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

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

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.

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

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

Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth. The study focused on CTNNB1, a gene that produces the protein β-catenin, ...

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

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 ...

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

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