Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

Scientists discovered that aging DNA repeats expand at wildly different speeds—and in some people, the consequences can be devastating. A sweeping genetic study drawing on data from more than 900,000 ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...

Researchers from Radboud University Medical Center and University of Basel have discovered new genetic causes of inherited ...

An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated ...

Researchers have uncovered shared genetic pathways that link multiple psychiatric disorders. These new findings have the potential to change the way psychiatric disorders are diagnosed and treated, ...

"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 ...

New research helps explain why disease-associated genetic variants can lead to variable clinical outcomes, influenced both by the patterns of secondary variants, or genetic background, and by how ...

Attention depends on the brain’s ability to filter out distractions, but new research suggests this works best when ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...