Dr. MacDonald obtained
her Ph.D. in Medical Biophysics (University
of Toronto) in 1980 and is currently a Professor
of Neurology (Genetics), at Harvard Medical
School and the Massachusetts General Hospital.
Dr. MacDonald is a founding member of the
Molecular Neurogenetics Unit and the Center
for Human Genetic Research and is a member
of the Basic Biological Sciences Program,
Harvard Medical School. Dr. MacDonald directs
the Molecular Neurogenetics Unit Genotyping
Resource and the Chromosome Substitution
Strain Resource.
Dr. MacDonald’s laboratory focuses on inherited diseases of the nervous system, utilizing the genetics research paradigm. Dr. MacDonald and her colleagues have used genotype-phenotype studies in man to discover gene mutations that cause Huntington’s disease, Neuronal Ceroid Lipofuscinosis, Benign Hereditary Chorea, and other disorders, and her group has pioneered the use of genetic knock-in mouse models that precisely replicate the human disease mutations, to delineate critical early steps in pathogenesis. Genetic studies in Huntington’s disease and Neuronal Ceroid Lipofuscinosis, in man and mouse, aim to reveal genes that modify the onset of early disease events, providing validated targets for the development of effective interventions.
Dr. MacDonald’s research is funded by the National Institutes of Health (NINDS), Huntington’s Disease Society of America Coalition for the Cure and The Batten Disease Support and Research Association.
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