Shane DiGiovanna was born with epidermolysis bullosa, or EB, a condition he described as “often called the worst disease ...

DANVILLE, Pa. – A “genomic-first” approach to screening for rare genetic disorders —identifying specific genetic variants and then studying associated traits and symptoms — can identify these ...

Prenatal genetic testing has existed since the 1970s. In the 1990s, non-invasive testing became available, and significant scientific gains were made. Now, doctors can screen for hundreds of genetic ...

"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 ...

For too long, the promise of personalized therapies has been tantalizingly close, yet frustratingly out of reach for ...

Genome editing-based therapies typically aim to treat disease by correcting underlying genetic mutations in patient's cells.

The Human Domainome 1—the largest library of human protein variants—reveals the cause of certain genetic disorders, paving the way for personalized medicines. “We measured every possible mutation in ...

A 19-year-old Canadian man becomes the first human cured through prime gene editing after doctors corrected a rare genetic ...

New research has identified previously unknown genetic links to autism spectrum disorder (ASD), providing new insights into the genetic underpinnings of the condition. New research published in The ...

A new method for safely inserting large chunks of DNA into genomes has now measured up in mice, potentially paving the way ...