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.
Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...
Chinese researchers have unveiled a crucial mutation in the Ebola virus that significantly enhanced its infectivity during a major outbreak, providing new insights for epidemic surveillance and drug ...
Study results indicate that mutation strength may shape both tumor–immune system interactions and immunotherapy response.
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 ...
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, ...
Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...