Congress did not reauthorize the rare pediatric disease priority review program at the end of 2024. Advocates say the ripple ...

Rare Disease Day provided a forum for university and state leaders to lay out the future plans and share the work already ...

Roanoke's Wells Fargo Tower is lit up Friday night to bring attention to illnesses that impact one in every ten Americans.

Instead, she has spent the past two years bouncing from doctor to doctor before finally being diagnosed with polymyalgia rheumatica, a rare chronic inflammatory disease that causes muscle pain and ...

Global partnerships that embed scientific research into clinical care are revolutionizing the diagnosis and treatments for ...

For more than 15 years, a pulmonologist has tried to understand the random path of devastation that a rare genetic condition carves through the families it affects.

Rare Epilepsy Network provides data & resources on rare epilepsies. There are hundreds of members & partners here to support ...

COPA syndrome causes lung hemorrhaging starting in childhood. But one in three people with the disease mutation are spared.

SAN DIEGO COUNTY, Calif. — The family of a young girl who has an extremely rare disease has reached their goal of raising ...

CJ Dippre has always been committed to his fitness and has developed his strength in the weight room as a high school and ...

But for those with rare diseases, it often raises more questions than answers. What comes next? Will treatment be available? How much will it cost? And perhaps the hardest question of all ...

In the United States, about 15 million children have rare diseases or disorders, defined as affecting fewer than 200,000 people. The particular variant of Henry’s ASTN1 gene is rare even by that ...