Jay Shendure is an Investigator of the Howard Hughes Medical Institute (HHMI), Professor of Genome Sciences at the University of Washington, Director of the Allen Discovery Center for Cell Lineage Tracing, and Scientific Director of the Brotman-Baty Institute for Precision Medicine. His 2005 PhD included one of the first successful demonstrations of massively parallel or next generation DNA sequencing. Dr. Shendure’s research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders (e.g. Miller and Kabuki syndrome) and autism; cell-free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays and saturation genome editing; whole organism lineage tracing; and massively parallel molecular profiling of single cells.
He is the recipient of the 2012 Curt Stern Award from the American Society of Human Genetics, the 2013 FEDERAprijs, a 2013 NIH Director’s Pioneer Award, the 2014 HudsonAlpha Life Sciences Prize and the 2018 Richard and Carol Hertzberg Prize for Technology Innovation. He serves or has served on advisory boards for the NIH Director, the US Precision Medicine Initiative, the National Human Genome Research Institute, the Chan-Zuckerberg Initiative and the Allen Institute for Cell Science.
Dr. Mefford is an Associate Professor of Pediatrics at the University of Washington, attending physician at Seattle Children’s Hospital, and Deputy Science Director of the Brotman Baty Institute for Precision Medicine. Dr. Mefford’s research laboratory focuses on gene discovery in pediatric disease, with an emphasis on pediatric epilepsies. They employ state-of-the-art technologies including targeted, exome and genome sequencing, custom array CGH and stem cell technologies.
The Mefford lab has discovered numerous novel genes and copy number variants associated with epilepsy and related disorders. These discoveries are used in clinical diagnosis, and hopefully will be used for development of more precise epilepsy therapies in the future. Dr. Mefford’s clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with severe epilepsies and neurocognitive defects of unknown etiology.