Departmental Seminar: Dr. David Goldstein

Event Date: 02.02.2015 Day: Monday Time: 12:00 pm Location: 601 Fairchild Event Type: Departmental

Director
Institute for Genomic Medicine
Columbia University

Title: "Toward Precision Medicine in Neurological Disease"

Abstract:

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