Marian DiFiglia

Marian DiFiglia, PhD

Dr. DiFiglia has been studying the cell biology of Huntington’s Disease (HD) for more than 20 years and is the world’s expert in neuropathology of human HD. Her studies in the neuroanatomical and neurotransmitter organization of the basal ganglia laid the foundation for the idea of selective vulnerability of some neurons for cell death in Huntington’s disease (HD).

Among her discoveries were the identification of huntingtin as a cytoplasmic protein associated with vesicular transport, the proof that mutant huntingtin is expressed as an altered protein in the brain of HD patients, that the size of the polyglutamine repeat predicts the course of the disease, and that aggregation of mutant huntingtin is a hallmark of its neuropathology.

She currently leads a multidisciplinary research team investigating the role of the HD mutation in the molecular and cellular events leading to neurodegeneration. Her research efforts use engineered neuronal cell lines, transgenic animals and the HD postmortem brain for studying the pathogenesis and potential treatments for HD.