The 56-year-old has a rare genetic disorder called incontinentia pigmenti. The condition causes skin abnormalities like a ...

A team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, ...

A team of Canadian and American scientists has made a promising breakthrough in understanding the origins of a mysterious ...

A new study reveals a genetic connection between bipolar disorder type I (BD-I) and epilepsy, showing shared genetic variants ...

An Overland Park teen completed a 150-mile bike journey Sunday to raise awareness and hope for his rare genetic disorder.

Zevra Therapeutics' drug, Miplyffa, for treating a rare and fatal genetic disorder will have a wholesale acquisition cost ...

The Khyber Pakhtunkhwa (KP) government is considering offering free treatment for patients with Spinal Muscular Atrophy (SMA) ...

CSF1R-Related Disorder is a rare genetic condition causing cognitive decline. Mayo Clinic researchers recently identified ...

This discovery is not only a breakthrough in understanding brain disorders, but also highlights the rising influence of ...

An innovative analysis of shared segments within the genome -- an indication of distant 'relatedness' -- has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal ...

A mother is “absolutely broken” following the death of her two-year-old daughter from a rare genetic condition that also ...

A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the ...