James Gusella, PhD
My laboratory is focused on understanding nervous system disease using molecular genetic strategies, with a strong emphasis on genetic analysis of human disease cohorts, complemented by in vitro and modeling studies. We are particularly interested in identifying genes that modify the phenotypic presentation and pathogenesis of human neurodegenerative and neurodevelopmental diseases. For example, we have identified genetic loci that influence the age-at-onset of Huntington’s disease, several of which differentially modify its motor and cognitive components. We are also interested in how normal variation in genes implicated in Mendelian disease influences common human phenotypes. Our ultimate goal is to unlock the information in the genomes of humans with disease to improve diagnosis and prevention while pointing to rational, in-human validated targets for developing disease-modifying treatments.
Highlighted Publications from the lab
Huntington’s disease: nearly four decades of human molecular genetics.
Developmental alterations in Huntington’s disease neural cells and pharmacological rescue in cells and mice
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas