Syndicate content

Archive - 2020 - Story

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 (https://medicine.vumc.org/person/lorraine-b-ware-md), 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 (https://www.nejm.org/doi/full/10.1056/NEJMoa2026834). 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) (https://www.ashg.org/meetings/2020meeting/). 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 (https://www.ashg.org/meetings/2020meeting/)and six winners are selected to receive an additional $1,000 each. A list of this year’s finalists and semifinalists is provided here (https://www.ashg.org/wp-content/uploads/2020/10/ASHG20_Epstein_WebListin...).

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) (https://www.ashg.org/meetings/2020meeting/). 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.

2020 Cotterman Awards Recognize Two Outstanding Recent Articles in the American Journal of Human Genetics in Which First Authors Are Young Trainees and Members of the ASHG; Awards Described at ASHG 2020 Virtual Annual Meeting (October 27-30)

Each September, the editorial board of The American Journal of Human Genetics, selects two articles that best represent outstanding contributions to the field of genetics. The two awards are presented for the best papers published in AJHG during the previous year, on which the first author was either a pre- or post-doctoral trainee and is an ASHG member. The awards each feature a $1,000 prize and accompanying plaque and are normally presented as part of the annual American Society of Human Genetics meeting each year. This year’s ASHG meeting is virtual. The 2020 recipients are Xiaowen Tian (photo at top left) and Andrew Glazer (photo at bottom left), PhD. Xiawn Tian is a PhD student in Biostatistics at the University of Washington. She graduated from the University of Washington with a BS in Mathematics and Statistics and is working with Dr. Sharon Browning on topics related to population genetics. Currently, Ms. Tian is working on estimating genome-averaged mutation rate. In the long run, Ms. Tian is interested in extend the work to a shorter region of the genome. Ms. Tian’s award-winning article was published in the November 7, 2019 issue of the American Journal of Human Genetics and is titled “Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent” (https://www.ashg.org/wp-content/uploads/2020/09/20202-Cotterman-Award-Xi...). Andrew Glazer, PhD, is a postdoctoral fellow in the Vanderbilt University Medical Center (VUMC) laboratory of Dr. Dan Roden. Dr. Roden is Interim Director, Division of Cardiovascular Medicine; Director, Oates Institute for Experimental Therapeutics; Professor of Medicine and Pharmacology, and Biomedical Informatics; and Senior Vice President for Personalized Medicine at VUMC. Dr. Glazer joined Dr. Roden’s lab in 2015.

American Society of Human Genetics Honors Benjamin Neale, PhD, with ASHG 2020 Early-Career Award at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Benjamin Neale (photo), PhD, as the recipient of the 2020 Early-Career Award (https://www.ashg.org/membership/awards/early-career/). Dr. Neale is the Director of the Genomics of Public Health Initiative at Massachusetts General Hospital (MGH). He is also an Associate Professor at Harvard Medical School, an Institute Member in the Medical and Population Genetics program of the Broad Institute, and the Director of Genetics for the Stanley Center for Psychiatric Research at the Broad Institute. This award, which includes a plaque and a $10,000 prize, recognizes the contributions of genetics and genomics scientists in the first ten years of their careers as independent investigators. “Early in his career, Dr. Benjamin Neale focused heavily on the development and application of statistical methodology for genetic analysis,” said ASHG President Anthony Wynshaw-Boris, MD, PhD, Chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. “He has a remarkably strong track record of conducting analyses for genetic data with a heavy focus on psychiatric illness, particularly ADHD and Autism. His studies have the potential to understand novel pathways responsible for psychiatric disease and influence the development of new diagnoses and treatments.” “Since the early years of his training, Ben has made numerous contributions to statistical genetics methodologies (and is widely considered a leading expert across this field), but much more than this has been a driving force in both the development and engineering of computational methods fundamental to our field in the era of large-scale genomic data,” said Mark J. Daly, PhD, Chief of the Analytic and Translational Genetics Unit at Massachusetts General Hospital, in his nomination letter.

American Society of Human Genetics Honors Josée Dupuis, PhD, with the ASHG 2020 Mentorship Award, at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Josée Dupuis (photo), PhD, as the recipient of the 2020 Mentorship Award. Dr. Dupuis is a Professor and Chair of Biostatistics at the Boston University School of Public Health. This award, which includes a plaque with a $10,000 prize, recognizes ASHG members who have significant records of accomplishment as mentors. It is open to individuals at all academic ranks who have shown a sustained pattern of exemplary mentorship at the graduate student, postdoctoral, residency, or fellowship level. “The ASHG is fortunate to be able to recognize Dr. Josée Dupuis,” said ASHG President Anthony Wynshaw-Boris,MD, PhD, Chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. “Dr. Dupuis is an exemplary scientist who has also devoted herself to the professional development of others through generous and thoughtful mentorship,” he said. “I congratulate Dr. Dupuis on this well-deserved honor.”This award, and many other ASHG 2020 annual awards, were originally announced in July 2020, and pre-recorded awardee acceptance remarks are available as part of the ASHG 2020 Virtual Annual Meeting (October 27-30) (https://www.ashg.org/meetings/2020meeting/). Access to the ASHG annual award remarks is included as part of the registration fee for the ASHG 2020 Virtual Meeting (https://www.ashg.org/meetings/2020meeting/attendees/virtual-registration/). The pre-recorded awardee acceptance remarks will be available on-demand throughout the virtual meeting (with availability beginning October 26, the day before the official start of the meeting). In addition, the awardee acceptance remarks, and all ASHG 2020 Virtual Annual Meeting sessions, will be available on-demand to all meeting registrants for 12 months following the meeting. See link to Dr.

American Society of Human Genetics Honors Kenneth Lange, PhD, with the ASHG 2020 Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education, at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Kenneth Lange (photo), PhD, as the 2020 recipient of the Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education (https://www.ashg.org/membership/awards/education/). Dr. Lange is the Rosenfeld Professor of Computational Genetics in the Departments of Human Genetics, Computational Medicine, and Statistics at the University of California, Los Angeles (UCLA). This award, which includes a plaque with a $10,000 prize, recognizes individuals for contributions of exceptional quality and importance to human genetics education internationally. Awardees have had long-standing involvement in genetics education, producing diverse contributions of substantive influence on individuals and/or organizations. “The Society is pleased to recognize Dr. Kenneth Lange for his contribution to science education at all levels, from graduate students to postdoctoral fellows,” said ASHG President Anthony Wynshaw-Boris, MD, PhD, Chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. “Besides being an extraordinarily talented scientist, Dr. Lange’s devotion to education will continue as his students yield exciting discoveries for the field of human genetics into the future.”In her nomination letter, Nancy Cox, PhD, the Mary Phillips Edmonds Gray Professor of Genetics and Director of the Vanderbilt Genetics Institute and the Division of Genetic Medicine at Vanderbilt University, stated, “Genetics is among the most quantitative of the biological sciences, and there has always been a critical need to not only educate general students of human genetics in the mathematic and statistical aspects of the science, but also to attract and educate the most quantitative of these students to seed the further development of quantitative human genetics.

American Society of Human Genetics Honors Janina Jeff, PhD, with 2020 Advocacy Award for “In Those Genes” Podcast and Other Inspirational Efforts, at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Janina Jeff (photo), PhD, MS, as the 2020 recipient of the Society’s Advocacy Award (https://www.ashg.org/membership/awards/advocacy/). Dr. Jeff is the host and executive producer of “In Those Genes,” described as “a hip-hop inspired podcast that uses genetics to uncover the lost identities of African descended Americans through the lens of Black Culture.” You may view sample podcast at https://www.youtube.com/watch?v=BldybNBDqv0. Dr. Jeff is a Senior Scientist at Illumina, a company at the intersection of biology and technology. This award, which includes a plaque with a $10,000 prize, honors individuals or groups who have exhibited excellence and achievement in applications of human genetics for the common good, in areas such as facilitating public awareness of genetics issues, promoting funding for biomedical research, and integrating genetics into health systems. “Dr. Janina Jeff’s groundbreaking podcast ‘In Those Genes’ has provided fundamental insight into genetics and the exploration of the lost identities of African-descended Americans through the lens of Black culture,” said ASHG President Anthony Wynshaw-Boris, MD, PhD, Chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. “She is also an inspiring leader with a deep commitment to educating others and is a very important spokesperson in human genetics for a wider audience beyond scientists.” “In the wake of COVID-19, the podcast has quickly evolved as a forum dispensing scientific and medical truths and dispelling rumors and conspiracy theories circulating in the Black community on social media,” said Dana Crawford, PhD, Associate Professor, Department of Population and Quantitative Health Services, Case Western University, in her nomination letter. Dr.