Dr. Katherine Sims is a Pediatric Neurologist at the Massachusetts General Hospital. Her clinical work over the last 30 years has focused on the broad scope of neurogenetic disorders including those of the lysosome, particularly neuronal ceroid lipofuscinosis [Batten disease, NCL disorders], Fabry disease, Norrie disease, general neurometabolic disorders and, most recently, the primary mitochondrial energy metabolism disorders Over the last 15 years, Dr. Sims, working as clinician scientist, has directed the design and development of Patient Registries and BioRepositories for Mitochondrial, NCL and Norrie diseases. She is an expert diagnostician and works with great facility in identifying clinical cases and facilitating entry into appropriate clinical translational studies.
Past Expert Series Presentations
