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

A 6-week-old boy is fighting for his life inside OHSU Doernbecher's pediatric intensive care unit after being diagnosed with ...

Blindness and deafness in some infants and sickle cell are among the conditions cured in recent gene therapy trials.

More than 100 marchers took to Capitol Hill on Wednesday, carrying a coffin to the FDA in a symbolic protest highlighting lives they say could be lost to regulatory delays affecting a group of rare ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

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 ...

Stoke Therapeutics is developing a drug designed to reduce seizures and restore some of their lost developmental function.

In Israel, approximately 50,000 children live with rare genetic diseases and syndromes, and thousands more are diagnosed each year. Nedirim, a non-profit organization founded by parents of children ...

Together, NORD and OpenEvidence aim to strengthen the connection between clinical knowledge and patient education, helping ...

Hosted by Becky Quick, CNBC will debut an in-depth, one-hour special, “CNBC Cures: Defying Rare Disease,” spotlighting the families dealing with rare diseases and the scientists, advocates, and ...

Although FDA Commissioner Marty Makary promised “an exciting treatment” for autism, what the agency delivered was a label ...

The Alliance was born from a classic D.C. moment: three Illinois advocates, standing in a hallway, waiting to meet with Senator Dick Durbin. That is where Wayne Galasek of Oak Park, Doug Butchart of ...