Genome-wide Identification of Pathogenic Mutations in Patients with Neurological and Developmental Disease
Event Details
- Type
- Special Seminar Series
- Speaker(s)
-
David Goldstein, Ph.D., The Richard and Pat Johnson Distinguished University Professor, department of molecular genetics and microbiology, and director, Center for Human Genome Variation, Duke University
- Speaker bio(s)
-
One primary challenge in the interpretation of large-scale sequencing studies is the huge number of candidate variants that emerge. This occurs primarily because there are many functional variants in every sequenced genome and because the ability to prioritize variants based on bioinformatic criteria remains limited. Integrating functional characterization of identified mutations with careful genome interpretation can often provide compelling evidence implicating new disease-causing mutations and genes in phenotypically well-characterized patients. Dr. Goldstein will report on progress primarily from the Epi4K consortium focusing in particular on the analysis of the complete exome sequences of about 300 trios of patients with epileptic encephalopathies leading to the secure identification of new disease causing pathways.
Dr. Goldstein earned his Ph.D. from Stanford University in 1994, after which he was an NIH postdoctoral fellow at Pennsylvania State University. From 1996 to 1999 Dr. Goldstein was a university lecturer at the University of Oxford, and from 1999 to 2005 he was the Wolfson Professor of Genetics at University College London. Dr. Goldstein was also an honorary senior fellow in 2002 and an honorary professor in 2007 at the Institute of Neurology at University College London. He joined Duke University in 2005. Dr. Goldstein serves on the editorial boards of Current Biology and Trends in Genetics and is a recipient of the Wolfson/Royal Society Research 2001 Merit Award and the Triangle Business Journal 2008 Health Care Heroes Award.
- Open to
- Public
- Host
- Jean-Laurent Casanova
- Reception
- Refreshments, 3:45 p.m. - 4:00 p.m., Abby Lounge
- Contact
- Jill Benz
- Phone
- (212) 327-7244
- Sponsor
-
Jill Benz
(212) 327-7244
benzj@rockefeller.edu