About Neurogenetics

The Neurogenetics Program provides multi-disciplinary clinical care, and conducts research for certain neurogenetic disorders. 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.

Clinical Care

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 specialized sub-units include:

• Spinal Muscular Atrophy: We provide comprehensive, multidisciplinary care for patients and families with Spinal Muscular Atrophy from newly diagnosed infants to adults. Our care team includes Neurology, Genetics, Physical Therapy and rehab services, Pulmonary, Orthopedics and Orthotics, and Nutrition.
• Alternating Hemiplegia of Childhood: Our team provides clinical care and multidisciplinary consultation for patients and families with AHC.
• 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.
• Diagnostic dilemmas: We perform clinical diagnostic evaluation of pediatric patients with unknown neurodegenerative disorders (a regional and national service).
• Norrie disease: A recognized world leader in Norrie disease, we make clinical referrals nationally and internationally.
• Rare Genetic Neurodegenerative/Motor disorders: We provide comprehensive clinical care including multidisciplinary support for patients and families with known or suspected gene mutations leading to motor disorders of childhood and early adulthood.

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 areas of focus include:

• Spinal Muscular Atrophy: We conduct clinical trials as well as natural history data collection and proactive care. In addition to trials, we also participate in ongoing research and publications to advance knowledge of this disease and optimal care.
• Alternating Hemiplegia of Childhood: We collect natural history data, research samples and provide proactive care for patients and families with AHC. We participate in ongoing research and publications in this field and are active with the AHC foundation.
• ATP1A3 Mutation: We collect natural history data, research samples and provide proactive clinical care for patients with ATP1A3 mutations.
• 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 Spinal Muscular Atrophy, 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.