Mount Sinai

Department Of Human Genetics at the Icahn School of Medicine at Mount Sinai

Established in 1993, the Department of Human Genetics at the Icahn School of Medicine at Mount Sinai has three missions: basic research that translates into prevention and cures for genetic diseases, public and physician education, and the provision of outstanding clinical care.

The Department is one of the largest units in the country devoted to the understanding and cure of genetic diseases, birth defects, and genetic pregnancy loss. Currently, the Department has more than 160 members including 32 full-time primary faculty, ten additional faculty with joint appointments and 12 genetic counselors. There are over 50 postdoctoral fellows (M.D., Ph.D., or M.D./Ph.D.), predoctoral fellows, and genetic counseling students. In addition, there is a staff of over 80 individuals including research technicians and administrative assistants.

The Department houses the Mount Sinai Center for Jewish Genetic Diseases, the only such center in the world devoted to diseases afflicting individuals of Ashkenazi Jewish descent. In addition, the Department is closely affiliated with the Mount Sinai Institute for Gene Therapy and Molecular Medicine, the Mount Sinai Child Health Research Center, the Mount Sinai Comprehensive Sickle Cell Program, and the Mount Sinai Clinical Research Center.

The Department’s basic science faculty are performing National Institutes of Health-funded research studies designed to identify and characterize disease-causing genes, and to develop new methods to prevent, treat, and cure inherited diseases. Using the most sophisticated genetic, molecular, and biochemical techniques, our faculty have isolated and characterized the disease-causing genes for over a dozen genetic disorders (e.g., Fabry disease, Niemann-Pick A, B and C diseases, Schindler disease, Maroteaux-Lamy disease, Farber disease, X-linked Sideroblastic Anemia, Congenital Erythropoietic Porphyria, ALA-Dehydratase Deficiency, Pycnodysostosis, Noonan Syndrome, WHIM syndrome, and May-Hegglin anomaly, etc.).

In addition, our researchers have identified and characterized the genetic mutations causing these disorders and others. Another major research focus of our basic science research is the development of therapies to treat or cure genetic diseases. Our faculty developed an enzyme replacement therapy for Fabry disease which has been approved by the FDA and similar agencies world-wide, and are carrying out research projects to develop or improve enzyme replacement therapy for Niemann-Pick disease and Gaucher disease. In the next year, an international clinical trial of enzyme replacement therapy for Niemann Pick B disease will begin with the major trial site at Mount Sinai. We also have been the first to develop a novel approach to treat genetic diseases by rescuing mutant proteins, and have demonstrated clinical ‘proof of concept” for this therapeutic approach. In addition, our faculty are actively conducting research to develop gene therapy for these disorders, and for sickle cell disease, diabetes, phenylketonuria, congenital erythropoietic porphyria and acute intermittent porphyria.

These sophisticated research studies are facilitated by the availability of Departmental dedicated core research facilities. These core facilities provide access to shared major items of equipment used by Departmental faculty and trainees to facilitate their research. These include state-of-the-art core facilities for: 1) DNA synthesis, sequencing, and mutation analysis, 2) disease gene discovery, 3) generation of ‘knock-out’ mice by gene targeting, 4) mass spectroscopy and proteomics, 5) imaging and computing, and 6) pathologic and histological analyses.

The mission of the Department’s clinical faculty is to provide patient care, education, and clinical research of the highest quality. Our physicians and genetic counselors are involved in the care of over 6,000 patients per year. We provide a vast array of highly sophisticated services including: genetic screening to identify disease gene carriers, counseling of women who have had a teratogen exposure during pregnancy, evaluation of couples with pregnancy loss, prenatal diagnosis for genetic disorders, as well as the diagnosis, treatment and counseling of families with genetic diseases and birth defects. The education of families and provision of psychosocial support for families with genetic disorders also is an important component of the clinical services. Our biochemical, cytogenetic, and molecular genetic diagnostic laboratories provide sophisticated screening and diagnosis for scores of genetic disorders.

Our Department houses the Mount Sinai Center for Jewish Genetic Diseases, the first such center established for the study, prevention, and cure of inherited diseases prevalent in the Jewish population. Research on these diseases has led to our ability to provide state-of-the-art screening for carrier identification and prenatal diagnosis for Tay-Sachs disease, Canavan disease, Niemann-Pick disease, Gaucher disease, cystic fibrosis, Bloom syndrome, Fanconi Anemia, familial dysautonomia, Mucolipidosis IV, and maple syrup urine disease. Our Comprehensive Gaucher Disease Program, the largest such program in the United States, provides expert diagnosis, treatment and counseling for over 500 afflicted families.

In addition, the Department has one of the largest Inherited Metabolic Disease Programs in North America with over 400 active patients who receive their comprehensive care from our team of specialists. We are the referral center for the New York State Newborn Screening Program. We confirm, treat, and counsel families with known or suspected metabolic diseases, as well as for Sickle Cell disease and other hemoglobinopathies. The Genetic Disease Foundation provides the support for the genetic counseling services available to all of our Sickle Cell patients and families. Since many of these disorders are rare, this program offers the specialized diagnostic, medical management, nutritional, psychosocial, and genetic counseling services needed to properly care for these patients and their families.

The Department is committed to train the future generation of expert geneticists. Our training program is funded by an NIH training grant now in its 27th year, and our Medical Genetics residency program was the first program of its’ kind to be approved in the country. We also train bright young scientists to be cytogeneticists, biochemical geneticists, and molecular geneticists; these individuals become board certified to direct genetic diagnostic and therapeutic monitoring laboratories. We also are proud of our highly sought after Master of Science program which trains genetic counselors. Our faculty is continually involved in the education of both the lay public and the medical community regarding the rapidly-changing advances in genetic medicine.

Departmental faculty are heavily engaged in a variety of clinical research studies to develop new and effective strategies for diagnosis, screening, and prevention, as well as for the evaluation of new therapeutic modalities. Among current clinical research studies are projects to determine the safest and most accurate methods of prenatal diagnosis, strategies to provide population carrier screening for an increasing number of genetic disorders, ways to improve genetic counseling methods, evaluation of screening for susceptibility to breast and colon cancer, and the development and clinical evaluation of new or improved therapies for a variety of genetic diseases.

Learn more at the Department of Genetics and Genomic Sciences website.