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

A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

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

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

Researchers from the HUN-REN Szeged Biological Research Centre and HCEMM have just published a new study suggesting that it's ...

One of the most important developments in breast cancer, especially for people with hormone receptor-positive (HR+) advanced ...

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

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

Chinese researchers have unveiled a crucial mutation in the Ebola virus that significantly enhanced its infectivity during a ...

The study, published in Genomic Psychiatry, reveals that an inherited change in the brain can completely block the function of the trace amine-associated receptor 1 (TAAR1), a receptor targeted by ...