Physician Photo

Katherine Bustin Sims, MD

Director, Neurogenetics Clinic

  • Phone: 617-726-5732
Department of Neurology


  • MassGeneral Hospital for Children
  • Neurology
  • 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 and 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 Gateway
Yes, learn more
Patient Age Group
Adult and pediatric
Accepting New Patients
Accepting New Patients


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.


  1. 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.
  2. 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.
  3. 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

MGH hosts Norrie disease conference

From Aug. 9 to 11, the MGH hosted the Norrie Disease Association’s second international conference at the Richard B. Simches Research Center.

Swoboda honored with Sims endowed chair

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.

Neurogenetics Clinic
55 Fruit Street
Boston, MA 02114

Phone: 617-726-5732
Fax: 617-724-9620