Researchers at the Greenwood Genetic Center (GGC) led the discovery of an unexpected connection between inherited blindness ...

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 ...

A new study highlights how a more diverse pangenome could help reduce misleading genetic findings and improve the future of preventive medicine.

Scientists have identified thousands of genetic differences that change a person's risk of disease, but working out how they ...

A new heritability-optimized scoring method called RovHer identifies the rare missense variants that explain the most genetic ...

If you’ve been told you have your mother’s chin or your father’s eyes, you can thank your genes — the biological instruction manual passed down from each parent. But tiny “typos,” or genetic mutations ...

As a young doctor at a pediatric hospital in Shanghai, Yong-Hui Jiang, MD, PhD, looked into the faces of parents and saw desperation. Working in a clinic for children born with Down syndrome and ...

Health care added 372,000 jobs in a year, about 75% of U.S. job growth, a Peterson-KFF brief finds, while September hiring in the sector slowed. Head and neck cancer survivor Michael Caputo joins the ...

A new genetics-based framework systematically flags potential safety risks for inflammatory bowel disease drug targets before ...

Researchers at Cornell University identified the BC200 gene, which originated from a transposon in human DNA. This gene displays unusual mobility, retaining its ability to move within the genome while ...