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

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

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

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

Scientists have created a complete map showing how hundreds of possible mutations in a key cancer gene influence tumor growth ...

Researchers have found that women who are diagnosed with breast cancer before the age of 55 and carry an inherited mutation in the breast cancer susceptibility genes BRCA1 or BRCA2 ...

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, ...

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these ...

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...