Jewish Genetics Disease Center

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 to:

  • Improve the diagnosis, treatment, and counseling of patients and their families suffering from Jewish genetic diseases.
  • 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 to 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. The Center established the first screening programs for identifying parents who are at a 25 percent likelihood, considered high risk, for having offspring with diseases that occur frequently in the Jewish community. The DNA-based testing that the Center provides can also provide prenatal diagnosis for at-risk couples. The conditions Center screens for include:

  • Tay-Sachs disease
  • Gaucher disease
  • Canavan disease
  • Familial Dysautonomia
  • Niemann-Pick Type A and B diseases
  • Cystic fibrosis

The Center continues to work on new initiatives to develop diagnosis and treatment for the other diseases that primarily afflict individuals of Ashkenazi Jewish descent. This research contributes to combatting many other genetic diseases as well.

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, and other scientists in Japan and Europe.

During the Center’s history, our researchers have won over $50 million in research and training grants from 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.

Future Direction Projects

In the future, the Center for Jewish Genetic Diseases will continue to direct clinical and research activities to develop improved diagnosis, treatment, and prevention for the diseases that primarily affect Ashkenazi Jews. A major component of the program will be continuing to accept the many patients who seek our special clinical, diagnostic, and/or therapeutic services and expertise.

The latest developments in genetic disease research will identify the focus of our future work. One example is finding that one specific mutation occurring in about one percent of Ashkenazi Jews causes inherited breast cancer in Ashkenazi Jewish women. In response, the Center has established a presymptomatic testing program designed to counsel and test and monitor women in families at high risk for inherited breast cancer.

It is likely that many other common diseases that are preventable and/or treatable will have specific predisposing genes and that individuals of Ashkenazi descent are likely to have specific gene lesions for these disorders, making pre-symptomatic testing feasible. In the future, our studies will allow Jewish individuals the opportunity to identify which common diseases they are predisposed to and to implement appropriate prevention and treatment regimens. These diseases constitute research frontiers in the coming years.

In all of our future endeavors, our first goal is to develop diagnostic screening and prenatal diagnosis for each of the Jewish genetic diseases and diseases with genetic markers specific to those of Jewish descent to prevent those diseases. Our second major goal is to develop specific and effective treatment for those suffering from these diseases.

In addition, we are committed to providing psychological support and counseling for affected patients and their families as well as education about these diseases and recent advances to patients, physicians, and the Jewish community.