Patient Advocacy Initiative staff speak on Notre Dame’s Rare Disease Day event and impact for the rare disease community.

Takeda Pharmaceutical teamed up with the Boston Celtics to raise awareness of rare diseases at the C’s-Cavaliers game on ...

In China, a 19-year-old has been diagnosed with Alzheimer's disease, marking him as the world's youngest patient. Despite no ...

Ciarán was one year old when he was diagnosed with the condition, however, Gillian said she knew when he was born that ...

Glenn Padnick, the TV executive who guided Jerry Seinfeld's eponymous NBC sitcom through all nine seasons, has died. He was ...

Donna Reynolds of Richmond knows all too well the devastating toll that a rare disease can take, not just on an individual, ...

Fanconi Anaemia is caused by mutations in genes responsible for DNA repair. It is an autosomal recessive disorder, meaning ...

"Receiving orphan drug designation from the FDA is a significant milestone for DiagnaMed and validates the promise of molecular hydrogen as a potential treatment for ALS. We are excited to partner ...

Nicknamed the “man with the golden arm,” James Harrison donated his blood over 1,100 times over the course of six decades.

Deputy Prime Minister and Minister of Health and Population Khaled Abdel Ghaffar said Egypt has played a crucial role in combatting rare diseases domestically, in collaboration with corporate partners ...

A young woman with liver disease urgently needed a donor. But Nicole Munda didn't imagine the man she met by chance at a NASCAR race would wind up a major part of her life in this "Godwink" story.

Australian medical officials said the railway clerk helped save 2.4 million babies by donating the rare antibodies in his blood every two weeks for over 60 years.