stress of coping with constant racism could affect the health outcomes of Black patients.

"Its not okay to just mention race without talking about racism, Vyas said.

The lead authors of the Mount Sinai study take note of this too, arguing that environmental and social factors play a role in the activation of genes. This could explain why Black people are more vulnerable to COVID-19.

Even a physician who helped develop the race-corrected algorithm for kidney tests agreed the practice has its limitations. But Lesley Inker, director of the Kidney and Blood Pressure Center at Tufts Medical Center, cautioned that failing to take race into account could also lead to faulty diagnoses in some cases.

For example, diabetes is the number-one cause of kidney failure among Black people. But because of potential side affects, current medical practice advises not administering two of the most effective drugs for diabetes to patients with low eGFR scores. Removing race correction from the kidney test would lower the scores of Black patients and make some of them ineligible for diabetes drugs that could help save their kidneys.

This is complex, and theres lots of pros and cons and balancing acts which should be considered prior to acting, Inker said.

Inker warns that giving up on these corrections too quickly might be dangerous. For instance, cardiologists have recently adopted a new way of assessing heart disease risk that takes race into account. For years, doctors have relied on data from a massive study of heart disease in Framingham, which began in 1948 and continues to this day. But the population of that study is overwhelmingly white. Now doctors supplement that data with an algorithm based on data from thousands of Black patients, and have found that the new approach is better at providing early warning of heart disease in Black people.

Melissa Simon, who heads the Center for Health Equity Transformation at Northwestern University Medical School in Chicago, said doctors need more data to understand the different health outcomes between Black and white people. In 2015, the National Institutes of Health launched a Precision Medicine Initiative that hopes to use genetic data and detailed information about a patients lifestyle and habits to determine the ideal course of treatment for each individual. Simon hopes that kind of highly personalized medicine could eliminate the need for race-based diagnostics altogether.

Updated with a new study on race correction in kidney disease tests.

Hiawatha Bray can be reached at hiawatha.bray@globe.com. Follow him on Twitter @GlobeTechLab.

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A new push to remove race-based assessments in medicine - BetaBoston

New York, Oct. 21, 2020 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Cell Therapy Instruments Market Forecast to 2027 - COVID-19 Impact and Global Analysis by Product ; Cell Type ; Process ; End User, and Geography" - https://www.reportlinker.com/p05978058/?utm_source=GNW On the other hand, high cost of cell therapy production and cell therapy are expected to hinder market growth.The growing advancements in biotechnology have led to the introduction of personalized treatments for people suffering from various health conditions.For instance, stem cell and immune cell therapies are preferred to treat chronic diseases such as cancer, diabetes, neurological disorders, and genetic disorders.

Further, the cell therapy advantages, such as targeted treatment, faster and efficient recovery, and reduced side effectspromote the launch of various products in the market, thereby increasing the production volume.

In North America and Europe, cell therapies are widely adopted owing to the availability of the US Food and Drug Administration (FDA) approved products in the market.For instance, in April 2020, FDA awarded regenerative medicine advanced therapy (RMAT) designation to Novartis Kymriah (tisagenlecleucel) to treat refractory (r/r) follicular lymphoma (FL) in adults.

The company claims that the therapy has the potential to treat acute lymphoblastic leukemia (ALL) and r/r adult diffuses large B-cell lymphoma (DLBCL) in children and young adults.Similarly, in October 2017, Kite, a Gilead, received an approval from FDA for its Yescarta, the first chimeric antigen receptor T cell (CAR T) therapy that treats refractory large B-cell lymphoma after two or more steps of systemic therapy in adults. In June 2020, the company announced the opening of a manufacturing hub in Amsterdam after it received an approval from the European Medicines Agency (EMA).There are several ongoing clinical trials for cell therapies; thus, to commercialize cell therapy products to the masses, manufacturers need to increase their production capacity.Various market players such as ThermoFisher Scientific Inc, Cytiva, Danaher Corporation, and Lonza are offering laboratory instruments.

Also, the rising demand for cell therapies have attracted biotechnology startups to enter the cell therapy domain. Thus, various biopharmaceutical companies and startups have increased their production, which has eventually increased the demand for cell therapy instruments.

Based on product, the cell therapy instrumentmarket is segmented into the consumables, equipment, systems, and software.In 2019, the consumables segment accounted for the highest share of the market.

The growth of the segment is attributed to the rising research activities that demand reagents, kits, and lab wares in higher quantity.Also, the increased production for commercialization has influenced the market for the consumables segments.

Additionally, the rising adoption of cell therapy has increased the demand for storage consumables to supply and distribute it to the desired places.

Based on cell type, the cell therapy instrumentsmarket is segmented into human cells and animal cells.The human cells segment held a larger share of the market in 2019, and is estimated to register a higher CAGR in the market during the forecast period.

The growth of segment is determined to growing research based on human cells to derived personalized medicines as the genetic makeup of a patient, and growing product developments for the human cells.

Based on process, the cell therapy instrumentsmarket is segmented into cell processing, process monitoring and quality control, and cell preservation, distribution, and handling. The cell processing segment held the largest share of the market in 2019, and is estimated to register the highest CAGR in the market during the forecast period.

Based on end user, the cell therapy instruments market is segmented into research institutes, life science research companies, and other end users. The life science research companies segment held the largest share of the market in 2019, and same segment is estimated to register the highest CAGR of 14.0% in the market during the forecast period.

The Food and Drug Administration, European Medicines Agency, Italian Medicines Agency, The Global Burden of Disease Study, American Society of Gene & Cell Therapy, and Ministry of Health and Preventionare among the major secondary sources referred for preparing this report.Read the full report: https://www.reportlinker.com/p05978058/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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Cell Therapy Instruments Market Forecast to 2027 - COVID-19 Impact and Global Analysis by Product ; Cell Type ; Process ; End User, and Geography -...

Chongtao Du,1,* Yuyang Feng,1,* Guizhen Wang,2 Zhiyuan Zhang,1 Huimin Hu,1 Yu Yu,1 Jiayang Liu,1 Lihao Qiu,1 Hongtao Liu,1 Zhimin Guo,3 Jing Huang,3 Jiazhang Qiu1

1Key Laboratory of Zoonosis, Ministry of Education, College of Veterinary Medicine, Jilin University, Changchun 130062, Peoples Republic of China; 2College of Food Engineering, Jilin Engineering Normal University, Changchun 130052, Peoples Republic of China; 3Department of Clinical Laboratory, The First Hospital of Jilin University, Changchun 130021, Peoples Republic of China

*These authors contributed equally to this work

Correspondence: Jiazhang QiuCollege of Veterinary Medicine, Jilin University, No. 5333 Xian Road, Changchun 130062, Peoples Republic of ChinaEmail qiujz@jlu.edu.cnJing HuangDepartment of Clinical Laboratory, The First Hospital of Jilin University, Changchun 130021, Peoples Republic of ChinaEmail huangj@jlu.edu.cn

Objective: A colistin-resistant Escherichia coli strain isolated from dog feces was characterized in this study.Methods and Results: A multiplex PCR assay was used to detect the presence of colistin-resistant mcr genes; it was found that E. coli QDFD216 co-harbored the mcr-1 and mcr-3 genes. Whole-genome sequencing and further bioinformatics analysis revealed that E. coli QDFD216 belonged to serotype O176:H11, fimH1311 type and ST132. The resistance genes blaCTX-M-14, mdfA, dfrA3, acrA, acrB, tolc, and sul3 were present in the chromosome. The mcr-1.1 and mcr-3.7 genes were located in two plasmids of different incompatibility groups. mcr-1.1 was carried by a IncX4-type plasmid within an typical IS 26-parA-mcr-1.1-pap2 cassette, while mcr-3.7 was encoded by an IncP1-type plasmid with a genetic structure of TnAs2-mcr-3.7-dgkA-IS 26. No additional antibiotic resistance genes were carried by either plasmid.Conclusion: This is the first report of an E. coli isolate co-harboring a mcr-1.1-carrying IncX4 plasmid and a mcr-3.7-carrying IncP1 plasmid. The evolution and mechanism of mcr gene co-existence need further study to assess its impact on public health.

Keywords: colistin resistance, whole-genome sequencing, mcr genes, mcr-1, mcr-3

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Co-Occurrence of the mcr-1.1 and mcr-3.7 Genes in a Multidrug-Resistan | IDR - Dove Medical Press

Prime editing is the gene-editing method that can insert, delete and do base swapping accurately. Prime editing also termed as genetic word processor precisely select the target DNA and replace genetic code. Targeting 75,000 different mutations and correcting 89% of genetic defects will drive the demand for prime editing. In 2017, the first gene editing in the human body was attempted. Gene editing in a patient with Hunters syndrome was tested for safety and concluded reliable shreds of evidence. Superior target flexibility and editing precision with minimal errors make Prime editing first preference over the other conventional technique such as CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats). Application of prime editing in reversing Genetic disease will be a milestone in gene editing.

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Increasing prevalence of genetic disease creates a huge opportunity for prime editing market. Successful preliminary results with a genetic disease like Tay Sachs and Sickle cell anaemia will drive the prime editing market. Technological advancements providing minimal error with this technique will fuel the growth of prime editing. Decreased cost of DNA sequencing will propel prime editing market for research and commercialization. Arising ethical and safety concerns will make prime editing highly regulated sector. This may limit the scope and can restraint the growing market. Detrimental effect on Genetic diversity due to genetic engineering in one way may limit the market scope.

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The global Prime Editing market is classified on the basis of application and end user:

Based on application, Prime Editing Market is segmented into following:

Based on end user, Prime Editing Market is segmented into following:

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Prime Editing is the most recent invention has created a buzz in the market. Firms accessing conventional genome engineering technologies have rolled plans of transitioning to this new technology. The restructuring by the firms is either by building upon the technological capabilities or by merging or acquiring the firms which hold expertise in prime editing. Inscripta, one of the most innovative company has launched the worlds first benchtop platform for digital genome engineering. Inscriptas Onyx device that was launched in October 2019, will enable genome editing at an unprecedented scale and cheaper rate. In 2019, Beam Therapeutics collaborated with a premium start-up in prime editing segment Prime Medicine for Prime Editing Technology. Beam therapeutics holds expertise in precision genetic medicine using base editing technology. The market consolidation activities my giants depict that genome editing will be the largest revenue-generating segment for prime editing market.

North America will drive the market for Prime Editing due to high prevalence of genetic disease and technological advancement in the U.S. and Canada. One in every 27 Jews, is carrying Tay Sachs disease gene. After North America, Europe is leading in patient pool for genetic diseases such Hemophilia and Cystic fibrosis. The genetic disease pool will drive the adoption for Prime editing treatments in this region. Asia-Pacific will remain at steady growth for Prime Editing market due less disease prevalence and focus on other therapies. Latin America and Middle East and Africa region will boost the market owing to the disease prevalence.

Examples of some of the market participants in Prime Editing market identified across the value chain Beam Therapeutics Inc., Precision BioSciences, Inscripta, Inc, Horizon Discovery Ltd., Sangamo Therapeutics, Inc., CRISPR Therapeutics., Intellia Therapeutics, Inc.

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The Prime Editing market to get on to the elliptical growth mode in the next decade - PharmiWeb.com

A new study led by scientists at IUPUI and Indiana University Bloomington is the first to describe a biochemical mechanism that increases the activity of a molecule whose presence is observed in many types of cancer.

The molecule, an enzyme called Pif1 helicase, plays a role in many important cellular processes in the body. Tightly regulating this protein is vital to genome stability because too little -- or too much -- activity can influence aging and age-related diseases, primarily cancer. A common cancer therapy, HDAC inhibitors, can also impact the mechanism that regulates this enzyme.

"We're currently giving people drugs that change the acetylation status of the cell without knowing how it affects many proteins that play a role in genome stability," said Lata Balakrishnan, an associate professor of biology in the School of Science at IUPUI, who is co-lead author on the study. "HDAC inhibitors upregulate certain tumor-suppression genes, and thus are used in combination therapies to treat specific cancers, but when it comes to their impact on other parts of the cell, we're basically operating in the dark."

The study's other lead author is Matthew Bochman, an associate professor in the IU Bloomington College of Arts and Sciences' Department of Molecular and Cellular Biochemistry. Other co-authors are Christopher Sausen and Onyekachi E. Ononye, Ph.D. students in Bochman's and Balakrishnan's labs, respectively, at the time of the study.

The effect of lysine acetylation on Pif1 is the mechanism described in the study. Lysine acetylation occurs when a small molecule called an acetyl group binds to lysine, an amino acid used to build common proteins in the body. This action transforms lysine from a positively charged molecule to a neutrally charged molecule. This neutralization can impact protein function, protein stability and protein-protein interaction in cells, among other things.

Helicases are known as the genetic "zippers" of cells because they pull apart DNA for the purpose of genetic replication and repair. They also help maintain telomeres, the structure at the end of chromosomes that shortens as people age.

In the new study, the researchers identified lysine acetylation on Pif1 helicase and showed the addition of the acetyl group increases the protein's activity -- as well as its "unzipping" function. They also found that lysine acetylation changes the shape -- or "conformation" -- of the Pif1 protein. They believe that this shape change increases the amount of Pif1 helicase.

"The dynamic interplay of the addition and removal of the acetyl group on lysine regulates a wide variety of proteins within the cell," Balakrishnan said. "Perturbations to this process can play a role in cancer, aging, inflammatory responses and even addiction-related behaviors."

"As a class, helicases are involved in a lot of processes necessary for genome integrity," Bochman added. "Any significant failure in these processes is generally carcinogenic."

The precise details of lysine acetylation in Pif1, its effect of the enzyme's shape and the resulting impact on helicase activity took nearly five years to observe and report. The study, carried out in parallel on two IU campuses, was made possible by the lead scientists' complementary expertise. As a biochemist who has previously studied lysine acetylation in other proteins, Balakrishnan was able to isolate Pif1 in vitro to observe its response to chemical reactions in a test tube. In contrast, as a geneticist working in yeast as a model organism to study Pif1, Bochman was able to modify cells in vivo to watch reactions play out in a living organism.

"The ability to observe these reactions in a living cell is often more relevant, but it's also a lot messier," Balakrishnan said. "Our experiments were constantly informing each other as to where to go next."

Looking to the future, Bochman said intricate knowledge of cellular processes -- such as lysine acetylation -- will increasingly play a role in personalized therapy.

"If you sequence a patient's tumor, you can fine-tune drugs to target very specific enzymes," he said. "Instead of a drug that broadly affects the whole cell, it will be possible to take a targeted approach that reduces potential side effects. This level of personalization is really the future of cancer biology and cancer medicine."

"Lysine Acetylation Regulates the Activity of Nuclear Pif1" is available online in advance of print in the Journal of Biological Chemistry. A perspective article on the work is also forthcoming in the journal Current Genetics.

This work was supported in part by the National Science Foundation, the National Institutes of Health and the American Cancer Society.

Indiana University's world-class researchers have driven innovation and creative initiatives that matter for 200 years. From curing testicular cancer to collaborating with NASA to search for life on Mars, IU has earned its reputation as a world-class research institution. Supported by $854 million last year from our partners, IU researchers are building collaborations and uncovering new solutions that improve lives in Indiana and around the globe.

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Study reports chemical mechanism that boosts enzyme observed in cancer - IU Newsroom

Understanding genetic disease in mixed-breed and purebred dogs and cats can bring about more effective treatments and better client service, says clinical geneticist and general practitioner Dr. Jerold Bell.

If we understand the genetic background of our patients, were better positioned to prevent, to mitigate, or to alter the expression of genetic disease, allowing our patients to be healthier in their lifetimes as well as to breed healthier dogs and cats, Dr. Bell said.

An adjunct professor at the Cummings School of Veterinary Medicine at Tufts University, Dr. Bell spoke about genetic diseases during the AVMA Virtual Convention 2020 this August. In addition to his teaching duties, Dr. Bell works as a solo practitioner, and he sees dogs and cats all day long and sees genetic disease in our patients all day long.

He explained that common genetic disorders are caused by ancient disease liability genes that preceded breed formation. Since these mutations occurred long before the separation of breeds, these diseases are seen across all breeds and in mixed breeds.

The most common hereditary diseases in dogs are allergies, followed by hip and elbow dysplasia; inherited cancers such as lymphoma, hemangiosarcoma, mast cell tumor, and osteosarcoma; patella luxation; nonstruvite bladder stones; hypothyroidism; mitral valve disease; inflammatory bowel disease; diabetes mellitus; retained testicles; and umbilical hernias.

In cats, the most prevalent genetic diseases are inflammatory cystitis, then feline urological syndrome, diabetes mellitus, lymphoplasmocytic gingivostomatitis, nonstruvite bladder stones, allergies, eosinophilic skin disease, and inflammatory bowel disease.

Disease is not a function of homozygosity, which happens when identical DNA sequences for a particular gene are inherited from both biological parents, nor is it a consequence of inbreeding. Rather, Dr. Bell explained, hereditary diseases are a result of the accumulation and propagation of specific disease liability genes. Breed-related deleterious genes accumulate in various ways, including direct selection for disease-associated phenotypes, linkage to selected traits, carriage by popular sires, genetic drift, andmost importantlythe absence of selection against deleterious phenotypes.

If we dont select for healthy parents to produce offspring, then we have no expectation of health in those offspring, Dr. Bell said. Not selecting for health is selecting for disease, and we need to understand that and pass that on to our breeder clients.

On the topic of disease and extreme phenotypes, Dr. Bell said brachycephalic obstructive airway syndrome is frequently diagnosed at veterinary clinics on account of the popularity of certain brachycephalic dog breeds, namely Pugs, French Bulldogs, and Bulldogs. Most breed standards do not call for the expression of extreme phenotypes, he said, nor do they select for the most extreme size or the most extreme brachycephalic trait.

Moderation away from extremes that cause disease should be the guiding principle in breeding, Dr. Bell noted, and in judging dog shows.

Common genetic diseases seen in mixed-breed dogs and cats occur randomly because of dispersed ancient liability genes, according to Dr. Bell. Uncommon and breed-specific recessive or complexly inherited disease is far less likely to occur in mixed-breed individuals.

Dr. Bell said designer-bred dogs and cats often have inherited diseases common in random-bred populations. They can also inherit disease liability genes shared by the parent breeds or parent species. So if youre breeding short-statured breeds together, it wouldnt be surprising to see patellar luxation, or in smaller toy size breeds, to see mitral valve disease, he said.

Hereditary disease manifests as a result of anatomical mismatch between parent breeds. We see a lot of this in dental disease, where we see crowding of teeth and malocclusions and misplaced teeth, Dr. Bell continued. Even in the musculoskeletal, if you breed two breeds with different body types together, we may see degenerative joint disease and poor joints. All of these things, all need to be monitored.

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Making sense of genetic disease in dogs and cats - American Veterinary Medical Association

SAN DIEGO, Oct. 15, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that a study led by scientists and clinicians from the Institute for Human Genetics at the UCSF School of Medicine and the Department of Pediatrics at the University of Colorado School of Medicine and published in bioRxiv used Bionanos proprietary genome imaging technology to identify novel disease causing variants in patients with three different genetic diseases and in a diverse control dataset of 154 individuals. The study found that Bionano's Saphyr System was able to comprehensively analyze complex genome structures called segmental duplications and helped identify several novel structural variations associated with each disease causing locus increasing the understanding of these diseases.

Segmental duplications are large segments of repetitive sequences tens to hundreds of thousands of base pairs in size. Short-read and long-read sequencing technologies cannot span these large segments of the genome. Only Bionanos optical mapping technology can image single molecules that are so long that they span the segmental duplications. These repetitive sequences can interact with each other when sperm or eggs are created and their rearrangement can cause severe genetic disease. Some of the most common of such diseases are microdeletions at 7q11.23, also known as Williams-Beuren syndrome (WBS), 15q13.3 microdeletion syndrome, 16p12.2 microdeletion syndrome and 22q11.2 deletion syndrome, also known as DiGeorge syndrome.

This study, published in bioRxiv, provides a population-level analysis of segmental duplications in 154 people and in patients with WBS, 15q13.3, and 16p12.2 microdeletion syndromes. Several novel SVs were detected for each locus, and the exact disease causing rearrangement was determined with much higher accuracy than was formerly possible without Saphyr. As previously announced, a recent publication in the journal Nature published on July 22, 2020 also discussed the unique contribution of Bionanos optical mapping technology to understanding the genetic causes of DiGeorge syndrome.

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, The microdeletion and microduplication syndromes are common genetic disorders, yet the exact genomic structures that cause them have been difficult or impossible to characterize with current sequencing-based methods. Even though microdeletion syndromes are commonly represented by hallmark features, in many cases a wide variability in clinical features is observed. Being able to understand and measure the subtle structural differences in microdeletions among different patients could allow for better clinical or therapeutic management. An increasing number of studies have relied on Bionanos Saphyr system to characterize disease-causing structural variants that could not be correctly analyzed with other molecular techniques. We will continue to make our technology available to researchers everywhere who want to greatly expand the capabilities of their genomic analysis.

The publication is available at https://www.biorxiv.org/content/10.1101/2020.04.30.071449v1.full

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

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

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

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

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

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Bionano Genomics' Saphyr System Shown to be Indispensable for the Analysis of Certain Genetic Disease Causing Variants - GlobeNewswire

PITTSBURGH, Oct. 13, 2020 (GLOBE NEWSWIRE) -- NeuBase Therapeutics, Inc. (NASDAQ: NBSE) (NeuBase or the Company), a biotechnology company accelerating the genetic revolution using a new class of synthetic medicines, announced the addition of Peter Nielsen, Ph.D. to its scientific advisory board. Dr. Nielsen, the primary inventor of peptide nucleic acid (PNA) technology, brings extensive experience in genetic medicine to NeuBase as the Company optimizes its PATrOL therapies and moves them towards the clinic.

We are honored to welcome Dr. Nielsen, a transformational leader in the field of genetics and genomic technologies, to the NeuBase scientific advisory board. His unique perspective gained over his distinctive career will undoubtedly provide valuable insight and complement our team of renowned experts, said Dietrich A. Stephan, Ph.D., chief executive officer of NeuBase. We believe that our new class of synthetic medicines, which relies on the elegant scaffold chemistry invented by Dr. Nielsen, has the potential to change the treatment landscape for many diseases, both common and rare. We look forward to leveraging his unparalleled knowledge as we continue to advance our PATrOL platform under the guidance of our outstanding group of scientific advisors.

Dr. Nielsen added, NeuBases PNA technology is among the first to be advanced through development for therapeutic applications, and I am thrilled to be part of the revolution the Company is leading. I look forward to working with the team and lending my guidance as NeuBase progresses its first-in-class medicines.

Dr. Peter Nielsen is a leading expert in gene targeting, RNA interference and chemical replication and translation and was one of the inventors of PNAs in 1991. He is currently a professor at the University of Copenhagen where his lab focuses on PNAs in regard to drug discovery, gene targeting, antisense principles, cellular and in vivo delivery and administration of biopharmaceuticals. He is the co-author of more than 400 scientific papers and reviews as well as over 20 patents and patent applications, and he serves on the advisory board of four scientific journals.In addition to his esteemed academic career, Dr. Nielsen is the co-founder of two biotech companies in Denmark and is a member of EMBO and the Danish Academy of Technical Sciences. He received his Ph.D. in 1980 from University of Copenhagen.

About NeuBase Therapeutics, Inc.NeuBase is accelerating the genetic revolution using a new class of synthetic medicines. NeuBases designer PATrOL therapies are centered around its proprietary drug scaffold to address genetic diseases at the source by combining the highly targeted approach of traditional genetic therapies with the broad organ distribution capabilities of small molecules. With an initial focus on silencing disease-causing mutations in debilitating neurological, neuromuscular and oncologic disorders, NeuBase is committed to redefining medicine for the millions of patients with both common and rare conditions. To learn more, visit http://www.neubasetherapeutics.com.

Use of Forward-Looking Statements

This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act. These forward-looking statements are distinguished by use of words such as "will," "would," "anticipate," "expect," "believe," "designed," "plan," or "intend," the negative of these terms, and similar references to future periods. These views involve risks and uncertainties that are difficult to predict and, accordingly, our actual results may differ materially from the results discussed in our forward-looking statements. Our forward-looking statements contained herein speak only as of the date of this press release. Factors or events that we cannot predict, including those risk factors contained in our filings with the U.S. Securities and Exchange Commission, may cause our actual results to differ from those expressed in forward-looking statements. The Company may not actually achieve the plans, carry out the intentions or meet the expectations or projections disclosed in the forward-looking statements, and you should not place undue reliance on these forward-looking statements. Because such statements deal with future events and are based on the Company's current expectations, they are subject to various risks and uncertainties, and actual results, performance or achievements of the Company could differ materially from those described in or implied by the statements in this press release, including: the Company's plans to develop and commercialize its product candidates; the timing of initiation of the Company's planned clinical trials; the timing of the availability of data from the Company's clinical trials; the timing of any planned investigational new drug application or new drug application; the Company's plans to research, develop and commercialize its current and future product candidates; the clinical utility, potential benefits and market acceptance of the Company's product candidates; the Company's commercialization, marketing and manufacturing capabilities and strategy; global health conditions, including the impact of COVID-19; the Company's ability to protect its intellectual property position; and the requirement for additional capital to continue to advance these product candidates, which may not be available on favorable terms or at all, as well as those risk factors contained in our filings with the U.S. Securities and Exchange Commission. Except as otherwise required by law, the Company disclaims any intention or obligation to update or revise any forward-looking statements, which speak only as of the date hereof, whether as a result of new information, future events or circumstances or otherwise.

NeuBase Investor Contact:Dan FerryManaging DirectorLifeSci Advisors, LLCDaniel@lifesciadvisors.comOP: (617) 430-7576

NeuBase Media Contact:Cait Williamson, Ph.D.LifeSci Communicationscait@lifescicomms.comOP: (646) 751-4366

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NeuBase Therapeutics Announces Addition of Peter Nielsen, Ph.D., Inventor of Peptide Nucleic Acid Technology, to Scientific Advisory Board - BioSpace

Researchers at the University of California, Davis, School of Veterinary Medicine have identified a genetic cause for the fatal condition equine familial isolated hypoparathyroidism (EFIH) in Thoroughbreds, marking the first genetic variant for hypoparathyroidism identified in any domestic animal species. Additionally, this is the first widely available genetic test for Thoroughbreds.

The study, led by Carrie Finno, DVM, PhD, Dipl. ACVIM, and Gary Magdesian, DVM, CVA, Dipl. ACVIM, ACVECC, ACVCP, wasreportedin the journalPLoS Genetics.Genetic testingcan now be performed at theUC Davis Veterinary Genetics Laboratoryto identify horses with the variant and avoid mating carriers that could produce affected foals.

For Thoroughbred owners and breeders, the loss of a foal has tremendous economic and emotional impacts, said first author Victor Rivas, who conducted the project as part of his undergraduate training in Finnos laboratory. It is important to promote safe and strategic breeding habits by actively breeding horses genetically screened not only for EFIH but for other diseases that may impact quality of life.

Foals affected with EFIH suffer from low blood calcium concentrations, resulting in involuntary muscle contractions, muscle stiffness that leads to a stiff gait and can progress to an inability to stand, seizures, fevers, and an abnormally fast pulse. Parathyroid hormone is typically produced to increase calcium levels in the body, but in these foals concentrations are low or inappropriately normal (i.e., they should be high due to the low calcium). Affected foals die or are euthanized due to poor prognosis. Necropsy results reveal underdeveloped or absent parathyroid glands.

Previously termed idiopathic hypocalcemia, EFIH has been observed in Thoroughbred foals up to 35 days of age. Disease onset and progression are likely determined by the amount of calcium in the diet early in life. This can vary based on dam milk calcium concentration and the amount of milk ingested.

In the current study, the researchers determined an autosomal recessive mode of inheritance and performed whole genome sequencing of two affected foals. A mutation in therap guanine nucleotide exchange factor 5(RAPGEF5) gene was present in two copies (homozygous) in both foals. They further analyzed the variant in a frog developmental model and demonstrated loss of function of the RAPGEF5 protein leading to aberrant development. Based on these data, the researchers hypothesize thatRAPGEF5might play a role in the derivation of the parathyroid gland during development.

Researchers have not identified the variant in individuals from 12 other breeds. The allele frequency for theRAPGEF5variant in an expanded set of 82 randomly selected, unaffected Thoroughbreds was 0.018. An unbiased allele frequency study has not been performed, so the allele frequency in the larger Thoroughbred population is currently unknown.

The next steps are to assess the allele frequency in a large population of randomly selected Thoroughbreds, said Finno. Additionally, we have discussed collaborating with Dr. Nathan Slovis at Hagyard Equine Medical Institute in Kentucky to test for the variant in cases of sudden death in Thoroughbred foals.

The clinical presentation of EFIH is similar to human familial hypoparathyroidism. Because theRAPGEF5gene is highly conserved across species, it is a potential new candidate gene for primary hypoparathyroidism in humans, the researchers said.

Excerpt from:
Genetic Variant for EFIH in Thoroughbreds Found The Horse - TheHorse.com

The revolution of genetic testing has led to more accurate and widespread assays for patients with cancer; however, as more genetic variants are identified, it has become a greater challenge to determine the optimal treatment for an individual patient, according to GouthamNarla, MD, PhD.

As we sequence more genes, we will have more information, which is a good thing, said Narla. Of course, we will also find more variants that, at this time, we don't know whether they're pathogenic or benign. They get lumped into the uncertain category, which creates uncertainty for patients and for providers, as well.

In an interview withOncLiveduring the 2020 Institutional Perspectives in Cancer (IPC) webinar on Precision Medicine, Narla, an associate professor in the Department of Medicine; chief of the Division of Genetic Medicine, Department of Medicine; and associate director of the Medical Scientist Training Program, University of Michigan, further discussed the utility of genomic testing and updates in next generation sequencing (NGS).

OncLive: Could you discuss the key advances in cancer genetics? What are some of the mechanisms that have driven its development?

Narla: A couple of major advancements we've seen in cancer genetics is the identification of additional disease-causing variants. It used to be when I first trained as a medical geneticist, we really only knew about BRCA1/2 and some of the mismatch repair genes. Now, we know about other genes, including PALB2, and other members and genes in that family. That has expanded the testing opportunities for our patients.

The other aspect that has been very exciting is now some of these gene variants are predictive of response to therapies. We have therapies that can be specifically used and work for patients who harbor some of these germline variants. That has really changed the way in which we have treated patients who carry these variants.

What are some of the recent developments in NGS?

Previously, we were doing single-gene testing, oftentimes by Sanger sequencing. Now, we can do large panels of genes depending upon the company and the panel; these comprise anywhere from 60 to 70 genesin some cases, several thousand genes. It has allowed us to collect vast amounts of sequencing information. Some of it will not be directly actionable now, but it still fuels research opportunities for us at major academic medical centers, and when more knowledge [is] gained, we go back to some of those sequencing results to see if, in fact, there was something that is now actionable based upon new knowledge.

How are we using this information to develop targeting strategies?

A lot of the approaches that we are using now may not involve the directly targeting the defective gene or protein, but they are leveraging knowledge about how that defective gene or protein causes activation of targetable pathways. For example, when it comes to BRCA1 loss, that creates a unique opportunity to use a PARP inhibitor in a synthetic lethal interaction, where those cells become highly dependent upon that enzyme. Then, you can inhibit with small molecules [or perhaps] approved PARP inhibitors, such as olaparib (Lynparza), and others for which there are now [a number of approved drugs that can target] a range of BRCA-deficient metastatic tumors.

How else has genomic testing evolved?

The evolution has been both in the number of individuals that we test, as well as how many genes we test. [For example, we used to] test families in which there are numbers of individuals who have cancer and we had a strong pretest probability that they would have a germline variant. Now, in fact, every patient with metastatic ovarian cancer, regardless of family history, gets tested. This is because we have PARP inhibitors for them. It not only has implications for their family but it also has implications for their treatment choices.

What guidelines have been helpful to your practice as it relates to genomic testing?

There are a number of organizations from the American Cancer Society to National Cancer Institute and the National Comprehensive Cancer Network (NCCN) that have very robust guidelines on who to test. There is also a little bit of subjectivity in making an appraisal with a genetics professional, meaning a genetic counselor or a medical geneticist, because not every family will fit the structure or will even know the entirety of their family history. There is some nuance to this, but there are definitely very established guidelines that exist and that we use when making these types of decisions.

However, the NCCN guidelines are very good and are used by [our institution. Then we apply our own nuances when we see the patient on a case by case basis. But, [in terms of] informing who should be tested and who should not, and which individual in the family should be [tested], the NCCN guidelines are a very good [resource].

What challenges could be addressed with future research?

I would like to see more of an effort to share data across all institutions and testing companies to reclassify these variants. I would like to see more basic science and translational science around what we call variant reclassification, so that we can really make definitive calls about the sequence changes that we see. The more genes we sequence, the more variants we find, and on larger panels, [we can see these uncertain variants in up to] 20% of patients. We're finding something in a gene, but we don't know whether it's good or bad for the patient.

Are there any new capabilities or technologies emerging that you find particularly exciting?

From a technology perspective, the last 10 years in sequencing has been a revolution; the cost of sequencing has come down and the accuracy has gone up. I'm not sure that we're going to see that much more of a revolution in the sequencing technology; it will be more efficient and more cost effective. We're [going to see] the identification of new genes associated with disease [and will therefore] it will be in the variant reclassification space.

What testing or sequencing studies are of particular interest?

One type of study that has read-out recently comprise the effectiveness of immunotherapy in patients who have mismatch repair deficient tumors. That has been really game-changing for those patients. The other major study is the use of PARP inhibitors in BRCA-mutant tumorsoriginally in the second- and third-line settings of ovarian cancer. [PARP inhibitors] have now moved to maintenance [therapy], pancreatic cancer, prostate cancer, and others. That has changed the management of patients with BRCA-positive tumors.

Read more from the original source:
Identifying Genetic Variants, Matching With Targeted Therapies Serve as Next Great Challenge With Germline Testing in Oncology - OncLive

Science's COVID-19 coverage is supported by the Pulitzer Center.

It's one of the pandemic's puzzles: Most people infected by SARS-CoV-2 never feel sick, whereas others develop serious symptoms or even end up in an intensive care unit clinging to life. Age and preexisting conditions, such as obesity, account for much of the disparity. But geneticists have raced to see whether a person's DNA also explains why some get hit hard by the coronavirus, and they have uncovered tantalizing leads.

Now, a U.K. group studying more than 2200 COVID-19 patients has pinned down common gene variants that are linked to the most severe cases of the disease, and that point to existing drugs that could be repurposed to help. It's really exciting. Each one provides a potential target for treatment, says genetic epidemiologist Priya Duggal of Johns Hopkins University.

Kenneth Baillie of the University of Edinburgh, an intensive care physician and geneticist, led the new study, which he discussed on 2 October at an online meeting of a data-pooling effort called the COVID-19 Host Genetics Initiative. He's hoping the results, also posted as a preprint on medRxiv, will speed treatments, although he cautions that any clinical trial inspired by the findings should wait for the study's acceptance in a peer-reviewed journal. Because the epidemic is progressing at such an alarming rate, even a few months of time saved will save lots of lives, Baillie says.

A study of some of the sickest COVID-19 patients, such as those placed on ventilators, has identified gene variants that put people at greater risk of severe disease.

In a standard approach to finding genes that influence a condition, geneticists scan the DNA of large numbers of people for millions of marker sequences, looking for associations between specific markers and cases of the disease. In June, one such genome-wide association study in The New England Journal of Medicine (NEJM) found two hits linked to respiratory failure in 1600 Italian and Spanish COVID-19 patients: a marker within the ABO gene, which determines a person's blood type, and a stretch of chromosome 3 that holds a half-dozen genes. Those two links have also emerged in other groups' data, including some from the DNA testing company 23andMe.

The new study confirmed the chromosome 3 region's involvement. And because 74% of its patients were so sick that they needed invasive ventilation, it had the statistical strength to reveal other markers, elsewhere in the genome, linked to severe COVID-19. One find is a gene called IFNAR2 that codes for a cell receptor for interferon, a powerful molecular messenger that rallies the immune defenses when a virus invades a cell. A variant of IFNAR2 found in one in four Europeans raised the risk of severe COVID-19 by 30%. Baillie says the IFNAR2 hit is entirely complementary to a finding reported in Science last month: Very rare mutations that disable IFNAR2 and seven other interferon genes may explain about 4% of severe COVID-19 cases (25 September, p. 155). Both studies raise hopes for ongoing trials of interferons as a COVID-19 treatment.

A more surprising hit from the U.K. study points to OAS genes, which code for proteins that activate an enzyme that breaks down viral RNA. A change in one of those genes might impair this activation, allowing the virus to flourish. The U.K. data suggest there is a variant as common and influential on COVID-19 as the interferon genetic risk factor.

Other genes identified by Baillie's team could ramp up the inflammatory responses to lung damage triggered by SARS-CoV-2, reactions that can be lethal to some patients. One, DPP9, codes for an enzyme known to be involved in lung disease; another, TYK2, encodes a signaling protein involved in inflammation. Drugs that target those two genes' proteins are already in useinhibitors of DPP9's enzyme for diabetes and baricitinib, which blocks TYK2's product, for arthritis. Baricitinib is in early clinical testing for COVID-19, and the new data could push it up the priority list, Baillie says.

The chromosome 3 region still stands out as the most powerful genetic actor: A single copy of the disease-associated variant more than doubles an infected person's odds of developing severe COVID-19. Evolutionary biologists reported last month in Nature that this suspicious region actually came from Neanderthals, through interbreeding with our species tens of thousands of years ago. It is now found in about 16% of Europeans and 50% of South Asians.

But the specific chromosome 3 gene or genes at play remain elusive. By analyzing gene activity data from normal lung tissue of people with and without the variant, the U.K. team homed in on CCR2, a gene that encodes a receptor for cytokine proteins that play a role in inflammation. But other data discussed at last week's meeting point to SLC6Z20, which codes for a protein that interacts with the main cell receptor used by SARS-CoV-2 to enter cells. I don't think anyone at this point has a clear understanding of what are the underlying genes for the chromosome 3 link, says Andrea Ganna of the University of Helsinki, who co-leads the COVID-19 Host Genetics Initiative.

The U.K. genetics study did not confirm that the ABO variants affect the odds of severe disease. Some studies looking directly at blood type, not genetic markers, have reported that type O blood protects against COVID-19, whereas A blood makes a person more vulnerable. It may be that blood type influences whether a person gets infected, but not how sick they get, says Stanford University geneticist Manuel Rivas. In any case, O blood offers at best modest protection. There are a lot of people with O blood that have died of the disease. It doesn't really help you, says geneticist Andre Franke of the Christian-Albrecht University of Kiel, a co-leader of the NEJM study.

Researchers expect to pin down more COVID-19 risk genesalready, after folding in the U.K. data plumbed by Baillie's team, the COVID-19 Host Genetics Initiative has found another hit, a gene called FOXP4 implicated in lung cancer. And in a new med-Rxiv preprint posted last week, the company Ancestry.com reports that a gene previously connected to the effects of the flu may also boost COVID-19 susceptibility only in men, who are more likely to die of the disease than women.

Geneticists have had little luck so far identifying gene variants that explain why COVID-19 has hit Black people in the United States and United Kingdom particularly hard. The chromosome 3 variant is absent in most people of African ancestry. Researchers suspect that socioeconomic factors and preexisting conditions may better explain the increased risks. But several projects, including Baillie's, are recruiting more people of non-European backgrounds to bolster their power to find COVID-19 gene links. And in an abstract for an online talk later this month at the American Society of Human Genetics annual meeting, the company Regeneron reports it has found a genome region that may raise the risk of severe disease mainly in people of African ancestry.

Even as more genetic risk factors are identified, their overall effect on infected people will be modest compared with other COVID-19 factors, Duggal says. But studies like the U.K. team's could help reveal the underlying biology of the disease and inspire better treatments. I don't think genetics will lead us out of this. I think genetics may give us new opportunities, Duggal says.

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Found: genes that sway the course of the coronavirus - Science

By Deborah Borfitz

October 15, 2020| The Bio-IT World Conference & Expo closed out with a plenary keynote presentation on preventive genomics by Robert Green, M.D., professor of medicine at Harvard Medical School and a physician-scientist who directs the G2P Research Program at Brigham and Womens Hospital and the Broad Institute. Data-sharing difficulties were a recurring theme at this years conference but, as the COVID-19 Host Genetics Initiative has demonstrated, it is possible to combine genomic data to rapidly explore markers of disease, he says. But far more daily deaths are caused by cancer and cardiovascular diseasenot the pandemic virusand 59 of the causal genes are already known and actionable.

Genomic information is rarely incorporated into clinical care partly because labs, not care providers, are doing most of the testing and doctors are unclear if the benefits outweigh the costs and risks, says Green. The clinical value of DNA sequencing is also unproven, although its the central feature of personalized medicine programs that have been popping up around the country.

Green presented lessons learned from the MedSeq, exploring the impacts of incorporating genomic sequencing into everyday medicine for people with and without a suspected genetic cardiac disease, and BabySeq, testing methods for integrating sequencing into the care of newborns. Both are randomized trials funded by the National Institutes of Health.

MedSeq involved primary care physicians taking comprehensive family histories on participants with or without the addition of one-page genomic reports and following their outcomes. Reports from preventive genomic testing focused on defined, disease-specific variants with the highest clinical actionability, says Green, as distinct from indication-based testing looking at a wider universe of variants known or suspected of being pathogenic.

Notably, Green says, neither doctors nor patients experienced test-related anxietyeven when a monogenetic risk variant was discovered. In 100 individuals, 20% were found to carry a dominant mutation for a monogenetic condition. In fact, among the top four genetic mutations, sequencing often discovered ongoing disease that the healthcare system had missed.

Participating doctors, after only six hours of training, did not make any errors in communicating the results, adds Green. Healthcare spending six months post-disclosure was higher but not extraordinarily more. Two years later, 22% had been reclassified (e.g., variant of uncertain significance now likely benign or likely pathogenic variant now pathogenic).

In the smaller BabySeq Project, 11% of participants were identified as having monogenetic disease risk, Green says. As with MedSeq, a substantial number with genetic mutations already had phenotypic evidence of disease previously missed by their healthcare providers.

BabySeq additionally revealed no difference in bonding or vulnerability, says Green. Catastrophic distress is not an obstacle [to sequencing], as has often been suggested. The falling cost of genomic sequencing and interpretation should further improve the benefit-to-cost ratio.

Exactly how often does sequencing reveal something important? Herere the stats from Green: 91% of the time for recessive mutations, 80% for atypical responses to medications, 15% for dominant mutation, and 50% for elevated polygenic risk specific to at least one condition such as diabetes or cancer.

Polarizing Topic

The Mass General Brigham Biobank, which looked for the 59 genes linked to disease, has identified such mutations in over 350 of the roughly 36,000 people it has sequenced. In 75% if those cases, the mutations were linked to either cardiovascular disease or cancer and the individuals had no idea they were carrying mutations, says Green.

A significant number did not even want to know of their risk, he adds. A similarly high number met National Comprehensive Cancer Center criteria for genetic testing but had never before been tested.

The Preventive Genomics Clinic at Brigham and Womens Hospital, staffed by genetics experts and counselors, offers individuals a menu of testing options (whole genome sequencing as well as smaller panels) and also gives patients the option of being seen via telemedicine. The heart-touching stories shared on its website include a man nudged by discovered mutations to finally get a colonoscopy, revealing two cancerous lesions that were subsequently extracted, and another with worsening heart disease who learned the underlying cause was Fabry diseasea rare but treatable condition.

Genomics is a notoriously polarizing subject, Green says. The challenge in convincing the skeptics is that genomics crosses multiple therapeutic domains and testing needs to be repeated over individuals lifetime.

The exceptionalism of genomics is sometimes misplaced, he later adds, referring to the disproportionate amount of fear about misuse of genetic information relative to psychological or infectious disease data. Its perfectly possible for large groups to share genomic data that is not identifiable. Its not full-proof, but its [technically] feasible.

Federal genetic privacy laws prevent genetics-based discrimination by employers and health insurers, Green says. In July, Florida became the first state in the nation to enact a DNA privacy law that also prohibits life, disability and long-term care insurance companies from using genetic tests for coverage purposes.

Editors Note: Even if you missed the start of the event, Bio-IT World Conference & Expo virtualis still live. Register nowfor on-demand presentations.

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Proving The Value Of Preventive Genomics - Bio-IT World

PHILADELPHIA, Oct. 13, 2020 (GLOBE NEWSWIRE) -- Passage Bio, Inc. (NASDAQ: PASG), a genetic medicines company focused on developing transformative therapies for rare, monogenic central nervous system disorders, today announced publication of data in a murine model of GM1 gangliosidosis (GM1) demonstrating that a single intracerebroventricular injection of an optimized adeno-associated virus (AAV) into the cerebral spinal fluid (CSF) resulted in significant expression of Beta-galactosidase (-gal) in the brain and peripheral tissues, and demonstrated dose-related reductions in neuronal lysosomal storage lesions, neurological impairment and improvement in survival. These data were published online ahead of print in the November issue of the peer-reviewed scientific journal Human Gene Therapy (HGT).

This study suggests that delivery of an AAV vector optimized to express b-gal directly into the CSF restored b-gal activity in the brain and, if further developed and tested in human clinical trials, may be effective in modifying and preventing the devastating effects of the genetic disease GM1, said James Wilson, M.D., Ph.D., director of the Gene Therapy Program at the University of Pennsylvania (Penn) and chief scientific advisor of Passage Bio. The AAV vector used in the study is the same as Passage Bios PBGM01 gene therapy, which is designed to deliver a functional human GLB1 gene into the brain and optimized to express -gal. These preclinical study data support the further development of PBGM01 as a potential therapy for patients suffering from GM1.

GM1 is a rare and often life-threatening monogenic lysosomal storage disease caused by mutations in the GLB1 gene, which encodes lysosomal acid -gal. Reduced -gal activity results in the accumulation of toxic levels of GM1 in neurons throughout the brain, causing rapidly progressing neurodegeneration. GM1 manifests as a continuum of disease and is most severe in the infantile form, which is characterized by onset in the first six months of life with hypotonia (reduced muscle tone), progressive CNS dysfunction, and rapid developmental regression. Life expectancy for infants with GM1 is two to four years, and infantile GM1 represents approximately 60 percent of the incidence of 0.5 to 1 in 100,000 live births. Currently, there are no approved disease-modifying therapies available.

Results of the PBGM01 preclinical study were reported in the paper titled, A single injection of an optimized AAV vector into cerebrospinal fluid corrects neurological disease in a murine model of GM1 gangliosidosis, by Christian Hinderer, M.D., Ph.D., and colleagues, including gene transfer pioneer Dr. Wilson, from the Gene therapy Program, Department of Medicine, University of Pennsylvania Perlman School of Medicine. The study in part was previously presented at the 22nd annual Meeting of the American Society for Cell and Gene Therapy (ASCGT) in 2019.

This research evaluated the impact of single intracerebroventricular administration of the human -gal containing AAV vector on -galactosidase enzyme activity in the murine brain and peripheral tissues, lysosomal storage lesions, neurological function (including neurological exams and gait analysis) and survival in mice lacking the -galactosidase gene. The mice received the single administration at age one month and were evaluated over 300 days. -gal activity was increased significantly in the cerebral spinal fluid and serum of the vector-treated mice compared to vehicle control-treated mice. Significant improvements in gait assessments as measured by stride length and hind paw print length and significant preservation of neurological function as measured by neurological exam scores were observed throughout the study period in the human -gal vector-treated mice. There were significant decreases in lysosomal storage lesions of vector-treated animals and by day 300 all animals that received the two highest doses were still alive, whereas none of the vehicle control-treated animals had survived.

Were excited about being able to soon advance PBGM01 into the clinic, and the potential promise it holds for patients with GM1, the majority of whom are infants and for whom there are no approved disease modifying treatments, said Bruce Goldsmith, Ph.D., president and chief executive officer of Passage Bio. Our plan is to administer PBGM01 through intra-cisterna magna delivery into the brain, which we believe may offer several benefits in terms of safety, efficiency and distribution compared to other approaches.

Passage Bio expects to initiate dosing of PBGM01 in a Phase 1/2 trial late in the fourth quarter of 2020 or early in the first quarter of 2021 and remains on track to report initial 30-day safety and biomarker data late in the first half of 2021.

This research was supported by a research, collaboration and license agreement with Passage Bio. HGT is the Official Journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German Society of Gene Therapy, and five other gene therapy societies. Click here to read the full-text article on the HGT website.

About PBGM01PBGM01 is an AAV-delivery gene therapy currently being developed for the treatment of infantile GM1, in which patients have mutations in the GLB1 gene causing little or no residual -gal enzyme activity and subsequent neurodegeneration. PBGM01 utilizes a next-generation AAVhu68 capsid administered through intra-cisterna magna (ICM) to deliver a functional GLB1 gene encoding -gal to the brain and peripheral tissues. By reducing the accumulation of GM1 gangliosides, PBGM01 has the potential to halt or prevent neuronal toxicity, thereby restoring developmental potential. In preclinical models, PBGM01 has demonstrated broad brain distribution and wide uptake of the -gal enzyme in both the central nervous system (CNS) and critical peripheral organs, suggesting potential treatment for both the CNS and peripheral manifestations of GM1. The Company has received Orphan Drug and Rare Pediatric Disease designation for PBGM01 for patients with GM1 and expects to initiate dosing of its Phase 1/2 trial late in the fourth quarter of 2020 or early in the first quarter of 2021 and remains on track to report initial 30-day safety and biomarker data late in the first half of 2021.

About Passage BioPassage Bio is a genetic medicines company focused on developing transformative therapies for rare, monogenic central nervous system disorders with limited or no approved treatment options. The company is based in Philadelphia, PA and has a research, collaboration and license agreement with the University of Pennsylvania and its Gene Therapy Program (GTP). The GTP conducts discovery and IND-enabling preclinical work and Passage Bio conducts all clinical development, regulatory strategy and commercialization activities under the agreement. The company has a development portfolio of six product candidates, with the option to license eleven more, with lead programs in GM1 gangliosidosis, frontotemporal dementia and Krabbe disease.

University of Pennsylvania (Penn)Financial DisclosureDr. Wilson is a Penn faculty member and also a scientific collaborator, consultant and co-founder of Passage Bio. As such, he holds an equity stake in the company, receives sponsored research funding from Passage Bio, and as an inventor of certain Penn intellectual property that is licensed to Passage Bio, he may receive additional financial benefits under the license in the future. He is an inventor of intellectual property covering the technology described in paper published in HGT that is licensed from Penn to Passage Bio, and he may receive financial benefits under this license in the future. Penn also holds equity and licensing interests in Passage Bio.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of, and made pursuant to the safe harbor provisions of, the Private Securities Litigation Reform Act of 1995, including, but not limited to: our expectations about timing and execution of anticipated milestones, including our planned IND submissions, initiation of clinical trials and the availability of clinical data from such trials; our expectations about our collaborators and partners ability to execute key initiatives; our expectations about manufacturing plans and strategies; our expectations about cash runway; and the ability of our lead product candidates to treat the underlying causes of their respective target monogenic CNS disorders. These forward-looking statements may be accompanied by such words as aim, anticipate, believe, could, estimate, expect, forecast, goal, intend, may, might, plan, potential, possible, will, would, and other words and terms of similar meaning. These statements involve risks and uncertainties that could cause actual results to differ materially from those reflected in such statements, including: our ability to develop and obtain regulatory approval for our product candidates; the timing and results of preclinical studies and clinical trials;; risks associated with clinical trials, including our ability to adequately manage clinical activities, unexpected concerns that may arise from additional data or analysis obtained during clinical trials, regulatory authorities may require additional information or further studies, or may fail to approve or may delay approval of our drug candidates; the occurrence of adverse safety events; the risk that positive results in a preclinical study or clinical trial may not be replicated in subsequent trials or success in early stage clinical trials may not be predictive of results in later stage clinical trials; failure to protect and enforce our intellectual property, and other proprietary rights; our dependence on collaborators and other third parties for the development and manufacture of product candidates and other aspects of our business, which are outside of our full control; risks associated with current and potential delays, work stoppages, or supply chain disruptions caused by the coronavirus pandemic; and the other risks and uncertainties that are described in the Risk Factors section in documents the company files from time to time with theSecurities and Exchange Commission(SEC), and other reports as filed with theSEC. Passage Bio undertakes no obligation to publicly update any forward-looking statement, whether written or oral, that may be made from time to time, whether as a result of new information, future developments or otherwise.

For further information, please contact:

Investors:Sarah McCabe and Zofia MitaStern Investor Relations, Inc.212-362-1200sarah.mccabe@sternir.comzofia.mita@sternir.com

Media:Gwen FisherPassage Bio215.407.1548gfisher@passagebio.com

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Passage Bio Announces Publication of Preclinical Data That Show Single Injection of Optimized AAV Vector into Cerebral Spinal Fluid - BioSpace

BALA CYNWYD, Pa., Oct. 13, 2020 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Nasdaq:LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases,today announced the formation of its Scientific Advisory Board (SAB). Larimars SAB is comprised of distinguished research scientists, professors and industry experts recognized as key opinion leaders in the fields of rare disease, pediatrics and mitochondrial disease.

Larimar is privileged to have this group of prestigious, multidisciplinary advisors who are committed to advancing the research and development of CTI-1601 for Friedreichs ataxia, said Nancy M. Ruiz, MD, FACP, FIDSA, Chief Medical Officer of Larimar Therapeutics. Their scientific perspectives will be invaluable to determine our strategic scientific pathway and support the development of other potential treatments for complex rare diseases to help fill unmet medical needs in this space.

Formalizing the SAB adds to our recent accomplishments, which include resuming our Phase 1 clinical trial of CTI-1601 for Friedreichs ataxia and receiving a positive opinion on orphan drug designation for CTI-1601 from the European Medicines Agencys Committee for Orphan Medicinal Products, said Carole Ben-Maimon, MD, President and Chief Executive Officer of Larimar Therapeutics. This progress helps position Larimar for success as we continue to execute our strategy of developing treatments for complex rare diseases.

The members of Larimars SAB are as follows:

About Larimar TherapeuticsLarimar Therapeutics, Inc. (Nasdaq:LRMR), is a clinical-stage biotechnology company focused on developing treatments for complex rare diseases. The companys lead compound, CTI-1601, is currently being evaluated in a Phase 1 clinical program in the U.S. as a potential treatment for Friedreichs ataxia, a rare and progressive genetic disease. Larimar also plans to use its intracellular delivery platform to design other fusion proteins to target additional rare diseases characterized by deficiencies in intracellular bioactive compounds. For more information, please visit: https://larimartx.com.

Investor Contact:Joyce AllaireLifeSci Advisors, LLC(212) 915-2569jallaire@lifesciadvisors.com

Media Contact:Gina Cestari6 Degrees(917) 797-7904gcestari@6degreespr.com

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Larimar Therapeutics Announces Formation of Scientific Advisory Board - GlobeNewswire