Katherine Bustin Sims, MD
Director, Neurogenetics Clinic
- Department of Neurology
- MassGeneral Hospital for Children
- Metabolic Disorders Unit
- Clinical Interests
- Developmental neurogenetic disorders
- Mental retardation
- Energy metabolism disorders (mitochondrial)
- Lysosomal storage disorders (Fabry, Gaucher, Pompe, MPS)
- Neural ceroid lipofuscinosis (NCL; Batten disease)
- Norrie disease
- Boston: Massachusetts General Hospital
- Medical Education
- MD, Columbia University College of Physicians & Surgeons
- Residency, Massachusetts General Hospital
- Fellowship, Massachusetts General Hospital
- Board Certifications
- Neurology with Special Qualifications in Child Neurology, American Board of Psychiatry and Neurology
- Patient Age Group
- Adult and pediatric
- Accepting New Patients
- Insurances Accepted
- Aetna Health Inc.
Blue Cross Blue Shield - Blue Care 65
Blue Cross Blue Shield - Indemnity
Blue Cross Blue Shield - Managed Care
Blue Cross Blue Shield - Partners Plus
Cigna (PAL #'s)
Fallon Community HealthCare
Great-West Healthcare (formally One Health Plan)
Harvard Pilgrim Health Plan - ACD
Harvard Pilgrim Health Plan - PBO
Health Care Value Management (HCVM)
Humana/Choice Care PPO
Neighborhood Health Plan - ACD
Neighborhood Health Plan - PBO
OSW - Connecticut
OSW - Maine
OSW - New Hampshire
OSW - Rhode Island
OSW - Vermont
Private Health Care Systems (PHCS)
Railroad Medicare - ACD
Tufts Health Plan
United Healthcare (non-HMO) - ACD
United Healthcare (non-HMO) - PBO
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.
- Lysosomal storage disorders
Founded and maintains research Clinical Registry and Tissue Bank for the Neuronal Ceroid Lipofuscinoses (NCL) disorders. Clinical genotype-phenotype studies. Research in Fabry disease includes neurocognitive assessment, CNS neuroimaging studies and clinical trials for ERT. High-throughput Fabry enzyme and DNA testing for population screening studies.
- Primary mitochondrial disorders
Diagnostic testing, clinical characterization, development of semi-quantitative measures for management assessment. Founded and maintains research Clinical Registry and BioRepository. Collaborative clinical studies in metabolic profiling.
- Molecular neurogenetics of Norrie disease (ND)
Norrie disease molecular genetic elaboration of underlying genotype-phenotype relationship. Founded and maintains a research ND Clinical Registry and BioRepository. Organizer and host for 1st International Norrie Disease Association Scientific and Patient Support Meeting, Boston, 2009.
> 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
From Aug. 9 to 11, the MGH hosted the Norrie Disease Association’s second international conference at the Richard B. Simches
55 Fruit Street
Boston, MA 02114
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