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

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces-short reads.

This was missed by doctors when she was pregnant with her first son, Nathan, who she gave birth to in 2007, as doctors told ...

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

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

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces—short reads. Christian Gilissen, ...

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 ...

Stephanie Kern lost her husband to PSP, a disease so rare that only 5 out of every 100,000 people get it. She shares her ...

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 ...

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 ...