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We are Richard Gibbs, Director of the Human Genome Sequencing Center at Baylor College of Medicine, and Stacey Gabriel, Senior Director of the Broad Institute's Genomics Platform. We study genetic variation using DNA sequencing, AUA!
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Hi Reddit! I am Richard Gibbs, a human geneticist, who researches genetic variation using DNA sequencing at the Human Genome Sequencing Center at Baylor College of Medicine. Human genetic diseases are usually dichotomized – contrasting disorders caused by rare, single gene defects that are mainly found in children (such as Mendelian diseases) versus adult, common complex diseases that have can have subtle genetic contributions from multiple changes (such as cardiovascular disease, neurodegenerative diseases, and immunological diseases). My team works to build better ways to sequence and interpret genomes, to translate that technology into the clinic and to better understand the link between rare and common disease. I believe that we are experiencing a social revolution by the propagation of the knowledge and awareness of genetics and genomics in society. I will be back at 1 pm ET (10 am PT, 6 pm UTC) to answer your questions, ask me anything! I am Stacey Gabriel, I have worked at the Broad Institute (formerly the Whitehead Genome Center) for the last 17 years. I joined the Broad after completing my Ph.D. in Human Genetics at Case Western Reserve University where I discovered genes for a congenital disorder, Hirschsprung Disease. This work drove my interest in disease gene discovery via human genetics and with an ultimate desire to drive discovery in more common diseases like cancer, diabetes, heart disease, and others. During my time I have led the Broad’s contribution to several important international efforts to build genomic resources to enable disease gene research. These include the Human Hap Map project, The Cancer Genome Atlas, the 1000 Genomes Project and the NHLBI Exome Sequence Project. I also serve as a Co-Principle Investigator (along with Eric Lander) on a very large grant from the National Genome Research Institute which has established us over the past 25 years or so as a Large-scale Sequencing Center. We operate one of the world’s largest fleets of MPS (massively parallel sequencing) DNA sequencers, generating data for ~ one new human genome every 15 minutes! This data is used by researchers at the Broad and all over the world to make discoveries about human disease, the human genome, and hopefully will fuel initiatives like the President’s Precision Medicine Initiative. I will be here answering your questions for about an hour starting at 2:30 pm ET (11:30 am PT, 7:30 pm UTC). Richard Gibbs here (1,30 pm ET): thanks for some terrific questions! Back to work but I hope to drop in later for a short while. I know Stacey Gabriel is joining in a few minutes. Thanks again. Thanks everyone….was a lot of fun to read and think about all these questions and heartening to see the interest in modern genetics and genomics! Bye RG