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

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 ...

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

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...

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

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

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 ...