News: rare disease

University of Utah Health has been designated as a Rare Disease Center for Excellence by the National Organization for Rare Disorders (NORD).

In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. Although his life was cut short, his legacy will benefit children...

Janice Hanson's journey, which began with the birth of her first child 57 years earlier, culminated with the discovery of a rare genetic mutation responsible for the constellation of symptoms...

A University of Utah-led initiative to help people with rare and untreatable diseases was highlighted by the White House at the Precision Medicine Initiative Summit today. Patient Empowered Precision Medicine...

Not so rare: 1 in 10 Utahns is affected by a rare or undiagnosed disease.