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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.
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:
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.
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:
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.
Winnie Xin, PhD, DirectorEmail: email@example.comCharles River Plaza, North BuildingKathryn J. Swoboda, MD, Co-DirectorEmail: firstname.lastname@example.orgCharles River Plaza, North Building
Clinical Coordinator can be reached at 617-726-5732.
Fabry disease is a rare genetic disorder, seen in all ethnic groups, caused by a deficiency of a lysosomal enzyme.
Gaucher disease is an inherited lysosomal storage disorder.
Neurology residents, program graduates, faculty members, and the education director talk about training at Mass General Hospital and Brigham and Women’s Hospital.
Neurogenetics Clinical Program185 Cambridge Street 5-240Simches Research BuildingBoston MA, 02114Phone: 617-726-5732
Neurogenetics Research Program 185 Cambridge Street 5-240Simches Research BuildingBoston MA, 02114Phone: 617-312-8318
Neurogenetics DNA Diagnostic Laboratory185 Cambridge Street 5-300Simches Research BuildingBoston, MA 02114Phone: 617-726-5721
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