Porphyria Diagnosed After PRES Suspected in Teenager

In an unusual case, a 16-year-old girl in India was diagnosed with acute intermittent porphyria (AIP) after radiological findings were suggestive of posterior reversible encephalopathy syndrome (PRES). The combination of abdominal pain with altered neurological and psychiatric status should alert clinicians to the possibility of porphyria, they said. The case…

Gene Therapy Takes Center Stage at 2019 NORD Summit

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

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.