Conference focuses on genetic diseases

Conference focuses on genetic diseases

Staff Writer, New Jersey Jewish News

Dr. Peter Zauber discussed studies on Ashkenazi Jews and gene mutations that can lead to colon cancer.
Dr. Peter Zauber discussed studies on Ashkenazi Jews and gene mutations that can lead to colon cancer.

New Jersey Jewish News is joining forces with local health-care providers to offer community conferences on developments in health-related fields. Jewish genetic diseases, including advances in detection and treatment, was the focus of an event on Nov. 6, held at the Aidekman campus in Whippany. It featured Drs. Eric Forman, an in vitro fertilization specialist; Peter Zauber, a gastroenterologist; and Michael Wajnrajch, senior medical director for Pfizer pharmaceutical corporation, who spoke, respectively, about how to avoid Jewish genetic diseases, the hereditary aspects of colorectal cancer, and a treatment developed in Israel for Gaucher’s disease.

About 25 people attended.

For Forman, key advances in detecting genetic diseases in Ashkenazi Jews are all about prevention. Rather than focusing on testing for the possibility of genetic diseases after a woman gets pregnant, he said, it makes more sense to do so in advance, which he is more readily able to do when using IVF — in part because he is already involved in the process both before an embryo is formed and before it is implanted. People not using IVF or not already aware that they are carriers may be less likely to engage a professional. In fact, in response to one audience member’s suggestion that society should adopt a policy of testing every embryo, Forman responded. “I don’t see that happening. If you don’t need IVF, the natural way of getting pregnant has its benefits.” 

He added, “Starting everyone in a lab rather than in the body? I don’t see that.” Still, he said, for couples who know they are carriers — either because they have been tested or because they already have children with issues — screening can be beneficial. In those cases, he encouraged the use of pre-implantation genetic diagnosis — in which an embryo is tested for genetic diseases before being implanted. As he put it, “It’s safer than termination, and it is more ethically, emotionally, and psychologically acceptable to select an embryo rather than disrupt a pregnancy.” 

Forman also offered high praise to the organization Dor Yeshorim, which, he said, has done such an outstanding job screening Orthodox youth for Tay Sachs before they marry so that certain shidduchim, matches, are not made. Because of that, “there are more babies born with Tay Sachs that are non-Jewish than Jewish.”

Zauber, who is running a series of studies on Ashkenazi Jews who have had a colonoscopy, with the aim of finding possible inherited genetic changes, discussed inherited mutations that can cause cancer — though of 130,000 new cases of colon cancer in the United States each year, he said, only 3-5 percent result from inherited gene mutations. He described five different mutations, all associated with Ashkenazi Jews, that predispose them to colon cancer. However, beyond having regular screenings and the opportunity to participate in a study, there are no special actions Ashkenazi Jews need to take vis-a-vis colon cancer. “At least not yet,” he said, suggesting that some day, there might be gene therapy to correct the mutation.

Wajnrajch described the spectrum of effects Gaucher’s disease can have, from killing infants to barely affecting people into their 80s. “Most people fall somewhere in between,” he said. The disease, which prevents the blood from producing an enzyme that breaks down a particular fatty sugar in the blood, causes a significantly enlarged spleen and liver. It is 100 times more common in Ashkenazi Jews than in the general population, although it is still considered rare. He described one of the treatment drugs, Elelyso, produced in Israel in carrot cells, which triggers the production of the required enzyme. (It is one of three companies around the world that produce similar drugs.) While treatment currently requires regular injections, the Israeli team is working on creating a treatment that could be grown and delivered in the carrot cell and taken orally, as opposed to through injection.

In addition to NJJN, the event was sponsored by Barnabas Health, Pfizer, and Jewish Family Service of MetroWest, a partner agency of Jewish Federation of Greater MetroWest NJ.

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