Dr. Sims is Director of the Developmental Neurogenetics [DNG] Clinic and of the Mitochondrial Disorders Clinic, at MGH. These clinics serve 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 of diagnostic dilemmas and genetic counseling, specialized care is delivered to patients and families with the lysosomal storage disorders, including Fabry, Gaucher, Pompe, Hunter-Hurler and Neuronal Ceroid Lipofucsinoses [NCL] diseases, Norrie disease, leukodystrophies, neurometabolic and mitochondrial disorders. This latter group of disorders is increasingly an area of care and expertise and an independent clinic has just been started to service patient needs. From the wide variety of clinical syndromes initially evaluated, the DNG Clinic serves to triage patients particularly to other specialized MGH clinics including: Tuberous Sclerosis [TSC], Von Hippel Lindau [VHL], Movement Disorder, Dystonia and other Neurology clinics. The clinic is staffed by Dr. Sims, Dr. Marsha Browning, a nurse geneticist and nurse coordinator.

Research Interests

1. Primary mitochondrial disorders – diagnostic testing, clinical characterization, development of quantitative measures which will allow for assessment of therapeutic interventions  Mitochondrial Disorders Registry and Tissue Repository are maintained.
2. Lysosomal storage disorders – diagnosis, medical assessment, management and treatment, genetic counseling.
3. Neuroenetic disorders and issues of diagnosis, management and genetic information transfer.
4. Norrie disease – molecular characterization, identification of NDP interactors.  Norrie Disease Registry is maintained.  Dr. Sims is medical consultant to Norries Community research & Support Foundation [NCRSF]