Norrie disease is an extremely rare, inherited genetic disorder that causes vision loss and was first described in Denmark in ...

Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a ...

Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect.

"Our research reveals the potential for digenic inheritance—where two genes work together to cause disease—expanding our ...

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas ...

New research suggests a genetic variant in the NOVA1 protein may have played a key role in the emergence of human speech.

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

Medical genetics department expands services, designated as Centre of Excellence under National Policy for Rare Diseases.

A combination of human pedigree analysis and fruit fly genetics has identified a gene variant that appears to prevent PIGA-CDG, a rare but serious seizure disorder. The findings could ultimately lead ...