"Her kidney wasn't working. Her liver's enlarged. She couldn't breathe on her own," her grandmother, Cindy Washington, said Wednesday. The newborn was diagnosed with an extremely rare disease known as ...

ST. LOUIS -- The scientist who discovered “Sly Syndrome” nearly four decades ago and a team of colleagues at Saint Louis University are a step closer to finding an approach to treat the rare genetic ...

Five years ago, Matthew Evangelista’s mother was convinced that he was on the brink of death. The then-11-year-old Queens boy had been diagnosed with an exceedingly rare degenerative disease called ...

ST. LOUIS -- Findings by a Saint Louis University research team led by the scientist who discovered Sly Syndrome 32 years ago point to a new direction for research into the rare genetic disorder that ...

NOVATO, Calif., Jan. 5, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced it has ...

Ultragenyx Pharmaceutical Inc. enrolled only 12 patients in the pivotal phase III study of its recombinant human beta-glucuronidase (rhGUS) candidate, also known as UX003, to treat ultra-rare ...

Skylar Rodriguez was born three months early on Nov. 22, 2017, and only given 24 hours to live. "Her kidney wasn't working. Her liver's enlarged. She couldn't breathe on her own," her grandmother, ...