Heather Lau

Dr. Heather Lau is an Adjunct Assistant Professor in the Division of Digestive Diseases within the Department of Internal Medicine at Yale School of Medicine. She specializes in neurology with expertise in lysosomal storage disorders and leukodystrophies. Her clinical and research work focuses on rare inherited nervous system disorders, particularly leveraging clinical trials for enzyme replacement therapies and gene therapy.

Education & Training:

• B.S. (Honors) in Biology, Cornell University (1998)
• M.S. in Biochemistry & Molecular Biology, New York Medical College (2000)
• M.D., University of Rochester School of Medicine (2005)
• Pediatrics Residency, Montefiore Medical Center (2007)
• Child Neurology Fellowship & Neurogenetics Fellowship, NYU School of Medicine (2010–2011)

Previous Roles: Formerly at NYU Langone Health as Director of the Lysosomal Storage Disorders Program and Associate Director of Neurogenetics, where she managed a large clinical practice for rare neurological disorders.

Research: Active in clinical research, Dr. Lau has served as Principal Investigator for over 30 clinical trials and disease registries evaluating novel therapies. Her work bridges neurology and digestive diseases, addressing genetic disorders with systemic impacts.

Clinical Focus: Expertise in diagnosing and managing lysosomal storage disorders, leukodystrophies, and other inherited metabolic neurological conditions. Maintains strong ties to translational research and interventional therapies.