Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and developmental delays. Although some symptoms overlap among these rare ...

In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...

Researchers found a way to screen cancer-linked gene mutations much more easily and quickly than existing approaches, using a variant of CRISPR genome-editing known as prime editing. Tumors can carry ...

Mapping diverse mutations within a cancer hotspot revealed that distinct variants drive tumor growth to different extents, which could guide anticancer therapies.

Researchers at Gladstone Institutes have discovered that a rare genetic variant known as the "Christchurch mutation" can block detrimental effects of apolipoprotein E4, the best-established risk ...

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

Researchers in the RIKEN Center for Brain Science (CBS) examined the genetics of autism spectrum disorder (ASD) by analyzing mutations in the genomes of individuals and their families. They discovered ...

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