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For rare disease patients and their families, genome and exome sequencing may identify mutations that may be drivers of a condition, but nothing more. As families search for a name to put to a disease and look for treatments, finding others with the same condition and researchers working to understand and treat it becomes a critical part of the search for answers. Now researchers at the University of Washington have created MyGene2, a web portal for people with rare genetic mutations to connect with others with the same condition and researchers interested in their particular mutation. We spoke to Michael Bamshad, professor and chief of the Division of Genetic Medicine in the Department of Pediatrics at the University of Washington & Seattle Children’s Hospital, and Jessica Chong, one of the leads on the MyGene2 project at the Center for Mendelian Genomics at the University of Washington, about the portal, how it works, and what they are hoping to accomplish. This is an encore of an interview that first aired April 2016.
For rare disease patients and their families, genome and exome sequencing may identify mutations that may be drivers of a condition, but nothing more. As families search for a name to put to a disease and look for treatments, finding others with the same condition and researchers working to understand and treat it becomes a critical part of the search for answers. Now researchers at the University of Washington have created MyGene2, a web portal for people with rare genetic mutations to connect with others with the same condition and researchers interested in their particular mutation. We spoke to Michael Bamshad, professor and chief of the Division of Genetic Medicine in the Department of Pediatrics at the University of Washington & Seattle Children’s Hospital and Jessica Chong one of the leads on the MyGene2 project at the Center for Mendelian Genomics at the University of Washington, about the portal, how it works, and what they are hoping to accomplish.
CARTA - Center for Academic Research and Training in Anthropogeny (Video)
Dr. Michael Bamshad, Division Chief and Professor, Division of Genetic Medicine, Pediatrics at the University of Washington, explores how evolutionary processes and demographic history have shaped patterns of genetic variation among humans, and how such variation influences differences in physical features and disease susceptibility among humans. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 18707]
CARTA - Center for Academic Research and Training in Anthropogeny (Audio)
Dr. Michael Bamshad, Division Chief and Professor, Division of Genetic Medicine, Pediatrics at the University of Washington, explores how evolutionary processes and demographic history have shaped patterns of genetic variation among humans, and how such variation influences differences in physical features and disease susceptibility among humans. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 18707]