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 & ...

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, ...

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

By Tarun Sai Lomte A new AI-driven diagnostic framework combines clinical, genetic, and phenotypic data to help shorten the ...

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 ...

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

A teenager who lived in southern Europe around 12,000 years ago has become the earliest person in history to receive a genetic diagnosis. Ancient DNA from her skeleton has revealed a rare form of ...

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

A rare genetic disease that causes loss of mobility, speech, and can shorten life in First Nations communities has received $9.3 million in national research funding to help find a cure.

Birdwatchers across the Hoosier state are being urged to keep their binoculars ready this spring. A “one-in-a-million” genetic anomaly is turning the ...