Lysosomal Disease Program Harvard Medical School
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What is the MGH LSD program?

The Lysosomal Storage Disorders [LSD] Program at the Massachusetts General Hospital in Boston, MA. is affiliated with Partners Health Care and the Harvard Medical School. The LSD program is directed by Katherine Sims, M.D. Patients are treated by Dr. Katherine Sims and Dr. Marsha Browning, MD, MPH.  Clinical and Research Coordination is performed by Virginia Clarke, R.N.,  and administration management is directed by Kellie Burke.

This clinic serves as a local, regional and national/international resource for the diagnostic evaluation of genetic neurodegenerative disorders for both pediatric and adult patients and their families. In addition to evaluation and diagnosis, specialized care is delivered to patients and families with the lysosomal storage disorders, including Fabry, Gaucher, Pompe, MPS, Mucolipidosis IV,  and Neuronal Ceroid Lipofucsinoses [NCL] diseases. Genetic counseling is an area of expertise. Clinical care and participation in clinical research are aimed at better characterizing the phenotypic variability and natural history of these disorders and in the evaluation of therapies including enzyme replacement therapy and small molecules. Dr. Sims is a member of the National Fabry Registry Advisory Board. Other disorders in which the staff has special expertise include: Norrie disease, the leukodystrophies, neurometabolic, fatty acid oxidation defects,  autism, and mitochondrial disorders.

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