Future Directions

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.

Late developments in genetic disease research will identify the focus of our future work. One example is the finding that one specific mutation occurring in about 1% 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 presymptomatic 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 for the next few 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 Jews so they can be prevented. 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.