Neurogenetics Program

The Neurogenetics Program provides clinical care, conducts research for certain neurogenetic disorders and offers diagnostic testing for an array of neurodegenerative diseases.

Neurogenetics TEAM

Through clinical care, clinical research and diagnostic testing, our program seeks to understand and treat an array of neurogenetic disorders.

Among our experts on neurogenetic disorders is program director Katherine Sims, MD, who chairs the North American Fabry Registry Advisory Board and earned the NIH's 2008 Collaboration, Education and Test Translation (CETT) award in rare disease clinical testing. She also founded our Neurogenetics Clinic and Neurogenetics DNA Diagnostic Laboratory.

Collectively, the members of our staff also specialize in disorders such as:

  • Neuronal ceroid lipofuscinosis
  • Fatty acid oxidation defects
  • Mitochondrial disorders

Clinical Diagnoses and Beyond

The Neurogenetics Clinic sees patients with questions of familial neurogenetic disorders. Upon making a diagnostic evaluation, we try to delineate the clinical diagnosis and take the most appropriate of these actions:

  • Develop management plans to improve quality of life.
  • Refer patients to a specialist(s) for further treatment.
  • Refer patients to a research group for further study.

Our Specialty: Rare Disorders

The Neurogenetics DNA Diagnostic Lab tests for over 25 neurodegenerative disorders, and we expand our services every year, both in volume and diseases tested. In most cases, we are the only U.S. lab conducting testing for the rarer disorders. This exclusivity makes us a valuable resource to the medical community around the country and the world.

Some of our test protocols have been developed directly from the Massachusetts General Hospital research labs actively working in these areas. We maintain a close working affiliation with these labs, which continually keeps our technology and interpretation up to date.

Certifications and affiliations for the Neurogenetics DNA Diagnostic Lab include:

  • CLIA certification: Our lab meets all standards set by the U.S. government through the Clinical Laboratory Improvement Amendments (CLIA) program.
  • CLIA Laboratory Certificate of Accreditation resources for researchers: Geneticists from this and affiliated labs at Mass General offer consultations for laboratory test protocol development and activation for other Partners and Mass General research labs. We also give referrals to other labs that are looking for atypical cases of the disorders they study.
  • Harvard Medical School teaching affiliation: Our lab is a teaching site for the Harvard Molecular Genetics, Clinical Genetics and Molecular Genetic Pathology fellowship programs.

Neurogenetics Doctors

The Massachusetts General Hospital Neurogenetics Program has earned a national and international reputation for our leading work with rare neurogenetic disorders. Our program has three areas of focus: clinical neurogenetics, diagnostic testing and clinical research.

Clinical Neurogenetics

Founded in the early 1990s, the Neurogenetics Clinic is a local, regional, national and international resource for the diagnostic evaluation of neurogenetic disorders for patients and their families. Our four specialized sub-units include:

  • Lysosomal disorders: We provide clinical care for patients and families with Fabry, Gaucher, Pompe, Hunter, mucopolysaccharidosis (MPS) and neuronal ceroid lipofucsinoses (NCL) diseases.
  • Mitochondrial disorders: We offer clinical coordinated care for patients with energy metabolism diseases.
  • Norrie disease: A recognized world leader in Norrie disease, we make clinical referrals nationally and internationally.
  • Diagnostic dilemmas: We perform clinical diagnostic evaluation of pediatric patients with unknown neurodegenerative disorders (a regional and national service).

Diagnostic Testing

The Neurogenetics DNA Diagnostic Laboratory conducts standard-setting molecular DNA diagnostic testing for over 25 rare neurodegenerative disorders. Since our founding in 1994, we have completed more than 25,000 tests while acting as a local, regional, national and international service to referring physicians and reference labs.

In order to screen negative cases that are important for further research study, we also support ongoing translational research in Norrie disease, NCL diseases, dystonia disorders and amyotrophic lateral sclerosis (ALS) disorders.

Please note: The Neurogenetics DNA Diagnostic Lab is specifically for cases in which patients have been screened by a neurologist or other medical professional and either have, or may have, a rare neurogenetic disorder. Patients should not contact us directly.

Clinical Research

The Neurogenetics Program specializes in translational research into rare neurogenetic disorders. Much of our work involves creating clinical and tissue repositories. These databases are available to Mass General or other researchers exploring the relationships between clinical phenotype, clinical genotype and/or the evolving biology of disorders.

Our four areas of focus include:

    • Lysosomal storage diseases: We conduct clinical trials and participate in a national patient registry.
    • Mitochondrial diseases: We collaborate with internal researchers and keep a patient registry and tissue bank.
    • Norrie disease: We see patients with Norrie disease and keep a patient registry and tissue bank.
    • NCL disorders: We keep a patient registry and tissue bank.

Our program serves as the institutional primary investigator on multicenter national clinical research studies in Fabry, Gaucher and Pompe diseases. In addition, we can refer patients to existing and future clinical trials and research studies both within and outside of Mass General.

Fabry Disease

Fabry disease is a rare genetic disorder, seen in all ethnic groups, caused by a deficiency of a lysosomal enzyme.

Gaucher's Disease

Gaucher disease is an inherited lysosomal storage disorder.

MGH Russell Museum Lunchtime Lecture Series

Paul S. Russell, MD Museum of Medical History and Innovation invites you to attend its latest lecture in its lunchtime series

Partners Neurology Residency

Neurology residents, program graduates, faculty members, and the education director talk about training at Mass General Hospital and Brigham and Women’s Hospital.

Developmental Neurogenetics Program

Yawkey Center for Outpatient Care
32 Fruit Street
Boston, MA 02114

Phone: 617-726-5732

Public Transportation Access: yes
Disabled Access: yes

Clinic & Research Coordinator Phone: 617-726-5732

Mailing Address

Developmental Neurogenetics Program
Charles River Plaza, North Building
5th Floor, Suite 5240
Mailcode: CPZ 185 5-5240
Massachusetts General Hospital
185 Cambridge Street
Boston, MA 02114

Next Steps: