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 ...

Kerala sees a significant rise in newborn genetic defects. State assembly report highlights causes like advanced parental age ...

The genetic roots of a disease or disorder do not always grow into clear-cut, easily diagnosed clinical features. Even if a ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

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 ...

In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed ...

"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 ...

After two children passed from a rare genetic disease, New Orleans mom Missy Ward wrote a memoir from the perspective of her ...

Scientists introduced CRISPR to the world as a gene-editing tool in summer 2012, when landmark papers from two independent groups demonstrated how the system could be wielded to make cuts in DNA. Now, ...