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. “We told them at the time that we were not Ashkenazi, but…
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. Today, thanks in large part to her pioneering work on treating…
For thousands of people with Gaucher disease, the most common genetic disorder affecting Jews, the next few months will be challenging. Many are going without the drug used to treat their potentially life-threatening enzyme disorder, after a virus contaminated a Boston-area manufacturing plant of biotechnology company Genzyme. Meanwhile, Gaucher patients and their doctors are watching…
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. Timor Baasov, a professor of chemistry at the Technion-Israel Institute…
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. But who exactly are we speaking of when we talk about “the Jews”? That a group that came to…
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…
Who knew that Israel’s Druze had been holding a key to understanding an important dimension of human history? A new examination of the DNA of this small and insular Levantine group — which follows a secret religion and hardly ever intermarries — has brought us one step closer to better understanding how the world’s various…
Perhaps it’s the urgency of Tay-Sachs that brought parents to action when a pharmaceutical company allowed a promising clinical trial to languish. Two years ago, drug company ExSar proposed a trial that would test the chemical pyrimethamine’s ability to restore a vital enzyme in Late Onset Tay-Sachs and Juvenile Tay-Sachs patients. ExSar had three medical…
