Jon Steinberg had always been interested in tracing his family’s genetic ancestry. So, in April of last year, when the California genetic testing supplier 23andMe offered a sale, Steinberg, president of the technology website BuzzFeed, convinced his wife Jill to spit into one of the company’s DNA-collecting tubes. Little did he know that this saliva…
Cynthia Frank was a child when doctors diagnosed her with leukemia. Several blood tests later, they changed their prognosis: She had Gaucher disease, not cancer. That meant she had a longer lifespan, but her quality of life had likely peaked. It was the mid-1970s, and, with no remedy for the rare, inherited metabolic disorder, Frank…
Where To Go for Support and Help BACHMANN-STRAUSS DYSTONIA & PARKINSON FOUNDATION 551 Fifth Avenue, Suite 520 New York, NY 10176 (212) 682-9900 www.dystonia-parkinsons.org Bachmann-Strauss Dystonia & Parkinson Foundation funds scientific research seeking to understand the causes of, and to find potential cures for, the movement disorders dystonia and Parkinson’s disease. BLOOM’S SYNDROME FOUNDATION 7095…
Yeshiva University officially launched its new Program for Jewish Genetic Health with a ribbon-cutting ceremony in February. But the program’s roots go back much further than that. Inspired by Yeshiva’s Tay-Sachs community screens of the 1970s, Dr. Susan Gross, medical director of the human genetics laboratory at the Jacobi Medical Center, launched a pilot effort…
When it comes to weddings, even the most secular of Jewish couples often reverts to tradition and asks a rabbi to officiate at the ceremony. So if the Jewish community needs to get an important message across to prospective parents at all levels of religious involvement, how better to convey that information than through the…
Annual Guide to Jewish Genetic Diseases There are about 20 known “Ashkenazic diseases,” though more are being discovered all the time. Here are diseases that are commonly screened for in Jewish couples who are planning to have children. In many of these diseases, Ashkenazic Jews are more likely to be carriers than the population at…
Two empty champagne bottles sit like trophies on the shelf. Their wrinkled foil labels catch the sun, scattering light onto hanging plants and genetics textbooks. These bottles lost their corks more than 10 years ago, after Susan Slaugenhaupt and her colleagues at the Massachusetts General Hospital discovered the disease-causing mutations responsible for two genetic disorders…
The husband and wife who met with Catherine Quindipan did not expect the news. A community screening program among Persian Jews had revealed that they both were genetic carriers of a condition called hereditary inclusion body myopathy (HIBM), a muscle-wasting disease that starts in early adulthood. “They were absolutely shocked,” said Quindipan, a genetic counselor…
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