Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

What is the human exposome? A massive study quantifying 115,000 associations shows that cumulative environmental exposures rival genetics in predicting disease.

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a ...

Genetic risk in mental illness is not equal, with some disorders highly distinct and others sharing broad inherited vulnerability.

Genetic risk for inflammatory bowel disease could also help identify which patients will have a more severe disease trajectory.An evaluation of more than 8,000 Danish individuals with IBD found those ...

Prof. Dr. Nguyen Huy Hoang, Deputy Director of the Institute of Biology under the Vietnam Academy of Science and Technology, ...

"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 ...

Understand genetic kidney diseases, their early warning signs, family risk factors, and when dialysis or transplant may be ...

Researchers have demonstrated a new class of low-cost, scalable sensors that can be used to monitor electrical activity in ...

Every few months for the past three years, Jeff Vierstra has been receiving infusions in his spine that target and disable a ...

The target set for the PaREnthood Genetic DIsease Carrier Test (PREDICT) programme was too ambitious and it – as well as the ...