Dr. Gusella is Director of the CHGR and its Molecular Neurogenetics Unit, as well as Director of the HMS Center for Neurofibromatosis and Allied Disorders, Associate Director of the Harvard Medical School-Partners Healthcare Center for Genetics and Genomics and an Associate Member of the Broad Institute of MIT and Harvard. Dr. Gusella graduated with a B.Sc. in Honours Biology (summa) from the University of Ottawa in 1974 and earned an M.Sc. (Medical Biophysics) from the University of Toronto in 1976. He obtained his Ph.D. (Biology) at the Massachusetts Institute of Technology in 1980 and joined the HMS faculty at the MGH that same year. Dr. Gusella pioneered the use of DNA markers for mapping unknown human disease genes by linkage analysis. His demonstration of the power of this approach by assignment of the Huntington Disease gene to chromosome 4 galvanized both the neuroscience and human genetics communities and gained widespread attention in the public press. It also set off a torrent of similar studies in other disorders, providing an early impetus to the idea of the Human Genome Project. Dr. Gusella continued to develop the next steps in the positional cloning strategy of isolating genes by their chromosomal location as part of an international collaboration to identify the Huntington Disease gene, which was found with Marcy MacDonald’s lab in 1993.
Over the years, his laboratory has also participated in the initial mapping or the actual gene cloning in many other disorders, including achondroplasia, Alzheimer disease, amyotrophic lateral sclerosis, Batten disease, biotin-responsive basal ganglia disease, familial cerebral cavernous malformation, early-onset dystonia, familial dysautonomia, hyperkalemic periodic paralysis, mucolipidosis IV, neurofibromatosis 1, neurofibromatosis 2, paramyotonia congenita, von Hippel-Lindau disease and Wilson disease. His work has been recognized with numerous honors, including among others the Metropolitan Life Foundation Award for Medical Research, the National Health Council Award for Medical Research (to the Huntington's Disease Collaborative Group), the J. Allyn Taylor International Prize in Medicine, the King Faisal International Prize in Medicine, the Dana Award for Pioneering Achievement in Health, the Lois Pope LIFE International Research Award, the Neuronal Plasticity Award of the IPSEN Foundation, and the Robert S. Dow Award for Neuroscience. Dr. Gusella’s laboratory is currently pursuing collaborative studies at all stages of the genetic research cycle aimed at defining heritable functional magnetic resonance imaging correlates of behavioral phenotypes, discovering genes important for development in subjects with balanced chromosomal aberrations and developmental phenotypes, identifying susceptibility and modifier genes for behavioral and neurodegenerative disorders, delineating mechanisms of pathogenesis in Huntington’s disease, neurofibromatosis, dystonia and familial dysautonomia, and exploring potential mechanism-based treatments. |
