In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly. The complex, a type of "protein chaperone" known as TRiC, helps ...

Two critical mutations appeared roughly 200,000 years ago in a gene linked to language, then swept through the population at roughly the same time anatomically modern humans began to dominate the ...

The IQSEC2 gene encodes a guanine nucleotide exchange factor (Arf-GEF) that plays a critical role in synaptic regulation and neuronal development. Mutations in IQSEC2 have emerged as a significant ...

Schizophrenia is thought to affect 1 in 300 people, or about 0.32 percent of the global population, and treatment options are limited because of a poor understanding of the mechanisms underlying the ...

In a recent study published in Genome Biology, researchers investigate the impact of a novel loss-of-function mutation in the oxidation resistance 1 (OXR1) gene on cellular functions, neurodevelopment ...

Psoriasis is a chronic inflammatory immune-mediated disease that causes patches of skin to become flaky or sore. The current cause of the condition is unknown and it is estimated that 125 million ...

The order of cancer-driving mutations—genetic changes—plays an important role in whether tumors in the intestine can develop, new research reveals. These are the findings published on 3 December in ...

Due in part to information featured in previous blog posts, I’ve received several e-mails recently from individuals interested in learning more about genome-guided therapeutics for NF. The UAB NF ...

If you’ve met one person with autism, the saying goes, you’ve met one person with autism. This popular quote attributed to autism expert Dr. Stephen Shore captures a truth that has long challenged ...

Things are getting KRASy in Spanish science this week as two major papers debut new insight regarding the activity of the cancer-associated mutation KRAS. First, in an article published in Nature, a ...