James Francis Gusella

James Francis Gusella

Bullard Professor of Neurogenetics in the Department of Genetics
James Francis Gusella

My laboratory is focused on understanding nervous system disease using molecular genetic strategies, beginning with human patients and proceeding through in vitro and modeling studies, with the ultimate goal of improving diagnosis, management and treatment. In any given disorder, the research can usually be divided into four sequential stages:

1. Determination of the chromosomal location of a gene defect, susceptibility gene or genetic modifier, usually based on linkage or association studies with polymorphic genetic markers or delineation of structural rearrangements.

2. Identification of the gene responsible for the phenotypic effect based upon its chromosomal location by integrating a variety of genomic strategies.

3. Characterization of the mechanism of action based upon analysis of the allelic versions of the culprit gene in man, and in appropriate in vitro or in vivo model systems, including cultured human cells, genetically engineered mice, and lower organisms such as Drosophila and Dictyostelium.

4. Exploration of the potential for rational therapies, including genetic therapies.

We are currently searching for modifier genes for Huntington's disease and neurofibromatosis and, in part with the Developmental Genome Anatomy Project, we are identifying genes at breakpoints of balanced translocations associated with developmental abnormality. Finally, we are examining the mechanism of pathogenesis of genetic defects in autism, Huntington's disease, Parkinson's disease, and neurofibromatosis, using both iPS cells and model organisms, as we pursue assays to identify genetic and chemical modifiers, with the ultimate goal of contributing to effective rational therapies.

Contact Information

Massachusetts General Hospital
Simches Research Building CPZN 5.252
185 Cambridge St
Boston, MA 02114
p: 617-726-5724

Community or Program Affiliation