Genetic basis of inherited brain disorders, particularly Huntington’s disease

Our research, evolving from the discovery of the genetic causes of inherited brain disorders (hereditary spastic paraparesis, neurofibromatosis, neuronal ceroid lipofuscinosis, Huntington’s disease), is now largely focused on the DNA variants that modify the effects of the unstable expanded CAG repeat that causes Huntington’s disease. We do molecular genetic studies with disease and population cohorts and genetically precise model systems. Our goal is to enable timely intervention, diagnosis and disease-management.

1. Whole genome and candidate gene studies to Identify DNA variants that modify the timing of onset and the trajectory of clinical measures.
2. Studies to identify DNA variants at the Huntington’s disease locus (HTT) that modulate disease timing.
3. Studies to estimate the frequency of disease-associated triplet repeat expansions in disease and healthy populations.
4. Accurate measurement of DNA variation: prediction and genotyping of simple and complex DNA repeat variants that may modify disease via structural or regulatory effects.