James F. Gusella, PhD

James F. Gusella, PhD Bullard Professor of Neurogenetics, Harvard Medical School Director, Center for Human Genetic Research, Massachusetts General Hospital  Dr. James F. Gusella was born and raised in Ottawa, Canada and graduated summa cum laude in 1974 from the University of Ottawa with a B.Sc. in Honors Biology. He continued his education at the University of Toronto, where he earned a M.Sc. degree in Medical Biophysics in 1976 and at the Massachusetts Institute of Technology, where he received his Ph.D. in Biology in 1980.

Foregoing the usual period of postdoctoral training, he moved directly to establishing his own independent laboratory at the Massachusetts General Hospital, in affiliation with Harvard Medical School. He pioneered the use of DNA sequence polymorphisms as genetic markers, demonstrating the feasibility of this new approach by mapping the Huntington’s disease gene to chromosome 4. This discovery set off a torrent of similar studies aimed at identifying genes by their chromosomal position and provided a major impetus for the development of the Human Genome Project. In 1993, Gusella and his colleagues isolated both the gene causing Huntington’s disease, encoding a trinucleotide repeat expansion and that causing NF2, defining the merlin tumor suppressor protein that it encodes.

For the past decade, he has investigated the molecular mechanisms underlying these and many other disorders as Director of the Molecular Neurogenetics Unit (MNU), a multidisciplinary research unit at the MGH dedicated to investigating, understanding and treating inherited nervous system disorders. In 2003, he became Director of the newly formed MGH Center for Human Genetic Research (CHGR) a multidisciplinary, cross-departmental research center whose central mission is to promulgate the “genetic research cycle” in all areas of medicine. This paradigm is based on the tenet that genetic disease research begins and ends with patients and their families. The cycle begins with the use of phenotypic variation in human populations in combination with genetic analysis to identify genes of importance in human disease. It then moves on to characterization of the mechanisms by which the underlying DNA differences lead to phenotypic differences in disease. The cycle is complete when the knowledge gained is used to deliver benefit back to the patient population in the forms of improved diagnosis, disease management and treatments.

The CHGR emphasizes intra- and inter-institutional collaboration to form interactive teams that include both clinical and basic researchers who target their efforts in particular disease areas, including neurology, psychiatry, development and metabolism. Members of the CHGR include, among others, David Altshuler, Mark Daly, Raymond Kelleher, David Pauls, Susan Santangelo and Rudolph Tanzi.  

Dr. Gusella is also Bullard Professor of Neurogenetics in the Department of Genetics at Harvard Medical School and Director of the Harvard Medical School Center for Neurofibromatosis and Allied Disorders. He has authored over 450 scientific publications and serves on the editorial boards of ten biomedical journals, as well as on the advisory boards of several genetic disease-related foundations, including the National Alliance for Autism Research.

He currently serves on the Board of Directors of both the Huntington’s Disease Society of America and the Children’s Tumor Foundation. Aspects of Dr. Gusella’s work have been recognized by several awards and honors, including, among others, the Charles A. Dana Award for Pioneering Achievement in Health, the National Health Council Award for Medical Research, the Metropolitan Life Foundation Award for Medical Research Lois Pope LIFE International Research Award, the Neuronal Plasticity Award of the IPSEN Foundation, the Robert S. Dow Award for Neuroscience, the King Faisal International Prize in Medicine, and the J. Allyn Taylor International Prize in Medicine.