This year’s Rare Disease Day event Feb. 27 at the Jacobs School of Medicine and Biomedical Sciences focused on updates in research and diagnostics, and advancements in treatment.

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 ...

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 ...

In September, Trump and the FDA commissioner announced the drug was under review to benefit patients with autism. The FDA didn't find evidence of that.

Lysosomal Storage Disorders are genetic conditions caused by enzyme deficiencies that lead to harmful substance buildup in cells, resulting in progressive organ damage. Common disorders in India ...

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 ...

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

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

Add Yahoo as a preferred source to see more of our stories on Google. U.S. Secretary of Health and Human Services Robert F. Kennedy Jr. speaks with U.S. Vice President JD Vance (not pictured) during ...

A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, ...

Add Yahoo as a preferred source to see more of our stories on Google. Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested ...