Researchers at Children's Hospital Colorado (Children's Colorado) and the University of Colorado Anschutz School of Medicine ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...

Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness ...

She had just diagnosed our 11-year-old daughter, Maya, with Nicolaides-Baraitser syndrome, a genetic condition so rare there ...

Twenty-five years after the draft of the human genome sequence, genomics has revolutionized many areas of biology, the diagnosis of familial and early-onset diseases, and the development of targeted ...

A world-first test developed by researchers at the Garvan Institute of Medical Research has identified the genetic cause of inherited muscle disease in people who remained without answers after years, ...

Rare genetic diseases can go years, or even decades, without diagnosis. Standard testing often misdiagnoses these diseases, ...

Inherited eye diseases long believed to be inevitable for those with a certain mutated gene actually occur in just a minority of those cases, according to a recent study. Researchers made the ...

Florida has launched a newborn genomic screening pilot program designed to test babies for more than 900 genetic conditions, making it the first state-funded initiative of its kind in the nation.

Baylor Genetics, a leading diagnostic genomics partner offering a full spectrum of comprehensive genetic tests and diagnostic services, today announced it has been chosen as a strategic sequencing ...