In the Department of Genetics, doctors are using genetic and genomic testing to pinpoint the exact cause of a patient’s condition—even when symptoms mimic more than one disorder. This clarity is ...

A global revolution in genetic sequencing is helping University of Otago scientists solve the mysteries of ultra-rare disorders, for one family at a time. It’s called the diagnostic odyssey: an ...

Did you know that a simple genetic test called DNA testing is all that is needed to understand if you are at risk of ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means. Now, researchers at the Icahn School of Medicine at Mount Sinai ...

Researchers have developed a technique that can identify errors caused by mutations linked to a range of genetic disorders, including forms of muscular dystrophy, Huntington's disease and amyotrophic ...

University of Otago–Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children.

A Texas family is racing to raise $3 million to develop a one-of-a-kind treatment for their baby, who has an ultra-rare ...

Everett Blomstrom was born prematurely at 31 weeks and spent 143 days in the hospital when doctors diagnosed him with the ...