Neurogenetics

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 DNA Diagnostic Laboratory

Neurogenetics Program: 617-726-5732

Overview

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.

Team Members

Winnie Xin, PhD, Director
Email: wxin@mgh.harvard.edu
Charles River Plaza, North Building

Kathryn J. Swoboda, MD, Co-Director
Email: kswoboda@mgh.harvard.edu
Charles River Plaza, North Building

Clinical Coordinator can be reached at 617-726-5732.

Conditions & Diseases

  • 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.

Video

  • Partners Neurology Residents at Mass General

    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.

Contact

Neurogenetics Clinical Program
185 Cambridge Street 5-240
Simches Research Building
Boston MA, 02114
Phone: 617-726-5732

Neurogenetics Research Program
185 Cambridge Street 5-240
Simches Research Building
Boston MA, 02114
Phone: 617-312-8318

Neurogenetics DNA Diagnostic Laboratory
185 Cambridge Street 5-300
Simches Research Building
Boston, MA 02114
Phone:  617-726-5721

Neurogenetics DNA Diagnostic Laboratory

Neurogenetics Program: 617-726-5732

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