Imagine a bruise that never heals — instead, it hardens into bone. A small swelling that doesn’t fade but permanently locks 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, ...

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 ...

Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental ...

ZTTK is identified primarily in children and is characterized by intellectual disability, delayed musculoskeletal development and multi-organ anomalies, and is caused by loss of function in the SON ...

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

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

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

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 ...

“How I Met Your Mother” co-creator Craig Thomas talks with “Enable: The Disability Podcast” about his son, who was born with a rare genetic disorder known as Jacobsen Syndrome. Thomas, who was working ...

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare ...

It took a while for the science to basically catch up to that suspicion.” In these types of “recessive” conditions, the ...