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Archive - Nov 4, 2014


ASHG Honors Gonçalo R. Abecasis and Mark J. Daly with Curt Stern Early-Career Geneticists Award at ASHG 2014 Annual Meeting

The American Society of Human Genetics (ASHG) 2014 has named Gonçalo R. Abecasis, D.Phil., Felix Moore Collegiate Professor of Biostatistics at the University of Michigan School of Public Health (U-M SPH); and Mark J. Daly, Ph.D, Associate Professor of Medicine and Chief of the Analytic and Translational Genetics Unit at Massachusetts General Hospital (MGH)/Harvard Medical School and Senior Associate Member of the Broad Institute, as the 2014 recipients of the Curt Stern Award. This annual award, named for the late pioneering geneticist Curt Stern, Ph.D., recognizes genetics and genomics researchers who have made significant scientific contributions during the past decade. ASHG will present the award, which will include a crystal plaque and $5,000 cash prize to each awardee, on Monday, October 20, during the organization’s 64th Annual Meeting in San Diego. Dr. Abecasis has developed statistical and mathematical methods for the analysis of genetic data that have evolved into standard tools in human genetics. In an era of exponential growth in genetic data, his software helps geneticists analyze studies of families and unrelated individuals, characterize variation among genomes, study connections between genetic variation and human disease, and integrate information across gene-mapping studies. He has also led scientific consortia studying a variety of human traits, such as age-related macular degeneration, heart disease, and metabolic disease. Dr. Abecasis is currently deploying next-generation sequencing technology to study the genomes of thousands of people, with the aim of better understanding genetic variation and human disease biology. In 2008, Dr. Abecasis received the U-M SPH Excellence in Research Award and in 2013, he received the Overton Prize from the International Society for Computational Biology.

Physician-Geneticist Stuart H. Orkin Receives Pristigious Allan Award Award at ASHG 2014 Annual Meeting

The American Society of Human Genetics (ASHG) has named Stuart H. Orkin, M.D., David G. Nathan Professor of Pediatrics at Harvard Medical School, Chairman of the Department of Pediatric Oncology at Dana-Farber Cancer Institute, Associate Chief of Hematology/Oncology at Boston Children’s Hospital and Investigator of the Howard Hughes Medical Institute at Boston Children’s Hospital, as the 2014 recipient of the annual William Allan Award. The Allan Award, which recognizes a scientist for substantial and far-reaching scientific contributions to human genetics, was established in 1961 in memory of William Allan, M.D. (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Dr. Orkin received his award, which included an engraved medal and $10,000 monetary prize, on Monday, October 20, 2014, during the ASHG’s 64th Annual Meeting in San Diego. He will present his William Allan Award address immediately thereafter. Dr. Orkin has pioneered research into the genetics behind blood diseases, including identifying the primary mutations (genetic changes) that cause them, defining factors that regulate how these mutations are expressed in blood cells, and applying their findings to medicine. In the late 1970s and early 1980s, Dr. Orkin and colleagues comprehensively defined mutations that lead to the thalassemias, a collection of inherited conditions in which the body produces too little of the oxygen-carrying molecule hemoglobin, which leads to anemia. In the mid-1980s, Dr. Orkin’s laboratory was the first to successfully clone a gene causing a disease (chronic granulomatous disease) without already knowing the protein coded for by the gene. Their approach to mapping mutations has since been used in similar studies of other genetic disorders. More recently, Dr.

ASHG President Cythia Morton, Ph.D., Welcomes Over 6,000 Attendees to San Diego 2014

The following is ASHG President Cytnia Morton’s, Ph.D., welcome to the over 6,000 attendees at the our 2014 ASHG Annual Meeting in San Diego on Friday, October 17, 2014. Dr.Morton is also Willliam Lambert Richardson Professore of Obstetrics, Gynecology, and Reproductive Biology and Professor of Pathology, Harvard Medical School; and Director of Cytogenetics, Brigham and Women’s Hospital. “San Diego is a terrific city in which we have met on several previous occasions and where we have enjoyed our visits together immensely, Dr. Morton began. The theme I have chosen for this meeting is “The Time of Our Lives.” I have had the good fortune over the past 35 years to have a career as a human and medical geneticist, and I can assure you that in every one of those years I have witnessed important discoveries. Never before, however, has it been so clear that the study of the human genome will impact human health and medicine in such a profound way. With that perspective, it is a moment of great privilege and responsibility, and the path we take now will be a legacy for humankind. It is surely “The Time of Our Lives” as human geneticists. Our annual meeting is a wonderful reunion of geneticists from across the lifespan and from around the globe--from those who are the founders of our discipline to the trainees who will become our future leaders. Here we embrace old friends and make new ones, we celebrate remarkable accomplishments of colleagues, and we witness progress not imagined only a few short years ago. We work hard and we play hard, and we have “The Time of Our Lives”.