The DNA of Chernobyl cleanup workers showed mutations caused by radiation that were also evident in the genes of their ...

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

Researchers have created the first complete map showing how hundreds of mutations in a key cancer gene affect tumor growth.

A hallmark of Parkinson's disease is the buildup of Lewy bodies—misfolded clumps of the protein known as alpha-synuclein.

Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth ...

A new study published in Nature Genetics reveals that not all cancer-associated mutations in the same gene behave alike. Led ...

Mapping diverse mutations within a cancer hotspot revealed that distinct variants drive tumor growth to different extents, which could guide anticancer therapies.

Study results indicate that mutation strength may shape both tumor–immune system interactions and immunotherapy response.

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these ...

In mantle cell lymphoma (MCL), an aggressive form of B-cell non-Hodgkin lymphoma, TP53 mutations are known to affect patients’ prognosis—but questions remain. What does the heterogeneity of TP53 ...