About Mount Sinai Genetics

The Medical Genetics practice at Mount Sinai specializes in the screening, diagnosis, counseling, and treatment of patients with or suspected of having genetic diseases, birth defects, hereditary cancer susceptibility or reproductive-related genetic disorders. Our practice consists of physicians who specialize in medical genetics, genetic counselors, nutritionists, nurse practitioners, and social workers.

Mount Sinai’s legacy of pioneering research and clinical care in genetics includes:

  • Development of treatments for Fabry disease and Niemann-Pick disease
  • Dedicated infusion suite for patients receiving therapy for lysosomal storage diseases
  • Ranking #4 nationally for NIH funding for genetics research
  • Home to one of the largest Newborn Screening Referral Centers in the United States and the leading referral center in the New York tri-state region for the evaluation of patients suspected of having inborn errors of metabolism
  • Highly engaged in multi-center, international, observations and interventional clinical trials studying more than 25 genetic conditions
  • Over 100 departmental faculty patents
  • A top tier, state-of-the-art, genomic testing and diagnostics venture – Sema4 – formerly, the Mount Sinai Genetic testing laboratory

Patients receive the best care from our world-renowned specialists in the areas of in lysosomal storage diseases, urea cycle deficiencies, congenital and craniofacial abnormalities, inborn errors of metabolism, mitochondrial disorders, and more.