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 ...

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 ...

A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying associated traits and symptoms—can identify these conditions earlier and more ...

With a shared purpose, we can realize the true promise of CRISPR and improve healthcare, providing hope to more patients with ultra-rare genetic disorders.

KJ Muldoon wasn’t supposed to make it to his first birthday. He was born in August 2024 with carbamoyl phosphate synthetase 1 deficiency, a genetic disorder that afflicts about 1 in 1.3 million ...

— The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, ...

Despite widespread misconceptions, eating disorders aren’t a choice, they’re serious, potentially life-threatening conditions. While social and environmental factors do influence someone’s risk of ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

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 ...