Actress Isabelle Tate passed away from Charcot-Marie-Tooth disease shortly after making her television debut on the ABC ...

(CNN) — “Matter of Time,” a documentary featuring Pearl Jam frontman Eddie Vedder that is set to debut this summer at the Tribeca Film Festival, is being billed as much more than a concert film – it’s ...

Chloé Zhao’s “Hamnet” was the big winner at the San Diego International Film Festival, winning both the best Gala Film (jury ...

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested the referral from her son's pediatrician based on instinct. George took ...

An award-winning documentary film about a controversial disease will be screened Sunday at the midtown Loft Cinema. Co-presented by the Arizona Lyme Disease Association, the screening of "Under Our ...

Rare diseases are complicated and communicating reliable, accessible health information around them can be even more complicated. Some conditions like RPI deficiency or Aicardi syndrome affect less ...

The FDA has outlined a new review process for drugs and biologics designed to treat ultrarare genetic diseases that would allow a single-arm trial, plus other supportive data, to serve as pivotal ...