Kennedy Klehr’s routine pregnancy ultrasound revealed her daughter Huxley had a rare genetic condition, cartilage-hair ...

The new division aims to shorten diagnostic wait times and increase clinical trials. Officials say the investment positions the hospital as a national leader in rare disease treatment. CHICAGO - Ann & ...

Advances in DNA sequencing have revealed something surprising—not everyone with the same genetic change develops the same ...

A rare inherited neurodevelopmental disorder has been officially named after an Abu Dhabi-based geneticist at Burjeel Medical ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

Faced with a life-threatening metabolic disease, KJ’s doctors at Children’s Hospital of Philadelphia sprinted to create a ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

When we think of giraffes, we instantly think of them being the typical combination of dark orange or brown patches surrounded by lighter hair. However, there is a small number of giraffes that have a ...

Catherine O'Hara, who died Jan. 30, previously opened up about a rare congenital condition called dextrocardia with situs ...

Lurie Children’s received an $11 million gift to expand genetics and rare disease care. The new division aims to shorten diagnostic wait times and increase clinical trials. Officials say the ...