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Ìð¹ÏÊÓƵ of Utah Ìð¹ÏÊÓƵ 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 Ìð¹ÏÊÓƵren...

Janice Hanson's journey, which began with the birth of her first Ìð¹ÏÊÓƵ 57 years earlier, culminated with the discovery of a rare genetic mutation responsible for the constellation of symptoms...

A Ìð¹ÏÊÓƵ 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.