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.

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 ...

Researchers have released TripletDGC, a publicly available resource that links nearly 10,000 disease-associated genes to the specific cell types they most strongly affect, filling a critical gap in ...

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

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 ...

Today's biomedical researchers are relentlessly searching for genes that drive disease, with the goal of creating therapies that target those genes to restore health. When a single gene is the culprit ...

Neurodegeneration often progresses silently before diagnosis and is influenced by a variety of systemic variables other than the brain, such as cardiovascular failure, chronic inflammation, oxidative ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...

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