Randall Belinfante was a bit baffled. When he and his wife went to take blood tests in preparation for starting a family in 2003, he discovered that the screening included a panel of tests for Ashkenazic Jewish genetic disorders. But Belinfante is Sephardic.
Forty years ago, when Dr. Felicia Axelrod began caring for patients with familial dysautonomia at the New York University Medical Center, 50% of parents who had children with the rare genetic disorder could expect to bury them before they reached the age of 5.
A team of researchers in Israel has made a breakthrough in modifying an until-now highly toxic antibiotic so that it might one day be used to repair defective genes that cause diseases such as cystic fibrosis, Usher syndrome, Duchenne muscular dystrophy and even some cancers.
For thousands of people with Gaucher disease, the most common genetic disorder affecting Jews, the next few months will be challenging.
The Jews have been a continuous feature of human history for at least 3,000 years. As much as perhaps any other group, the Jews have shaped and influenced the Western world, from antiquity to the present.
It is with good reason that Edward Schuchman calls Niemann-Pick Disease type A a “very, very challenging disease.” The neurodegenerative disorder is rare, kills those who have it by age 2 or 3, and has no known cure. But in May, Schuchman and his research team at Mount Sinai Medical Center in New York announced a breakthrough in their work on the disease.
Who knew that Israel’s Druze had been holding a key to understanding an important dimension of human history?
Perhaps it’s the urgency of Tay-Sachs that brought parents to action when a pharmaceutical company allowed a promising clinical trial to languish.
‘If you walk out into the street and tell someone that a company owns their genes, they’ll look at you strangely,” said Barbara Brenner, executive director of Breast Cancer Action. “But that is exactly what has happened.”
Conventional wisdom dictates that runners, like most athletes, improve with experience. A promising freshman cross-country runner might become the school track star by senior year.