Managing the unpredictable symptoms of indolent systemic mastocytosis prompted a search for answers and community.

He was taken to Red Cross War Memorial Children's Hospital in Cape Town where he was diagnosed with a rare condition in which ...

Altruism values for treatments of rare, severe pediatric diseases have not been estimated. This study found the altruism value for a hypothetical new Duchenne muscular dystrophy treatment to be $80 ...

Overcoming the doctor’s ego is a first hurdle for many rare disease patients in search of a diagnosis. This article is the ...

With over 40% of all medicines in the pipeline aimed at rare diseases, the future looks positive for increasing the number of treatments available. However, as Ben Hargreaves discovers ...

On Friday at Jim Pattison Children’s Hospital in Saskatoon, federal Health Minister Mark Holland and provincial Health ...

The Poteau community is helping raise funds for a puppy with a rare disease.

Rare by Design is a pioneering non-profit organization dedicated to fostering a world where individuals with rare diseases ...

FDA Accepted Agios’ Supplemental New Drug Application for PYRUKYND® (mitapivat) in Adult Patients with Non-Transfusion-Dependent and Transfusion-Dependent Alpha- or Beta-Thalassemia; PDUFA Goal Date ...

The Saskatchewan government has agreed to a $40 million deal with Ottawa to improve access to medication for rare ...

Rare diseases aren’t as rare as the appellation suggests. For instance, according to the US Government Accountability Office , 30 million Americans have a rare disease, a little less than 10% of ...

PacBio (NASDAQ: PACB), a leading provider of highly accurate long-read sequencing solutions, announced a significant publication from Radboud University Medical Center (Radboudumc) and its research ...