Medical Genetics and Genomics

The Division of Medical Genetics and Genomics at The Mount Sinai Hospital specializes in the screening, diagnosis, and treatment of adult and pediatric patients with or suspected of having genetic diseases, birth defects, reproductive complications, or cancer risks. Our team includes doctors who specialize in medical genetics, as well as genetic counselors, nutritionists, nurse practitioners, and social workers. Our Department of Genetics and Genomic Sciences is one of the largest in the country dedicated to the understanding, prevention, treatment, and cure of genetic diseases and birth defects.

Our Mission

The mission of our Division of Medical Genetics and Genomics is to apply our expertise in understanding human genetic variation as it relates to health and disease across the lifespan. Our goals are to bring the highest quality of care possible to patients with genetic and genomic disorders and to individuals and families at risk for such disorders, from precise diagnostics to state of the art therapeutics. We strive to accomplish this mission while training the next generation of genetics and genomics professionals across multiple disciplines and in collaboration with practitioners from across the Mount Sinai Health System and beyond. We further commit to providing our patients access to cutting-edge research that will shed light on how genetic and genomic variation contributes to human disease and that will bring hope for new treatment options to our patients.

Rare Disease Center of Excellence

The Division of Medical Genetics and Genomics is proud to serve patients as a National Organization of Rare Diseases Center of Excellence. With this designation, Mount Sinai joins a highly selective nationwide network of 31 medical centers that specialize in rare disorders. This innovative network fosters knowledge-sharing between experts across the country, connects patients to appropriate specialists regardless of disease or geography, and improves the pace of progress in rare disease diagnosis, treatment, and research. Centers were chosen based on their ability to provide exceptional rare disease care and have demonstrated a deep commitment to serving rare disease patients and their families using a holistic, state-of-the-art approach.

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