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.

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

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

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

Maureen Sideris, seated, with her sister Marion, receiving the 8th of 9 immunotherapy infusions during successful treatment for early-stage gastroesophageal junction cancer at Memorial Sloan Kettering ...

A mutation that causes resistance to pyrethroid insecticides—used in mosquito bed nets—was identified in the Anopheles gambiae mosquito.

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 ...

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