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Archive - Oct 2020

October 29th

Regeneron's Antibody Cocktail Inmazeb® Is First FDA-Approved Treatment for Ebola (Zaire Ebolavirus); Novel Anti-Viral Antibody Medicine Developed Using Same “Rapid Response” Technologies As Regeneron’s Investigational COVID-19 Antibody Combination

On October 14, 2020, Regeneron Pharmaceuticals, Inc. (NASDAQ: REGN) announced that the U.S. Food and Drug Administration (FDA) had approved Inmazeb® (atoltivimab, maftivimab, and odesivimab-ebgn) for the treatment of infection caused by Zaire ebolavirus in adult and pediatric patients, including newborns of mothers who have tested positive for the infection. “We are incredibly proud that the FDA has approved Inmazeb, which is also known as REGN-EB3. This is the first time the FDA has approved a treatment specifically for Ebola, which has caused a number of deadly outbreaks,” said George D. Yancopoulos, MD, PhD, President and Chief Scientific Officer of Regeneron. “Decades of investment in our VelociSuite® rapid response technologies, the dedication of world-class scientists, and the courageous contributions of healthcare providers and patients, together with remarkable cooperation between leading international health organizations and governments, have led to this important moment. As we apply the same sophisticated technologies and manufacturing capabilities against COVID-19, we hope this will be one of many demonstrations of how the power of science can be successfully deployed against dangerous infectious diseases.” As part of an agreement announced ( in July 2020 (, Regeneron will deliver an established number of Inmazeb treatment doses over the course of six years to the Biomedical Advanced Research and Development Authority (BARDA), as part of the U.S. Department of Health and Human Services’ (HHS) goal of building national preparedness for public health emergencies.

Regeneron's Ongoing COVID-19 Phase 2/3 Outpatient Trial Prospectively Demonstrates REGN-COV2 Antibody Cocktail Significantly Reduced Virus Levels & Reduced Need for Further Medical Attention

On October 28, 2020, Regeneron Pharmaceuticals, Inc. (NASDAQ: REGN) announced positive, prospective results from an ongoing Phase 2/3 seamless trial in the COVID-19 outpatient setting showing its investigational antibody cocktail, REGN-COV2, met the primary and key secondary endpoints. REGN-COV2 significantly reduced viral load and patient medical visits (hospitalizations, emergency room, urgent care visits, and/or physician office/telemedicine visits). "The first job of an antiviral therapeutic drug is to lower the viral load, and our initial data in 275 patients strongly suggested that the REGN-COV2 antibody cocktail could lower viral load and thereby potentially improve clinical outcomes. Today's analysis, involving more than 500 additional patients, prospectively confirms that REGN-COV2 can indeed significantly reduce viral load and further shows that these viral reductions are associated with a significant decrease in the need for further medical attention," said George D. Yancopoulos, MD, PhD, President and Chief Scientific Officer of Regeneron. "We continue to see the strongest effects in patients who are most at risk for poor outcomes due to high viral load, ineffective antibody immune response at baseline, or pre-existing risk factors. Regeneron has shared these results with the U.S. Food and Drug Administration as part of its review of our Emergency Use Authorization submission, and we continue to focus on completing our ongoing trials evaluating REGN-COV2 for the treatment and prevention of COVID-19."

Genome-Wide Analysis ID’s Genetic Effects on Reproductive Success & Ongoing Natural Selection at FADS Locus; FADS1/2 Allele Represents Perhaps Only Example of Genetic Variant with Evidence of Both Ancient & Ongoing Selection, Scientists Say at ASHG 2020

An international team of researchers who identified genetic variants associated with reproductive success say their findings could highlight mechanisms underlying fertility and infertility. In addition, their analyses detected genetic alleles under present-day selection, providing an insight into the nature of ongoing natural selection in humans. Iain Mathieson, PhD, a population geneticist at the University of Pennsylvania, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting. The title of his presentation was “Genome-Wide Analysis Identifies Genetic Effects on Reproductive Success and Ongoing Natural Selection at the FADS Locus,” and was delivered in the ASHG’s Thursday morning session “Natural Selection on Polygenic Traits and Omics.” “This study is of interest in relation to our findings on reproductive biology and potential links to infertility,” says co-author of the study Melinda Mills, PhD, Director of the Leverhulme Centre for Demographic Science at the University of Oxford (UK). “But it also empirically tests one of the most gripping and fundamental questions asked by scientists across many disciplines and decades: Is there evidence of ongoing natural selection in humans and, if so, what is it and how does it operate?” The new study builds upon previous research on the genetic bases of reproductive behavior (timing and number of children) and reproductive development to identify individual genetic determinants of number of children ever born or childlessness. The researchers performed genome-wide association studies (GWAS) in up to 785,604 individuals of European ancestry and identified 43 genetic loci associated with either number of children ever born or childlessness.

First Results of COVID-19 Host Genetics Initiative (HGI) Study Announced at ASHG 2020 Virtual Annual Meeting (October 27-30)

The COVID-19 pandemic is a global health crisis. Insights into why some people develop more severe symptoms than others and how to better treat the disease are desperately needed. The COVID-19 Host Genetics Initiative ( was created to study the relationship between variation in the human genome and SARS-CoV-2 infection. This is an ongoing, international, collaborative effort to learn the genetic determinants of COVID-19 susceptibility, severity, and outcomes. Andrea Ganna, PhD, EMBL-group leader at the Institute for Molecular Medicine Finland and an instructor at Harvard Medical School and Massachusetts General Hospital, presented the results of the Initiative’s first genome-wide association studies and follow-up analyses at the American Society of Human Genetics 2020 Virtual Meeting. The COVID-19 Host Genetics Initiative (HGI) was formed in March 2020 as a way to bring together the international human genetics community to generate, share, and analyze data related to COVID-19 infection and outcomes. The decentralized Initiative has three main goals: (1) to provide an environment to foster resource-sharing to facilitate COVID-19 host genetics research; (2) to organize analytical activities across studies to identify genetic determinants of COVID-19 susceptibility, severity, and outcomes; and (3) to provide a platform to share results, as well as individual-level data, from such studies. By June 2020, the HGI included 190 studies from 46 countries and more than 1,100 researchers. “Our biggest accomplishment so far is bringing this community together,” says Dr. Ganna. “One of our strengths is the inclusion of researchers from countries that are underrepresented in large genetic consortia, such as Qatar and Brazil.” Collaboration is essential for battling a global pandemic, says Dr. Ganna.

Genetics & COVID-19 Pandemic Are Focus of Special Session at ASHG 2020 Virtual Annual Meeting (October 27-30); On Wednesday, Six Researchers Reported Recent Data on Susceptibility and Severity in “Late-Breaking COVID-19 Research Update” Session

With the COVID-19 pandemic still raging worldwide, members of the American Society of Human Genetics (ASHG) are working to understand how the virus spreads and infects people, why there is so much variability in susceptibility and severity, and where to look for potential therapeutics. On Wednesday, October 28, six researchers presented recent results of several studies relevant to the current pandemic at the ASHG 2020 Virtual Annual Meeting (October 27-30). So far, this meeting has attracted over 6,000 registrants from more than 80 countries around the world. Approximately 1,000 of these registrants tuned in for this special timely session titled “Late-Breaking COVID-19 Research Update.” COVID-19 symptoms vary widely, ranging from asymptomatic in some patients to fatal in others. Elucidating the role of human genetic variation could result in a better understanding of susceptibility to infection, as well as of differences in patient presentation and outcomes. Three studies addressed human genetics and COVID-19 susceptibility and severity. In the first, Jack Kosmicki, Regeneron Genetics Center, and colleagues presented the results of the largest trans-ancestry exome sequencing study of COVID-19 to date. In a replication of previous findings, the researchers identified the 3p21.31 locus and suggested it contributes to variability in severity. The group failed to replicate an association between COVID-19 and the ABO locus, suggesting that the previous finding may have been a false positive. Beyond previously reported associations, Kosmicki and colleagues also identified three novel loci and three genes associated with COVID-19.

October 28th

Boehringer Ingelheim Begins Phase 2 Clinical Trial of Targeted Therapy to Help People with Severe Respiratory Illness from COVID-19

On October 28, 2020, Boehringer Ingelheim announced the initiation of a Phase 2 clinical trial of BI 764198, an inhibitor of TRPC6, a receptor-operated cation channel. This potent and selective inhibitor of TRPC6 may alleviate the damage to the lung and decrease the risk or severity of acute respiratory complications in patients hospitalized for COVID-19. The aim of therapy with BI 764198 is to reduce the need for ventilator support, to improve patient recovery rate, and ultimately to save lives. Boehringer Ingelheim is committed to fighting COVID-19 and contributing, with its expertise and resources, to the development of new therapeutic options for patients suffering from the virus’ severe complications. “COVID-19 can cause serious lung complications, such as viral pneumonia, and, in severe cases, can lead to acute respiratory distress syndrome (ARDS) and lung failure,” said Lorraine B. Ware (, MD, Ralph and Lulu Oven Endowed Chair and Professor of Medicine, and Pathology, Microbiology and Immunology, Vanderbilt University Medical Center. “Patients hospitalized with ARDS due to COVID-19 are often unable to breathe on their own and may require life support from a mechanical ventilator to help supply oxygen to the body. While we hope that future vaccines will help reduce cases of severe COVID-19, there remains an unmet need to address respiratory complications in infected patients, and provide healthcare professionals an effective alternative to mechanical ventilation that can potentially reduce the treatment burden within the hospital setting.” Approximately 15% of patients infected with SARS-CoV-2 develop severe disease and up to 30% of severely ill patients may require medical care in an intensive care unit (ICU).

October 27th

Tuesday’s Opening of ASHG 2020 Virtual Annual Meeting (October 27-30) Features Report of Research That Is Described in NEJM Article Published Today--“Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease”

The American Society of Human Genetics (ASHG) 2020 Virtual Annual Meeting (October 27-30) opened today (Tuesday) and one of the highlights of many stimulating presentations was a talk entitled “Somatic Mutations in a Single Residue of UBA1 Are Associated with a Severe Adult-Onset Autoinflammatory Disease” (Abstract #1052). The ASHG meeting presentation was delivered by David B. Beck, MD, PhD, Clinical Fellow, Inflammatory Disease Section, National Human Genome Research Institute, NIH. At the end of his presentation, Dr. Beck noted that the work he just described was published online today (October27, 2020) in the New England Journal of Medicine ( Dr. Beck is the first author on the NEJM article. In the abstract for today’s ASHG talk, Dr. Beck and colleagues noted that identifying the causes of adult-onset diseases remains a challenge in clinical genomics, and limits targeted diagnosis, prognosis, and treatment. The researchers hypothesized that mutations in genes regulating the post-translational modification of ubiquitin, previously implicated in inflammatory diseases, may define new rheumatologic disorders. Using a genotype-first approach, agnostic to inheritance or phenotype, the group analyzed peripheral blood exome sequence data from 2,560 individuals with inflammation-related diagnoses for deleterious mutations in highly-constrained genes. After discovering three patients with novel, somatic, UBA1 mutations at the same residue, the researchers identified and characterized additional cases based on clinical similarities.

October 26th

Study Reveals 33% Higher Relative Odds of Penicillin Allergy Associated with HLA-B*55:01 Allele in European Population; Insights into Genetic Architecture of Penicillin Allergy Described in Abstract at ASHG 2020 Virtual Annual Meeting (October 27-30)

Researchers have announced the first robust evidence for the role of the major histocompatibility complex gene HLA-B in penicillin allergy. To identify genetic risk factors for penicillin allergy, the international team of researchers harnessed self-reported data and the electronic health records of more than 600,000 people, as well as replicating their findings in two independent research cohorts involving more than 1 million individuals. Kristi Krebs (photo), PhD, of the University of Tartu in Estonia, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting (October 27-30) ( Penicillin is a life-saving antibiotic, but also the most common cause of drug allergy, with manifestations ranging from temporary skin reactions to life-threatening systemic syndromes. However, the role of genetic factors influencing the susceptibility to penicillin allergy has remained largely unknown. Dr. Krebs and her colleagues collected data from the electronic health records of more than 600,000 people of European ancestry from UK, Estonian, and Vanderbilt University Medical Center’s BioVU biobanks. They conducted a genome-wide association study in all three cohorts and the results were further meta-analyzed. The analyses revealed a significant signal coming from the human leukocyte antigen (HLA) region on chromosome 6. HLA is the human version of the major histocompatibility complex (MHC), a gene group that occurs in many species. This gene group is involved in the immune system’s ability to distinguish the body’s own proteins from proteins made by foreign invaders, such as viruses and bacteria.

American Society of Human Genetics Describes Epstein Trainee Awards (18 Finalists & 42 Semi-Finalists) for Excellence in Human Genetics Research at ASHG 2020 Virtual Annual Meeting (October 27-30); 6 Winners to Be Announced

The American Society of Human Genetics annually honors excellence in research conducted by predoctoral and postdoctoral trainees (including genetic counseling trainees) through merit-based awards that recognize highly competitive abstracts submitted and presented at the ASHG Annual Meeting. These awards were renamed in 2012 to honor the late Dr. Charles Epstein, who was a past president of ASHG, former editor of AJHG, and winner of both the William Allan Award and the McKusick Leadership Award. Currently, the total value of ASHG’s Trainee Awards is approximately $70,000 annually. Abstract scoring is completed by the ASHG Program Committee, and 60 top-ranking trainee-authored abstracts (semifinalists who received $750 plus complimentary Annual Meeting registration) were submitted to the Awards Committee, which then selected 18 finalists (who receive an additional $250) prior to the Annual Meeting. Finalists’ presentations are judged by Awards Committee members at the ASHG 2020 Virtual Annual Meeting ( six winners are selected to receive an additional $1,000 each. A list of this year’s finalists and semifinalists is provided here (

Cell-Free DNA Provides Dynamic Window into Health; Results Described in Abstract at American Society of Human Genetics 2020 Virtual Annual Meeting (October 27-30)

Short fragments of cell-free DNA (cfDNA) that circulate in blood, urine, and other biofluids can offer an information-rich window into human physiology and disease. By looking at the methylation markers of cfDNA, researchers can identify the tissue from which the DNA came. A new study used this method to monitor infectious and immune-related diseases, including COVID-19 infection, and demonstrate the potential clinical applications of this technology. Alexandre Cheng, BSc, a doctoral student in biomedical engineering at Cornell University, presented the results of the study at the American Society of Human Genetics 2020 Virtual Meeting (October 27-30) ( cfDNA tests have already impacted clinical patient care. For example, non-invasive prenatal testing uses cfDNA to screen for anatomic or physiological problems with the fetus and multiple clinical trials are underway to evaluate cfDNA for monitoring transplant rejection. Originating from dead cells, cfDNA is ubiquitous in bodily fluids. During infection or immune-related diseases that cause tissue damage, one would expect to see an increased amount of cfDNA from the attacked tissue. To identify tissues-of-origin of cfDNA, Mr. Cheng and his colleagues analyzed the methylation markers of DNA, which are tissue-specific, through a process called whole-genome bisulfite sequencing. The researchers performed this process on cfDNA from the biofluids of various patients to screen for tissue damage in three different disease settings. In an exciting and currently relevant application, the researchers sequenced plasma-derived cfDNA from COVID-19 patients. They observed high initial lung- and liver-derived cfDNA, which decreased as patients recovered, but also significant increases of erythroblast cfDNA.