A woman born with a rare genetic condition has never let it limit her passion -- especially when it comes to hockey.

A 13-year-old with rare Weaver-Smith syndrome gets custom shoes designed to fit her size 22 feet and grow with her.

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Exclusive: One in four wait at least three years for diagnosis and many face treatment ‘access lottery’, according to report ...

This Ice Age pair of hunter-gatherers were both shorter than average for their population – one of them markedly so – and now we finally know why. A team of researchers from Europe re-examined the ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

Hunter Syndrome is a rare genetic condition that can cause damage to the body and the brain. It often causes children to pass away in their teens, but a UNC Health ...

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.

Sidra Medicine, a member of Qatar Foundation, has highlighted the real-world impact of precision medicine on a six-year-old patient with a rare genetic condition. Marking Rare Disease Day observed ...

Doctors warn that Bulgaria’s healthcare system still lacks a sustainable framework for genomic diagnostics, patients are paying the price ...

Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same disease, or any disease at all. Some people may develop symptoms early in life ...