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Archive - Oct 2020

October 26th

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.

American Society of Human Genetics Honors Fowzan S. Alkuraya, MD, with the ASHG 2020 Curt Stern Award for Significant Scientific Contributions in Past Decade, at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Fowzan S. Alkuraya, MD, as the 2020 recipient of the Curt Stern Award (https://www.ashg.org/membership/awards/curt-stern/). Dr. Alkuraya is a Professor of Human Genetics at Alfaisal University and a Senior Consultant and Principal Clinical Scientist at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. This annual award, which includes a plaque and a $10,000 award, is named for the late pioneering geneticist Curt Stern, PhD, and recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. “Dr. Fowzan S. Alkuraya is an exemplary physician-scientist who has taken his clinical observations into basic research in the laboratory,” 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. “In returning to his home country of Saudi Arabia, he seized the opportunity to use his talents as a human and medical geneticist to serve a population with an increased burden of genetic diseases. We are honored to present him with the Curt Stern Award for his dedicated efforts to conduct research in human genetics.” “Dr. Alkuraya has made remarkable scientific achievements in human and medical genetics during the last 10 years,” noted Cynthia C. Morton, PhD, William Lambert Richardson Professor of Obstetrics, Gynecology, and Reproductive Biology and Professor of Pathology at Harvard Medical School, who nominated this year’s awardee. 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/).

American Society of Human Genetics Honors Peter Byers, MD, with the 2020 Victor A. McKusick Leadership Award at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Peter H. Byers, MD, as the 2020 recipient of the Victor A. McKusick Leadership Award (https://www.ashg.org/membership/awards/mckusick/). Dr. Byers is a Professor in the Department of Pathology and Department of Medicine (Division of Medical Genetics) at the University of Washington School of Medicine in Seattle, where he has spent his entire academic career (fellow in Medical Genetics and then a member of the faculty since 1977). This award, which includes a plaque with a $10,000 prize, is named in honor of the late Victor A. McKusick, MD, the so-called “Father of Medical Genetics,” and is bestowed upon an individual who has exhibited exemplary leadership and vision in advancing the ASHG mission through the promotion and successful assimilation of genetics and genomics knowledge into the broader scientific community in areas ranging from science, medicine, public policy, and/or health. “The Society recognizes the importance of Dr. Peter Byers’ creative research on the molecular pathogenesis of inherited disorders of connective tissue and its illumination of potential paths forward for understanding and treating disorders that affect collagen genes and the enzymes involved in the post-translational modification of collagens,” 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. “In addition, we recognize Dr. Byers’s leadership in nearly all facets of the American Society of Human Genetics, including as Editor of The American Journal of Human Genetics and as President of our Society.

American Society of Human Genetics Honors Mary-Claire King, PhD, with the 2020 William Allan Award, the Society’s Top Award, at ASHG 2020 Virtual Annual Meeting (October 27-30)

The American Society of Human Genetics (ASHG) has honored Mary-Claire King (photo), PhD, American Cancer Society Professor of Medicine and Genome Sciences at the University of Washington, as the 2020 recipient of the annual William Allan Award (https://www.ashg.org/membership/awards/william-allan/), the top annual prize awarded by the ASHG. The William Allan Award, which carries a $25,000 prize, recognizes substantial and far-reaching scientific contributions to human genetics, and was established in 1961 in memory of William Allan, MD (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. “In recognizing the most outstanding science in human genetics and genomics, it is a great honor to present Dr. Mary Claire King with the 2020 William Allan Award,” 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 has made seminal contributions to her field, provided groundbreaking insight into the existence of the gene she named BRCA1, and changed our understanding of cancer prevention and treatment.” 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/).

October 22nd

Mayo Scientists Lead International Effort to Develop Assay for Aggregated Protein in Blood & CSF of Patients with Rare Neurodegenerative Disorder Machado-Joseph Disease; Assay May Be Used in Diagnosis, Prognosis, & Monitoring of Experimental Treatments

Mayo Clinic researchers in Jacksonville, Florida, along with national and global collaborators, have developed a potential test for Machado-Joseph disease (https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease), or spinocerebellar ataxia type 3 (SCA3), an autosomal dominantly inherited genetic disease that has no cure. The researchers have also clarified the role of a gene target associated with the disease. The disease is linked to an inherited mutation in the ataxia 3 gene (ATXN3 gene) that causes a CAG triplet nucleotide repeat expansion in the gene [Editor’s Note: This results in the mutant ATXN3 protein having an abnormal run of the amino acid glutamine (represented in the one-letter code for amino acids as Q) which is coded for by the CAG nucleotide triplet; this run is called “polyQ.”] . The negative results of this mutation, which affects the central nervous system, generally appear between the ages of 40 and 70, and are characterized by an unsteady gait, loss of muscle control, and decline of motor and sensory nerves. Symptoms may resemble those of Parkinson's disease or multiple sclerosis. The research was published online on October 21, 2020 in Science Translational Medicine. The article is titled “Toward Allele-Specific Targeting Therapy and Pharmacodynamic Marker for Spinocerebellar Ataxia Type 3.” In the retrospective study, the researchers set out to find a molecular target to help assess potential treatments for SCA3 and the group of neurodegenerative diseases in which it's categorized. Guiding the researchers in this effort was previous work at Mayo Clinic on Lou Gehrig's disease--also known as amyotrophic lateral sclerosis (ALS)--as well as on frontotemporal dementia with mutations in the C9orf72 gene. SCA3 is defined by the characteristic accumulation of a mutant protein: polyQ ataxin-3.

ASHG 2020 Virtual Annual Meeting to Showcase Innovative Research in Human Genetics (October 27-30)

The American Society of Human Genetics (ASHG) 2020 Virtual Annual Meeting taking place October 27-30 will showcase global advances in human genetics and genomics research that are transforming the scientific landscape and leading to new advances in the treatment of devastating diseases. The ASHG 2020 Virtual Meeting (https://www.ashg.org/meetings/2020meeting/) will feature more than 200 oral presentations, nearly 2,000 scientific poster presentations, 80+ exhibit booths, networking and professional development opportunities, and more, making it the digital epicenter of human genetics. As always, it will be among the world’s largest events for genetic and genomic discovery, with thousands of scientists, clinicians, advocates, and others participating from more than 50 countries. “As a global showcase of the latest developments in human genetics, the ASHG 2020 Virtual Meeting will provide an online venue for researchers who conduct human genetics and genomics research around the world to exchange scientific knowledge,” said Anthony Wynshaw-Boris, MD, PhD, ASHG President. “I am excited about the fantastic talks, posters, and special sessions, that will be presented at the Virtual Meeting.” The meeting will host chat sessions throughout the program to continue scientific conversations and exchanges around the latest scientific updates and breakthroughs. The Society will also recognize the outstanding scientific achievements of its members in the human genetics and genomics community with special awards and lectures throughout the meeting. Not only will the ASHG 2020 Virtual Meeting host exceptional plenaries, but also concurrent programming sessions covering critical areas of the field.