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 ...

"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 ...

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 ...

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.

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 ...

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

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 ...

Almost 20 years ago, James Randerson ordered a sequence of smallpox DNA. Smallpox is the only human disease to have ever been successfully eradicated — 46 years ago as of yesterday. It’s one of the ...

Figure 1. ANKLE1 senses mechanical tension in DNA and helps resolve DNA bridges connecting separating daughter nuclei. ANKLE1 (green) localises to the midbody (red) during cell division. In cells ...

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