A new method of growing cells helps scientists find treatments for genetic diseases like Riley-Day syndrome. It also means they don’t have to use human embryos.
The BRCA1 gene mutation meant Jill Steinberg faced likely breast cancer. To secure her family’s future, the young mom called radical surgery a ‘no-brainer.’
Gaucher disease patients once had to rely on painful and time-consuming injections. New oral drug treatments are dramatically improving their quality of life.
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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 five years ago to provide New York’s Jewish community with accessible and affordable testing for recessive 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 large. The list also includes four disorders known to be more prevalent among Sephardic Jews.
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 rabbi with whom they’ve placed their trust at such a critical life juncture?
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 carried with increased frequency among people of Ashkenazi Jewish heritage.
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.
The Human Genome Project turned 10 this year. In the decade since scientists first published our genetic blueprint, huge strides have been made in understanding the biological basis of inherited disease, the history of humankind and the role that genetics can play in modern medicine.