Medical Genetics and Genomics
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.
Genetics at Mount Sinai Health System
Cancer Genetic Counseling Program
Helping patients understand their personal risk and family history of cancer
Learn MoreDown Syndrome Program
Preventing and treating the medical, developmental, and psychosocial challenges of this condition.
Learn MoreCardiovascular Genetics Program
Our team is dedicated to evaluating, counseling, and treating patients and families with genetic-based cardiovascular diseases.
Learn MoreClinical Genetic Disorders Program
Patients throughout the world come to Mount Sinai for our expertise in genetic disorders.
Learn MoreMultidisciplinary Cleft and Craniofacial Program
Internationally-recognized specialists in caring for patients with birth defects and craniofacial anomalies.
Learn MoreFragile X Syndrome and Fragile X-related Disorders Program
We provide comprehensive medical evaluations and treatments to patients and families affected by Fragile X Syndrome.
Learn MoreGenetics Infusion Program
As part of the Lysosomal Storage Disease Program, this outpatient infusion suite provides a private and comfortable environment in which patients can receive infusion therapy.
Learn MoreInherited Metabolic Disease Program
Our specialists are equipped with research and clinical expertise to diagnose and treat inherited metabolic disorders.
Learn MoreLysosomal Storage Disease Program
We have a history of groundbreaking research and the development of life-saving treatments for lysosomal storage diseases.
Learn MoreMitochondrial Medicine Program
As experts in mitochondrial disorders, we deliver complete care for patients including comprehensive disease evaluation, counseling, and disease management.
Learn MorePediatric Liver Metabolic Transplant Program
This is a joint program run by the Metabolic Genetics Group and Recanati Miller Transplantation Institute to treat pediatric patients with inherited disorders of metabolism.
Learn MorePorphyria Comprehensive Diagnostic and Treatment Center
Mount Sinai doctors are international leaders in porphyria research and treatment.
Learn MoreReproductive Genetic Counseling Program
Helping to manage the health of pregnant women and their fetuses, and women attempting to become pregnant.
Learn MoreTelegenetics
We offer genetic counseling services to patients via secure video conferencing.
Learn More