Huntington's Disease researcher to speak
Sandra McNeil, a research associate at the University of Massachusetts Medical School, will deliver a lecture titled Reduced Penetrance and Intergenerational Instability of the Huntington’s Disease Mutations at 4 p.m., Oct. 9, in Room 113 of Carnegie Science Hall, 44 Campus Ave. The public is invited and admission is free.
Huntington’s Disease (HD) is an inherited, neurodegenerative disorder that causes emotional, cognitive and motor disturbances. Symptoms include chorea (dance-like involuntary movements), clumsiness, slurred speech, depression, irritability and apathy. Cognitive losses include intellectual speed, attention and short-term memory. Though the symptoms can begin at any time in life, most cases involve people in their 40s and 50s whose condition will gradually deteriorate over 10 – 20 years until death. In juvenile onset cases, the disease progresses more rapidly and severely. HD affects one in 10,000 individuals in the U.S., and the majority of early onset cases result from paternal transmission of the HD gene defect.
In 1994, McNeil received a fellowship award from the Huntington’s Disease Society of America for developing a genetic model of the disease in mice. She has been a research fellow in Harvard Medical School’s molecular neurogenetics unit at Massachusetts General Hospital, where she studied how the HD gene is expressed in HD and normal brains. McNeil received a bachelor’s degree from Southeastern Massachusetts University and a doctoral degree from the University of Massachusetts Medical School.