Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...

Natera NTRA announced the commercial launch of Zenith genomics, a next-generation whole genome sequencing assay designed to ...

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 ...

Scientists have pinpointed genetic changes that can leave children born with little to no immune defense against infection. In a new study of 11 affected individuals, researchers from Newcastle ...

At the genomic level, the researchers identified over 100 regions of the genome where genetic variants influence multiple disorders simultaneously. One region on chromosome 11 stood out as a "hotspot, ...

"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 ...

Rare diseases are hard to diagnose and often require costly genetic testing and visits to specialists. The testing can be hard to access, especially for people who live in rural areas. Researchers at ...