Susan Slaugenhaupt PhD

Sue Slaugenhaupt received her Ph.D. in Human Genetics from the University of Pittsburgh in Pittsburgh, PA, USA. She is a Professor of Neurology in the Center for Human Genetic Research at Massachusetts General Hospital and Harvard Medical School. Her research interests include the discovery and characterization of human disease genes and the role of mRNA splicing in human disease.

Dr. Slaugenhaupt's current work focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP). Discoveries in Sue's laboratory have led to the successful implementation of critical population screening for FD and MLIV, in addition to a clinical trial of the first therapeutic for FD that directly targets the molecular defect. Sue and her team have further developed a potential treatment for a genetic disease that directly targets the mRNA splicing mechanism.

Given the frequency of splicing mutations, a genome-wide assessment of known mutations will ultimately allow for the development of a panel of drugs that can shift the ratio of mRNA isoforms as a means of treating human genetic disease.