Huntington’s Disease

Expansion of CAG repeats in the Huntingtin gene (HTT) produces a mutant version of the huntingtin protein whose presence becomes toxic to brain cells, leading to cell death and underlying the progressive pathology of Huntington’s Disease.

We have five PSC lines derived from Huntington’s Disease patients and one from an asymptomatic carrier. We also have a neural stem cell derived from one of the Huntington’s Disease patient lines. They are excellent models for investigating the disease and developing assays to screen potential therapies.