A Beaverton family that has spent years searching for a replacement gene for their son’s rare genetic disorder says they are ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Shane DiGiovanna was born with epidermolysis bullosa, or EB, a condition he said is described as "the worst disease you’ve ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

A new study has brought scientists one step further in the direction of developing a cure for a brutal group of rare brain disorders known as SYNGAP1-related disorders, or SRDs. Researchers were able ...

"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 single one-time gene therapy could free patients with α-thalassemia, a rare and debilitating blood disorder, from the burden of lifelong transfusions. A single one-time gene therapy could free ...

Many psychiatric disorders are more biologically related than previously understood, having more genetic similarities than differences, a new study shows. More research is needed to understand how ...

In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed symptoms related to SYNGAP1-related disorders (SRD) in mice. These are a ...

If you haven’t heard of the genetic disorder Heterotaxy, a new children’s book released by a Connecticut teacher and her ...

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