The Division of Medical Genetics and Genomics is home to clinical teams (physicians, genetic counselors, nurse practitioners, nutritionists, social workers, and others) that are committed to identifying and understanding the causes and outcomes of genetic disorders.
Our goal is to practice precision medicine by tailoring medical treatments to the unique characteristics of each patient. By diagnosing patients with rarer or more common genetic conditions and understanding the causes and outcomes of these disorders, we can develop individualized care plans and provide genetic counseling and prognostic information to patients and families.
Our clinicians and care teams provide access to available approved therapies for genetic disorders in addition to actively participating in the development of new treatments for patients with rare diseases.
We are proud to be a National Organization for Rare Diseases (NORD) Center of Excellence. With this designation, we are part of a highly selective nationwide network of 31 medical centers that specialize in rare disease diagnosis, treatment, and research. Learn more here.
Medical Genetics and Genomics Faculty Practice
Medical geneticists and genetic counselors in the Medical Genetics and Genomics Faculty Practice at Mount Sinai Health System specialize in the screening, diagnosis, treatment, and counseling of patients with and individuals suspected of having genetic diseases, birth defects, reproductive problems, or cancer risks. We provide care to individuals from the newborn period through adulthood. Multidisciplinary clinics involve nutritionists, nurse practitioners, physician assistants, social workers, child life specialists, as well as expert collaborators from other departments. Learn more
- Clinical Genetic Disorders Program - Specializing in the care of the people with known or suspected genetic conditions.
- Program for Inherited Metabolic Diseases - Focusing on providing services for the treatment of children and adults affected by inborn errors of metabolism.
- Reproductive Genetic Counseling Program - Evaluating the health and well-being of women who are pregnant or attempting to become pregnant and their fetuses.
- Cancer Genetic Counseling Program - Helping you understand your family history of cancer and the likelihood of a hereditary cancer susceptibility in the family.
- Lysosomal Storage Disease - Working towards the management and treatment of pediatric and adult patients with lysosomal storage diseases.
- Genetics 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.
- Porphyria Comprehensive Diagnostic and Treatment Center - Providing clinical and diagnostic services for children and adults with acute or cutaneous porphyria.
- Congenital Anomalies and Craniofacial Program - A resource for children and adults with congenital or acquired abnormalities, particularly those of the head, neck and limbs.
- Cardiovascular Genetics Program - Evaluating and counseling patients and families with genetic-based cardiovascular diseases.
- Fragile X Spectrum Disorder Clinic - A clinic that provides comprehensive medical evaluations and treatments to patients and families affected by Fragile X Syndrome.
- Mitochondrial Medicine Program - A program that provides comprehensive disease evaluation, counseling, and disease management for patients who have mitochondrial disorders.
- Pediatric 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.
Clinical Trials in Genetics
The research and clinical teams at Mount Sinai’s Department of Genetics and Genomic Sciences are tightly integrated to enable rapid translation of research insights into improved patient diagnosis and treatment. The Department of Genetics and Genomic Sciences has a rich history of developing new therapies for rare diseases. Please visit our clinical trials section to view a list of our current trials. Learn more