Introduction

The Center for Jewish Genetic Diseases at The Mount Sinai Health System in New York City is the first center in the world devoted to the study of diseases that affect Ashkenazi Jews. Established in 1982, the Center has a twofold mission: 1) to improve the diagnosis, treatment, and counseling of patients and their families suffering from Jewish genetic diseases and 2) to conduct intensive research to combat these inherited diseases.

During the past twenty years, the Center has become an international resource for the study, diagnosis, and treatment of Jewish genetic diseases. The Center has successfully used a multidisciplinary team approach to solve problems and overcome research obstacles that transcend the ability of individual researchers or a single field of expertise. The Center has one of the most comprehensive and experienced teams of physicians and scientists in the world devoted to the study of Jewish genetic diseases, with over 40 individuals engaged in research, diagnosis and treatment, counseling, and public education.

Identification, Screening, Prevention, Treatment

Center researchers have made remarkable progress to prevent and treat several Jewish genetic diseases. For example, the Center established the first screening programs for the simultaneous identification of unsuspecting couples who are at high risk (25%) for having offspring with diseases that occur frequently in the Jewish community, including Tay-Sachs disease, Gaucher disease, Canavan disease, Familial Dysautonomia, Niemann-Pick Type A and B diseases, and cystic fibrosis. The DNA-based testing that the Center provides can also provide prenatal diagnosis for at-risk couples.

New initiatives to develop diagnosis and treatment for the other diseases that primarily afflict individuals of Ashkenazi Jewish descent are either underway or planned. Such research will combat not only Jewish genetic diseases, but also many other genetic diseases.

Collaboration, Education, and Training

In addition to making important discoveries and developing new therapies, the Center for Jewish Genetic Diseases has published numerous scientific articles, presented papers at national meetings, and sponsored international meetings so that scientists can interact and more rapidly advance the progress in these diseases. We have also established productive collaborations with researchers at the Hadassah Hospital - Hebrew University Medical School in Jerusalem as well as with other scientists in Japan and Europe.

During the Center’s history, its researchers have been awarded over $50 million in research and training grants by the National Institutes of Health. The Center has become the focus for the training of young physicians and scientists in the care of patients and in laboratory research to improve the diagnosis and treatment of Jewish genetic disorders. In addition, we have established a master’s degree program to train genetic counselors, which focuses primarily on the genetic and psychosocial counseling involved with the diagnosis, management, and treatment of patients and families with Jewish genetic diseases.