Faces of HD

Drs. Marcy MacDonald and Jim Gusella have been leaders, mentors and collaborators in the quest to find therapies for Huntington’s disease for 30 years.

Dr. Marcy MacDonald obtained her PhD in Medical Biophysics from the University of Toronto in 1980 and is currently a Professor of Neurology at the Harvard Medical School and a geneticist at Massachusetts General Hospital.

At the Center for Human Genetic Research, Dr. MacDonald’s lab focuses on understanding the genetic basis of inherited human brain disease, especially neurodegenerative disorders such as Huntington’s disease. Her research seeks to discover the functions of identified disease genes in order to detect the earliest effects of disease causing mutations using experimental systems that replicate the genetic defects identified in human patients.

Dr. MacDonald became involved in Huntington’s disease research in 1985, joining Dr. James Gusella in an international collaboration that identified the Huntington’s disease gene in 1993, improving the diagnosis and management of the disorder. Her research pioneers the use of genetic mouse models and genetic studies in human samples to contribute knowledge essential to the development of effective therapies for Huntington’s disease.

Dr. MacDonald has served on several HDSA advisory boards and, for more than two decades, has spoken about Huntington’s disease research at HDSA events for local chapters and at the Annual Convention.

Dr. Jim Gusella is a Bullard Professor of Neurogenetics at Harvard Medical School and the Director of the Center for Human Genetic Research at Massachusetts General Hospital. Dr. Gusella was born and raised in Ottawa, Canada and received his B.Sc. in Honors Biology from the University of Toronto in 1974. He received his PhD in biology from MIT in 1980. Rather than spending several years in postdoctoral training, Dr. Gusella established his own independent lab at Massachusetts General Hospital where he pioneered the use of DNA sequence polymorphisms as genetic markers, initially showing the feasibility of this new approach in Huntington’s disease. In 1983, he is credited with locating the “marker” for HD. This discovery led to an explosion of similar studies aimed at identifying genes by their chromosomal position and provided a major incentive for the development of the Human Genome Project.

It also led to the discovery of the HD gene and its trinucleotide repeat mutation in 1993. The discovery is credited to a worldwide research collaborative that worked in both Venezuela and North America to isolate the exact location of the gene on the short arm of chromosome 4.

For three decades, Dr. Gusella has used genetic strategies to identify genetic factors in a variety of nervous system disorders. In 2003, he was named Director of the newly formed MGH Center for Human Genetic Research.

Dr. Gusella has authored over 450 scientific publications and has also participated on scientific advisory boards of several genetic disease-related foundations among them the Huntington’s Disease Society of America.