A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, correctly identifying diagnoses more often than doctors in a direct comparison.

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet for families affected by rare disease and disability ...

The Orphan Drug Act has spurred rare disease research, increasing treatments from 34 to approximately 800, but access remains limited by coverage and payment models. Most rare diseases still lack FDA-approved treatments, with only 4% to 6% having market ...

THE government has urged health professionals to intensify research efforts to address the growing challenge of rare diseases in the country. The call follows statistics from the World Health Organisation (WHO) indicating that in Tanzania,

Stargardt programs address ABCA4 payload constraints via dual-AAV platforms (VG801, AAVB-039) and explore first FDA-authorized protein-splicing therapy SB-007 in phase 1/2 testing. Encelto, an implanted encapsulated-cell device secreting therapeutic proteins from engineered allogeneic RPE,

Rare Disease Day is held on the last day of February to raise awareness for rare diseases and address drug development challenges.

The U.S. Senate has a plan to improve drug development for rare disease patients. The exit of controversial CBER chief Vinay Prasad will help clear the path.

CNBC Cures aims to help raise awareness of rare diseases and improve patient outcomes for people living with them. Led by "Squawk Box" anchor Becky Quick, the initiative was inspired by her family's own rare disease journey. CNBC Cures is teaming up with ...

A skin condition tied to delusions is posing a riddle for doctors: What to do when a diagnosis causes offense?