Larry Luxner,  —

As part of her medical training, North Carolina pediatrician Elizabeth Jalazo had studied a little about Angelman syndrome. “I knew enough about it to answer a board question, but I didn’t know the complexity of the disorder,” she said. “I’m sure most general pediatricians would share the same sentiment.”…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Terry Jo Bichell, whose son’s Angelman syndrome inspired her to go back to college at the age of 49 and get a PhD in neuroscience, has long advocated for families affected by the rare neurological disease. But now, she’s branching out. The Tennessee scientist and mother of five…

From the balcony of their spacious home in the Israeli town of Beit Shemesh, Faige and David Spolter enjoy a commanding view of the Judaean Hills, and the ancient Catholic monastery of Beit Jamal overlooking a ridge in the distance. The Spolters are modern Orthodox Jews who immigrated…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

Israel’s Sheba Medical Center at Tel HaShomer already ranks as one of the world’s 10 best hospitals, according to Newsweek magazine. Now, the institution has a new accolade: it’s the first anywhere outside North America to join the international network of specialized clinics accredited by the Chicago-based Angelman…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…