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Dr. Sims, working at the Massachusetts General Hospital, has achieved a national and international reputation in clinical Neurogenetics with particular expertise in the lysosomal storage disorders including Fabry disease and the neuronal ceroid lipofuscinoses (NCL) as well as the developmental neurodegenerative X-linked Norrie disease. Her clinical and research expansion into the new area of human diseases of mitochondrial energy metabolism promises to continue her already exemplary trajectory in clinical translational research and patient care. Significant publications, across a broad sweep of neurogenetics, have continued over the last decades of work. Over the last 15 years, Dr. Sims, working as clinician scientist, has directed the Neurogenetic Patient Registries and BioRepositories for NCL, Mitochondrial 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.
> Sims K et al.Neurologic manifestations of Fabry disease: observational data from the International Fabry Registry.Stroke 2009> Xin W ...Sims KCLN5 mutations are frequent in both juvenile and late-onset, non-Finnish NCL patients.Neurology 2010;74:565-571> Smith SE...Sims KBNorrie disease: Extraocular clinical manifestations in a large cohort. Amer J Med Genet 2012; 158A:1909-1917> Brown J...Sims KBSOD1, ANG, TARDBP and FUS mutations in Amyotrophic Lateral Sclerosis (ALS): a United States clinical testing lab experience.J Med Genet 2012;13:217-222> Staropoli J...Sims KB,Cotman, S.KCTD7 links a novel form of neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system AJMG 2012; 91:202-208> Staropoli J...Sims KB An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. BMC Med Genet 2012
Kathryn Swoboda, MD, director of the Neurogenetics Unit within the MGH Center for Human Genetic Research, is the first incumbent of the Katherine B. Sims, MD, Endowed Chair in Neurogenetics.
From Aug. 9 to 11, the MGH hosted the Norrie Disease Association's second international conference at the Richard B. Simches
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