Webinar: Toward Precision Medicine in Neurological Disease

Presenter: David B. Goldstein, PhD, Director of the Center for Human Genome Variation at Duke University

Date: November 13, 2014

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 our 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.

Here Dr. Goldstein will report progress in identifying pathogenic mutations large-scale scale studies in epilepsy, in particular focusing on identifying de novo mutations as a cause of the epileptic encephalopathies. Next he will discuss how sequencing is being used to diagnose rare serious unresolved genetic conditions. Finally, Dr. Goldstein will describe a number of examples in which a secure genetic diagnosis has led directly to a change in clinical management.

Dr. David Goldstein is Professor of Molecular Genetics & Microbiology, Professor of Biology and Director of the Center for Human Genome Variation at Duke University. He received his Ph.D. in Biological Sciences from Stanford University in 1994, and from 1999-2005 was Wolfson Professor of Genetics at University College London. In April 2007, he was appointed Honorary Professor, Institute of Neurology, University College London, UK.

Dr. Goldstein is the author of over 200 scholarly publications in the areas of population and medical genetics. His principal interests include human genetic diversity, the genetics of disease, and pharmacogenetics. He was elected a fellow of AAAS in 2013 and was a recipient of one of the first seven nationally awarded Royal Society / Wolfson research merit awards in the UK for his work in human population genetics. Also in 2013, Dr. Goldstein chaired the Gordon Research Conference in Human Genetics, and he is currently serving on the Advisory Council at the National Institute of Neurological Disorders and Stroke at NIH. Dr. Goldstein currently serves on Knome’s Clinical and Scientific Advisory Board.