VIENNA--(BUSINESS WIRE)--Between 27 and 36 million 1 people in Europe are living with a rare disease, yet only around six percent currently have access to an approved treatment 2. Progress in ...

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare diseases. Here are some of the stories we received. Living with a rare disease ...

This article was featured in New York’s One Great Story newsletter. Sign up here. The first nine days of Jorie Kraus’s life followed a pattern: problem, solution. Problem, solution. Problem: Jorie was ...

Rare Disease Day began in 2008, launched in Europe by EURORDIS to shine a light on millions living with conditions that were often misunderstood, misdiagnosed or ignored. Nearly two decades later, the ...

Danish dermatology specialist Leo Pharma and its CEO Christophe Bourdon came to San Francisco to attend the J.P. Morgan Healthcare Conference for a specific reason. “I know the power of addressing ...

FDA proposes using a well-supported mechanistic rationale plus natural history comparators to generate substantial evidence when randomized trials are infeasible for ultra-rare populations.

"Squawk Box" co-host Becky Quick launched CNBC Cures in January, the network's initiative to raise awareness for rare diseases. Since its launch, CNBC has rolled out a weekly CNBC Cures newsletter, a ...

Communication gaps, preventable delays and limited support place significant responsibility on patients on the rare disease journey, a new survey finds. The survey (PDF) was conducted by PANTHERx Rare ...

This past spring, a biotech company announced the first use of a new gene-editing technology in people to fix an errant gene that causes a severe immune disorder. In June, a baby born with a ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...