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.
Life expectancy has risen steadily in recent years, with the average American now living for close to 80 years. But that’s nothing compared to the lifespans of people mentioned in the Bible. According to Genesis, Noah’s grandfather, Methuselah, lived the longest, at 969 years of age, with others, including Adam and his kin, not far behind. But even lesser biblical lifespans are astronomical by today’s standards. Abraham reportedly lived to 175; Moses to 120.
Researchers have discovered the first mutations responsible for hereditary breast and ovarian cancer among “pure” Sephardi Jews, leading to calls for a more comprehensive genetic test for high-risk women in Israel. “When a woman of Sephardic origin used to come to our clinic, we would tell her, ‘You are not Ashkenazi, so you might have a mutation in BRCA1 or BRCA2, but it is hard to find it,’” said Dr. Michal Sagi, a genetic counselor at Hadassah Medical Center in Jerusalem, referencing the two genes that predispose women to breast and ovarian cancer.
Screening for genetic disorders has come a long way since the first tests for Tay-Sachs disease in the late 1960s. At the time, clinicians screened the Jewish community by measuring enzyme levels in people’s blood. But in the late 1980s, newer genetic tests became available for Tay-Sachs and, soon after, for a range of other so-called “Jewish genetic diseases” including Canavan disease, cystic fibrosis and Fanconi anemia.
Genetics has long been thought to play a relatively minor role when it comes to the development of Parkinson’s disease. So it came as a surprise to the medical community five years ago when Dr. Susan Bressman and her colleagues at the Beth Israel Medical Center in New York reported that a single genetic mutation in a gene called LRRK2 accounted for a significant portion of all cases of Parkinson’s disease among Ashkenazi Jews.
Scientists are using a revolutionary technique to pinpoint genetic problems that cause a rare eye disorder. It could transform treatments and prevent blindness.
Jewish lore tells of trade and other exchanges with sub-Saharan Africa. A new scientific paper uses DNA to prove an ancient genetic link between Jews and Africans.