The U.S. Food and Drug Administration said on Tuesday it has approved SpringWorks Therapeutics' drug to treat a type of rare ...

One in 10 Americans live with a rare disease, which often lacks effective treatments. Such is the case for PIGA-CDG, an ultra ...

In honor of Rare Disease Day on February 28, 2025, we will publish a series of posts throughout the month on As Prescribed ...

Tuesday, the agency signed off on SpringWorks’ Gomekli (mirdametinib) as a treatment for the rare genetic disorder ...

By Julie Parr Click here for updates on this story TEXARKANA, Texas (KTBS) — A Texarkana, Texas boy battling a rare genetic ...

Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual ...

Doctors told Nate and Mandy Baldry that something wasn’t quite right with their daughter, Cora Baldry, a month before she was born when their baby was measuring small and the amniotic fluid ...

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...

Gene editing is already being used to treat a handful of rare genetic diseases; however, most therapies involve breaking or ...

The FDA has made some modest efforts, but it needs an internal organization that understands and would be an aggressive ...

Jay and Pamela both have Osteogenesis Imperfecta Type 3, a condition that causes fragile bones. Both get around in motorized ...

Carissah Holland, an Owasso girl with MPS VI, underwent multiple surgeries and advocates for others while pursuing her dreams ...