Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

Life-saving treatments for children with orphan illnesses often move slowly, if at all, through the federal approval process.

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 commentary titled 'Establishing a Commercial Solution for Extremely Rare Genetic Diseases' was published in Nature Biotechnology Commentary coincides with draft guidance from the FDA outlining a ...

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 ...

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 ...

Natera NTRA announced the commercial launch of Zenith genomics, a next-generation whole genome sequencing assay designed to ...

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 ...

A Marion woman is celebrating a victory for those suffering from rare diseases across the state after securing a proclamation ...

'Defying Rare Disease' premieres Thursday at 7 p.m. ET CNBC Cures aims to help raise awareness of rare diseases and improve patient outcomes for people living with them. Led by "Squawk Box" anchor ...

Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested the referral from her son's pediatrician based on instinct. George took ...