This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief

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

Rare Disease Biotechs Stand To Lose $4B if Priority Voucher Program Not Reinstated: Report

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

Advancing Novel Treatments for Rare Diseases: FDA Unveils and Previews New Efforts to Assess Therapies for Very Small Patient Populations

Since taking the reins as FDA Commissioner, Dr. Martin Makary has repeatedly expressed an interest in new regulatory pathways, or new options for evidence generation, that would enable more flexible ...

Ancient DNA reveals 12,000-year-old case of rare genetic disease

Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated ...
JD Supra

New FDA approval process promotes development of rare disease gene therapies

The U.S. Food and Drug Administration (FDA) announced a new process called “Rare Disease Evidence Principles” (RDEP), under which eligible drugs and biologics for ultra-rare diseases caused by known ...
WDBJ

EARLY YEARS: Virginia teen with rare disease launches nonprofit to encourage youth to advocate for their heath

FAIRFAX COUNTY, Va. (WDBJ) - Classwork by day, A.I. innovation by night. Khartik Uppalapati is a young man with a mission. It all started when he was diagnosed with a rare lymphatic disorder in 2021 ...
STAT

Don’t let hope expire for children with rare diseases

Across America, millions of parents of children with rare diseases are in a race against time, hoping that new treatments will be developed fast enough to save their kids. Thanks to advances in ...
Hosted on MSN

Her 5-year-old has a severe, rare disease. There's a cure, but she can't get it.

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 ...