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

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

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

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

The mum and dad of a baby with a genetic disease so rare it has no name have vowed to keep fighting for him after the ...

Biomedical engineers at Duke University have demonstrated a promising new approach that could be used to treat a rare and ...

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

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

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

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