A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function ...

Our parents' genes, even the ones we didn't inherit, leave a measurable lasting imprint on our lives. An international team ...

When a child develops kidney failure or a rare bone disorder, the cause can seem painfully immediate. It may be a single broken gene, a sudden diagnosis, or a family searching for answers.

Researchers relied on a newer gene-editing technique that may make it possible to engineer embryos, a prospect that has long ...

A review article now published in Nature Reviews Genetics brings together evolutionary theory, comparative genomics and large ...

The initiative, supported by FAPESP, aims to map genes associated with rare hereditary diseases to create “risk calculators” based on the diversity of the Brazilian population.

A study by researchers at The Jackson Laboratory (JAX), the Broad Institute, and Yale University has identified how specific genetic changes function in cells to influence disease risk and other human ...

"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 ...

An evolutionary blueprint of the molecular machines inside the 1.8 billion year old single-celled ancestor of all complex ...