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 Neurogenetics team 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 treat include Lysosomal Storage Disorders (LSDs) , leukodystrophies, mitochondrial disorders, genetic epilepsy syndromes, and genetic neuromuscular disorders , such as inherited myopathies, neuropathies, congenital myasthenic syndromes, and muscular dystrophies. 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 .
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.
Dr. Ricardo Roda , a neuromuscular neurologist with training in neurogenetics, has extensive experience in caring for individuals with genetic neuromuscular disorders, as well as expertise in some of the newer genetic testing techniques. Dr. Roda is also heavily involved in laboratory research that is critical to better understanding and treating muscular and neuromuscular junction disorders.
The Neurogenetics Program offers care in state-of-the-art facilities, starting with a patient’s initial physician visit at NYU Langone’s Ambulatory Care Center (240 East 38th Street, between Second and Third Avenues). 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.