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Heather Lau, MD, MS

Adjunct Assistant Professor
Yale School of Medicine
333 Cedar Street
New Haven, Connecticut, United States

Heather Lau, M.D. M.S. is a board certified Neurologist with special qualifications in Child Neurology. She received her Bachelor of Science with honors from Cornell University and a Master of Science in Biochemistry and Molecular Biology from New York Medical College. Dr. Heather Lau went on to receive her Doctorate of Medicine from the University of Rochester. She trained in pediatrics at Montefiore Medical Center and completed her Child Neurology training as well as additional fellowship training in Neurogenetics from New York University. 

Previously, Dr. Lau was Assistant Professor in Child Neurology at NYU School of Medicine and the Director of the NYU Lysosomal Storage Disorders Program at NYU Langone Health and Associate Director of the Division of Neurogenetics where she maintained a large and diverse practice of patients with rare, inherited disorders of the nervous system with a special interest in lysosomal storage disorders and leukodystrophies. Dr. Lau is currently Adjunct Assistant Professor in the Division of Digestive Diseases in the Department of Internal Medicine. She is actively engaged in clinical research in lysosomal disorders and has been a principal investigator for over 30 clinical interventional trials and disease registries evaluating enzyme replacement therapies, small molecules, and gene therapy.


Representative Publications:

Clinical Characteristics of Patients With Neuronopathic and Non-Neuronopathic Mucopolysaccharidosis Type II: Data From the Hunter Outcome Survey

Cognitive, Medical, and Neuroimaging Characteristics of Attenuated Mucopolysaccharidosis Type II

Enzyme Replacement Therapy With Investigational RhGUS in An Infant With Non-Immune Hydrops Fetalis and Mucopolysaccharidosis Type VII


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