Sometimes, a small error in the sequence of DNA can lead to a very serious disease. Scientists have identified many mutations that arise in a single gene to cause an ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

A single exposure to a toxic fungicide during pregnancy can increase the risk of disease for 20 subsequent generations—with inherited health problems worsening many generations after exposure. Those ...

Computational biologists have uncovered how RNA splicing -- a crucial process for isoform expression and protein diversity -- is regulated across different cell types in the peripheral blood. This ...

A genetics‑guided drug, compound 6, targets CARD9 to subtly calm gut inflammation in Crohn’s disease, pointing to safer, longer‑lasting, precision treatments.

Researchers at the University of Pittsburgh and KU Leuven have discovered a suite of genes that influence head shape in humans. These findings, published this week in Nature Communications, help ...

Company’s exhibit theater presentation will highlight multiomic and multimodal innovations in rare disease diagnostics ...