University of Utah Health researchers are participating in an effort to produce the world’s largest DNA mapping effort of children and their families.
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 around ...
In December 2020, Utah’s Newborn Screening Program identified the first patient with Guanidinoacetate methyltransferase (GAMT) deficiency solely through newborn screening. GAMT deficiency is an inherited condition that...
Highlighting investigators and their pioneering research programs, the Vitae program seeds new collaborations and development strategies by humanizing research through story.
In a new analysis, researchers at University of Utah Health’s Huntsman Mental Health Institute have detected more than 20 genes that could have a role in death by suicide.
The National Institutes of Health has awarded a trio of five-year grants totaling more than $12 million to a group of University of Utah Health scientists at the forefront of congenital heart disease (CHD) and arrhythmia...
More than 25 years in the making, scientific discoveries made by U of U Health chair of Neurology, Stefan Pulst, MD, Dr Med, have reached the milestone of entering human clinical trials with a unique treatment for amyotr...
The outlook looks promising for a Utah child receiving a new gene therapy for a lethal condition, spinal muscular atrophy.
In a new study, researchers at University of Utah Health recently detected how alterations in this gene could disrupt the formation and function of synapses in the hippocampus,
