Many children in a Brazil town lost the ability to walk, so one scientist set about discovering why.

President Trump recently signed a wide-ranging executive order urging Congress to amend a crucial provision of a Biden-era ...

Joyce Lokonyi sits on an upturned bucket, fingers weaving palm fronds as the wind pulls her dress to expose the stump of her ...

Michelle and Samantha Pearson are a mother-daughter duo diagnosed with NF1-PN, a rare and painful disease that causes benign ...

AI tools are transforming rare disease diagnosis, slashing timelines and offering faster, accurate solutions for patients ...

FDA Commissioner Marty Makary’s proposal to roll out a new drug approval pathway is heightening hope for the rare disease ...

Alan Jackson was diagnosed with Charcot-Marie-Tooth disease, a degenerative nerve condition, in 2021. Here's everything to ...

In a groundbreaking European project, over 500 people living with mysterious medical conditions have finally received a ...

Despite rapid advances in genome and exome sequencing, many individuals with rare diseases remain undiagnosed. In a ...

SPRINGFIELD, Mass. (WWLP) – Golfers were helping to find a cure for a rare disease over at Springfield Country Club. Monday ...

The Hood River County Health Department confirmed April 14 that two people have died from a mad cow-like illness called ...

In one case study, it was found that weekly music therapy sessions helped one ten-year-old child with Batten disease better ...