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, ...

Author: Dr Shrikant Jamdade, Clinical Geneticist, Mumbai Spinal Muscular Atrophy (SMA) is a common genetic disorder affecting ...

A team of researchers from the Chinese Academy of Sciences has uncovered compelling evidence of a genetic link between ...

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.

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

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

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 ...

Kolton, 7, and Karson, 5, have Usher syndrome. Both boys were born with hearing loss, which required them to wear hearing ...

Researchers evaluated the impact of recessive genetic variants on developmental disorders, proposing that reanalyzing genetic ...