Research Investigator Profile

James Gusella, PhD, 2001

James F. Gusella, PhD

  • Bullard Professor of Neurogenetics,
    Harvard Medical School
  • Director, Center for Neurofibromatosis
    and Allied Disorders, Harvard Medical School
  • Director, Center for Human Genetic Research,
    Massachusetts General Hospital


Research Description

Dr. Gusella’s laboratory is currently pursuing collaborative studies at all stages of the genetic research cycle aimed at discovering genes that cause, predispose to or modify neurological and behavioral disorders or caused abnormal development in subjects with balanced chromosomal aberrations and developmental phenotypes, delineating mechanisms of pathogenesis in Huntington’s disease, Parkinson's disease, neurofibromatosis, and autism and exploring the potential mechanism-based treatments.

Research interests The application of human genetics as a tool to discover disease mechanism in human patients and to improve diagnosis, management and treatment
Research techniques genetics/genomics
Diseases studied Huntington's disease, Parkinson's disease, autism, neurofibromatosis 1, neurofibromatosis 2, brain tumors, biotin-responsive basal ganglia disorder, chromosomally caused developmental abnormalities
Selected publications
  1. Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF.  Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet. 2008 Jan;82(1):199-207.
  2. James MF, Lelke JM, Maccollin M, Plotkin SR, Stemmer-Rachamimov AO, Ramesh V, Gusella JF.  Modeling NF2 with human arachnoidal and meningioma cell culture systems: NF2 silencing reflects the benign character of tumor growth. Neurobiol Dis. 2008 Feb;29(2):278-92.
  3. Gusella JF, Macdonald ME.  Huntington's disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci. 2006 Sep;31(9):533-40.
  4. Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF.  Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006 Jun;63(6):826-32.
  5. Wang J, Gines S, MacDonald ME, Gusella JF.  Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation. BMC Neurosci. 2005 Jan 13;6(1):1.
NCBI PubMed link NCBI PubMed Publications
E-mail address
Lab mailing address CHGR
185 Cambridge Street
CPZN 5.830
Boston, MA 02114-2696
Lab website

Molecular Neurogenetics Unit,
Center for Human Genetic Research

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