Neurogenetic diseases—inherited diseases of the nervous system—are being diagnosed in growing numbers among both children and adults, as a result of advances in biochemical and molecular genetics.

The Division of Neurogenetics at NYU Langone Medical Center is experienced in the comprehensive diagnosis and treatment of these rare, progressive, and often debilitating disorders. The many neurogenetic diseases we manage include Lysosomal Storage Disorders (LSDs), leukodystrophies, mitochondrial disorders, genetic epilepsy syndromes and inherited ataxia syndromes. NYU Langone treats one of the largest populations with Gaucher disease Type 1 in the country.

Neurogenetic diseases typically require complex, lifelong healthcare management. Our team of highly skilled neurologists works to address the specific needs of patients with these conditions, including biochemical and molecular testing and genetic counseling. Since these disorders impact more than just the nervous system, our team collaborates with experts from specialties across NYU Langone Medical Center for treatment of related medical issues. Learn more about evaluation and treatment of these conditions at NYU Langone.

Our Experts

Dr. Heather Lau, director of the Lysosomal Storage Disorders Program, understands the importance of accessibility and personalization for each patient. She maintains a large practice of patients with a wide range of rare, inherited disorders of the nervous system and has a special expertise in the treatment of Gaucher disease. Dr. Lau and her team are actively engaged in cutting-edge research, allowing patients access to the latest treatments.


The Division of Neurogenetics offers care in state-of-the-art facilities, starting with a patient’s initial physician visit at NYU Langone’s 222 East 41st Street, New York, NY 10017. Enzyme replacement therapy is offered at the Center for Musculoskeletal Care and the Stephen D. Hassenfeld Children’s Center for Cancer and Blood Disorders.

To schedule an appointment or to find out more about the Neurogenetics Program at NYU Langone Medical Center, please call us at 212-263-7744.