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. NYU Langone Health’s Division of Neurogenetics is one of the leading centers in the world specializing in the diagnosis and management of neurogenetic diseases, including lysosomal storage disorders and leukodystrophies. We treat one of the largest populations of people with lysosomal storage disorders in the country.

Neurogenetic diseases are rare, progressive, and often debilitating disorders that typically require complex, lifelong management. Our highly skilled team works to address the specific needs of people with these conditions, including biochemical and molecular testing and genetic counseling. The many neurogenetic diseases we manage include lysosomal storage disorders such as Gaucher disease, Tay-Sachs disease, Fabry disease, Niemann-Pick disease, Pompe disease, Krabbe disease, metachromatic leukodystrophy, and mucopolysaccharidosis, as well as the variety of childhood and adult-onset leukodystrophies.

Because these disorders impact more than just the nervous system, our team collaborates with experts from specialties across NYU Langone for comprehensive management of patients’ multisystemic disease manifestations. We also facilitate the diagnosis of genetic epilepsy syndromes, inherited ataxia syndromes, Huntington disease, Parkinson disease, and mitochondrial disorders.

The Division of Neurogenetics is directed by Heather A. Lau, MD, MS, a leader in the field of neurogenetics. She maintains a large practice, treating children and adults with a wide range of rare, inherited disorders of the nervous system. She also has 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. She is the principal investigator for a variety of trials evaluating the efficacy of small molecules—such as chaperone therapy and substrate reduction therapy, enzyme replacement therapy, and gene therapy—in treating neurogenetic disorders.

Kara Anstett, MS, CGC, a board-certified genetic counselor specializing in neurology, provides genetic counseling services for the division. Ms. Anstett is a clinical supervisor for the Sarah Lawrence College Graduate Program in Human Genetics. Her professional and research interests include neurofibromatosis, lysosomal storage disorders, educational outreach, and psychosocial counseling for families with hereditary neurological conditions.

Our Team

Heather A. Lau, MD, MS
Director, Lysosomal Storage Disease Program
Associate Director, Division of Neurogenetics
Assistant Professor, Department of Neurology

Kara Anstett, MS, CGC
Certified Genetic Counselor

Patrinia Hawthorne, MA
Research Project Manager

Marissa Ferraris, RN
Senior Research Coordinator

Danika Anganoo-Khan, BA
Research Coordinator

Sara Rodriguez, BS
Research Coordinator

Contact Us

To learn more about the Division of Neurogenetics, please call our office at 212-263-7744.