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. We are currently defining and characterizing modifier genes for Huntington’s disease and neurofibromatosis and, as part of the Developmental Genome Anatomy Project, we are characterizing 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

Highlighted Publications from the lab


Developmental alterations in Huntington’s disease neural cells and pharmacological rescue in cells and mice
May, 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
January, 2017

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
July, 2015

A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas
July, 2015