Summary: Researchers have uncovered a surprising mechanism by which a single genetic mutation in the BCL11B gene causes both immune dysfunction and brain development issues. Instead of merely ...

It was not until she turned one in 2021 that she was officially diagnosed with PIK3CA-Related Overgrowth Spectrum (Pros), which is a group of conditions caused by a gene mutation that affects one ...

This enabled the researchers to identify the cause of the novel disorder as mutations in RNU2-2, a gene once thought to be inactive. The authors also identified a separate mutation in RNU2-2 that ...

I am a Certified Public Accountant and run a 10 person technology and financial management consulting firm. I speak 50+ times per year to business groups on technology, the economy, public policy ...

42.5 x 34.9 cm. (16.7 x 13.7 in.) ...

This would allow us to target every mutation for a disease with a single gene editing construct." STITCHR harnesses the power of enzymes from genetic elements called retrotransposons, which are ...

It is the first pivotal trial of a mutation-agnostic RP gene therapy and the only study to show a 0.3 or better LogMAR improvement in retinal degenerative disease, according to Nanoscope.

Background Surgical management of colon cancer for patients with Lynch syndrome who carry a mismatch repair (MMR) gene mutation is controversial. The decision to remove more or less of the colon ...

Sanger sequencing identified a previously reported missense mutation (c 0.425C > T: p.P142L) and a novel nonsense mutation in the UROS gene (c 0.325A > T: p.K109*). Bioinformatic analysis indicated ...