Mar 16, 2004 -- For centuries, Jewish communities lived in fear that many of their babies would thrive through infancy, only to become blind and demented as toddlers and die by age 5. That described the ordeal of Joseph Ekstein, a Hasidic rabbi in Brooklyn. Over three decades, he and his wife lost four children to Tay-Sachs Disease, and their experience was not unusual. Some families were just unlucky. Today, the curse of Tay-Sachs is being lifted—not through better treatment (the hereditary disease is still as deadly as ever)—but rather with advanced genetic screening at YU’s Albert Einstein College of Medicine. “The whole field of genetics has undergone a revolution,” says Harold Nitowsky, MD, director of reproductive genetics at the Montefiore Medical Center, who launched the Tay-Sachs program in the 1970s. Montefiore is Einstein’s university hospital. Tay-Sachs is a genetic disorder, common to those of Central or Eastern European Jewish descent, which affects the central nervous system of infants, causing paralysis, blindness, and eventually death. Dr. Nitowsky says his chief task 30 years ago was not only to establish and perfect an accurate screening system, but also to inform Jews throughout New York that they should get active in staving off disease. He did so against a backdrop of ignorance among physicians, who were either unaware of the tests or were not offering them to their patients. And he watched with dismay as babies continued to be born to couples who had no idea that they carried aberrant genes. Dr. Nitowsky then began visiting Jewish community centers, synagogues, and campus Hillel branches throughout the metropolitan area, urging Ashkenazi Jews who were most at risk to get tested. Under Dr. Nitowsky’s direction, Einstein screened an estimated 30,000 people between 1979 and 1982. Lab technicians measured the level of a certain enzyme that broke down fatty substance in the blood. A carrier has one-half the normal amount of the enzyme, and the test was considered 99 percent accurate. Rabbi Ekstein learned of Dr. Nitowsky’s success during a routine office visit with his pregnant wife. Encouraged by the results and the desire to help others in his Brooklyn Hasidic community, Rabbi Ekstein established, with Dr. Nitowsky’s help, Chevra Dor Yeshorim, the Association of an Upright Generation. Dor Yeshorim works within ultra-Orthodox communities to remove the stigma that sometimes surrounds genetic disease. In the past, ignorance about the way genetic diseases are passed to future generations often meant entire families were stigmatized even if one member was afflicted. Before becoming engaged, prospective mates would simply call Dor Yeshorim and read off the code numbers assigned to their test results. If the records showed that neither person carried the gene, or that only one person did, the match was judged to be sound. But if both partners happened to be carriers, meaning any child they conceive would have a one-infour chance of suffering the fatal disease, (as many as one in 25 Ashkenazim are carriers of Tay-Sachs,) the marriage would not take place. Thus, by keeping the screening results secret and revealing them only if both partners were carriers, Dor Yeshorim could protect the marriageability of many ultra-Orthodox youth in large families. Before such screening was possible, couples would learn they were both carriers only after an afflicted child was born. The experience of watching babies suffer and slowly die was so devastating, many of the parents never had other children. Now, says Dr. Nitowsky, the number of babies nationwide born with Tay-Sachs has dropped from 50 a year to 5, and most of those are born to non-Jewish couples who happen to have the mutated gene. The success in Tay-Sachs testing has prompted doctors at Einstein and other research hospitals to expand screening to include eight other genetic disorders afflicting Jews of Ashkenazi descent. “Education [on genetic diseases] is spotty,” says Susan Gross, MD, associate professor of obstetrics, gynecology, and women’s health, and co-director of the Montefiore division of reproductive genetics. “Some doctors may know about Tay-Sachs now,” she says, “but fewer know about Canavan Disease and even less are familiar with Bloom Syndrome, Fanconi Anemia, or Mucolipidosis IV.” To that end, Dr. Gross has consulted with experts on genetic disease research, plus the Jewish community at large, to help secure funding for expanded testing. “The other eight or nine genetic disorders should die out with screening, just like Tay-Sachs,” says Dr. Gross. “That’s what we want to do with our screening program. Hopefully, like Tay-Sachs, if there’s a strong enough push to do this, doctors and others will catch on, and screening will become standard care.” One hurdle, says Dr. Gross, is a health insurance system that tends to cover costs for people who are already ill, leaving preventive care, such as screening, a personal responsibility. For some families, knowledge of their genetic history may seem overwhelming, especially when the results affect their self-worth and human relationships. Says Nancy Neveloff Dubler, a professor of epidemiology and population health who directs the bioethics program at the Montefiore Medical Center, “It’s essential that individuals and couples understand the personal ramifications of genetic testing.” Ms. Dubler says she believes many lives can be saved if individuals learn about their genetic susceptibilities to disease so they can make lifestyle changes or seek preventive medical care. But, she warns, most people will forgo screening if they believe information gleaned from such tests could jeopardize their jobs or health insurance. She supports federal legislation against genetic discrimination. However, she says, such laws must reflect expertise from clergy, lawyers, and ethicists, as well as others including doctors and researchers. “This is an opportunity to create a community of understanding that could reach beyond the specifically affected individuals,” she says. Indeed, removing the stigma and anxiety associated with genetic testing remains a Yeshiva University imperative, says Dr. Gross. “Many YU rabbis have been very supportive of testing, certainly for students,” she says. “They’re particularly advanced and sophisticated on this issue.” Such cross-disciplinary support, she says, sets YU apart as an academic institution that melds Jewish ethics with cutting-edge science.