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 ...

GENA highlights how AI and genomic intelligence transform rare disease identification, speeding diagnosis and improving ...

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

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, ...

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

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 ...

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 ...

The rejection of Disc Medicine Inc.’s experimental compound for a rare and devastating disorder by the US Food and Drug Administration, just months after it received a voucher intended to speed US ...

Leena Panwala and Tim Drury share their stories with "CBS Mornings" about how they're raising awareness and money for INAD, a rare genetic disorder. Panwala created the INAD Cure foundation after her ...