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 ...

It’s a rare genetic disorder that impacts a small population, and due to limited research, much remains unknown about ...

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 ...

Apprehension for Oliviero Toscani, 82 years old, hospitalized since this morning in the emergency room at the Cecina hospital ...

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 ...