Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

Hackathons using AlphaGenome and other AI models are hunting down the genetic causes of devastating conditions that have ...

Research on rare diagnoses and the development of precision medicine depend on patients being able to share their health data in a secure and ethical manner. The research study, published in ...

Some 200 rare disease therapies are at risk of losing eligibility for a pediatric priority review voucher, a recent analysis ...

The Senate failed to pass a massive spending bill on Thursday—which includes the rare pediatric PRV program but also funding for the Immigration and Customs Enforcement’s large-scale crackdown in ...

A 2-year-old boy died from a rare disease with flu-like symptoms, just weeks before his third birthday. Hudson Hughie Martin, ...

The seven-year medical odyssey that once defined rare disease diagnosis is being rewritten by algorithms capable of identifying medical zebras in the time it takes to refresh your social media feed.

Oxana Iliach is a Senior Director of Regulatory Strategy at Certara (PA, USA), a biotech company that offers comprehensive solutions for transforming and accelerating drug development. In her spare ...

Torie Bosch is the First Opinion editor at STAT. Celena Lozano’s son Benny, who turned 5 in November, loves trains, trucks — anything that goes. He also has a rare disease, PURA syndrome. Earlier this ...

On January 22, 2026, Curant Health’s Curant Rare announced a collaboration with Cencora that combines Cencora’s commercialization and logistics capabilities with Curant Rare’s specialty pharmacy and ...

Researchers identified the earliest case of a genetic disease with the help of DNA: ...