M.D., James V. Neel Distinguished University Professor, University of Michigan; Investigator, Howard Hughes Medical Institute; Member of Life Sciences Institute
David Ginsburg received his B.A. degree in molecular biophysics and biochemistry from Yale University in 1974 and his M.D. degree from Duke University School of Medicine in 1978. His postdoctoral clinical and research training was at the Brigham and Women’s Hospital and Children’s Hospital, Harvard Medical School. Dr. Ginsburg joined the faculty at the University of Michigan as a n Assistant Professor in 1985.His clinical expertise is in hematology/oncology and medical genetics, and his laboratory studies the components of the blood-clotting system and how disturbances in their function lead to human bleeding and blood-clotting disorders. Dr. Ginsburg is a member of the National Academy of Sciences (NAS), the National Academy of Medicine (NAM) and the American Academy of Arts and Sciences. He is a past president of the ASCI and has served on the Councils for the AAP, the NAS, and the NAM. He is also a member of the Board of Directors for Shire plc and the SAB for Portola pharmaceuticals.
Genetic Diagnosis: Removing Uncertainty from the VUS
This talk will cover the challenges of interpreting genetic sequencing data for medical diagnosis and treatment. The implications of the frequently identified “Variant of Uncertain Significance” (VUS) will be reviewed, as well as high throughput approaches for characterizing the functional impact of all possible missense mutations in a disease-associated protein.