Bullard Professor of Neurogenetics, Department of Genetics, Harvard Medical School
Director, Center for Human Genetic Research, Massachusetts General Hospital
Associate Member, Broad Institute of MIT and Harvard
Principal Faculty, Harvard Stem Cell Institute
In 1980, Dr. James Gusella completed his PhD at M.I.T. where he showed that human DNA could be cloned based on its chromosomal location using recombinant libraries of somatic cell hybrids and hybridization with human-specific interspersed repeat DNA.
Shortly before, Y.W. Kan had published his seminal paper describing a restriction fragment length polymorphism at the β-globin locus and concluded that “Polymorphism in a restriction enzyme site could be considered as a new class of genetic marker and may offer a new approach to linkage analysis and anthropological studies”. Dr. Gusella recognized the potential to utilize such markers for linkage genome-wide as he moved immediately after graduate school to establish his independent laboratory at the Massachusetts General Hospital. He demonstrated the feasibility of this new approach by mapping the Huntington’s disease gene to chromosome 4. This discovery inspired a torrent of similar studies to identify genes by their chromosomal position, and provided an impetus for the development of the Human Genome Project. In 1993, Dr. Gusella, with colleague Marcy MacDonald and an international consortium, isolated the Huntington’s disease gene and its trinucleotide repeat mutation.
In 2003, James Gusella was named Director of the newly formed MGH Center for Human Genetic Research, a cross-departmental, interdisciplinary thematic center tasked with promoting the Genetic Research Cycle, from discovery of genetic variation in disease through to ultimately benefiting patients through improved diagnosis, prevention, management and rational therapy. His laboratory continues to pursue studies of disease mechanism and modification in Huntington’s disease, neurofibromatosis and autism/neurodevelopmental disorders.
Dr. Gusella has been recognized by several awards and honors, including 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; the 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.