Children with rare debilitating brain diseases suffer from mutations in a little-known protein complex

Thousands of times per year, a family's moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...
AOL

Millions of children with rare diseases set to benefit from faster diagnosis and better treatments

A new initiative promises faster diagnoses and improved treatments for children living with rare diseases across the UK. The KidsRare platform will provide researchers with access to data from various ...
MinnPost

Congress can save lives with Rare Pediatric Disease PRVs

MinnPost’s journalists are out in the community to report on the things that are happening in Minnesota. Your support right now will help fund their work AND keep our news paywall-free. Every year, ...

Rare disease families find roadmap to drug development at bootcamps

Ultragenyx’s Rare Bootcamp gives families a roadmap to help drive research and develop new treatments for rare diseases.
WFSB

Parents keep faith as their children battle a rare disease, affecting only 30 kids in US

QUINCY, Ill. (WGEM/Gray News) - The Kempf family says they have received devastating news about their children when it comes to a rare disease. Both of their children have been diagnosed with ...
CNBC

A lost voice, a rare disease and the family conversations that followed

Our inbox has been flooded with emails from viewers and readers who told us how their lives have been affected by rare diseases. Here are some of the stories we received. Living with a rare disease ...
AOL

This rare disease destroys a child's ability to walk and speak. Could a new drug help?

Ever since her 15-year-old son Cole was diagnosed with a rare, progressive illness called Hunter syndrome when he was 2, Kim Stephens has been waiting. Waiting to see if Cole will lose his ability to ...