Fragile X disorders include two distinct conditions: fragile X syndrome (the most common single-gene cause of developmental ...

A Reddit user said ChatGPT identified a rare gene mutation after doctors failed to diagnose symptoms for over 10 years.

Scientists identify a specific gene variant that doubles dementia risk in older men, suggesting the potential for targeted ...

The discoveries were possible as a result of the creation of Human Domainome 1, a huge library of protein variants. The catalogue includes more than half a million mutations across 522 human ...

By the time they are a few months old, infants born with alternating hemiplegia of childhood (AHC) begin experiencing ...

Without this specific mutation in the non-catalytic domain, the enzyme retains its normal function. The next step would be to determine what is the 3D conformation in mutant SKD3 that causes MGCA7 ...

Gene mutation discovered that causes language impairment, ADHD and myasthenia. ScienceDaily. Retrieved June 2, 2025 from www.sciencedaily.com / releases / 2022 / 09 / 220922103132.htm.

Medically reviewed by Jeffrey S. Lander, MD ATTR-CM is an acronym for the medical condition called transthyretin amyloid cardiomyopathy. There are two causes of ATTR-CM, an inherited gene mutation and ...

From radiation exposure to trauma and injury, here are a few causes of sarcoma cancer that develops in the connective tissues of the body.

But now there might be hope. Researchers used a mouse model to identify a mutation in a gene known as IKBKB that causes a group of immune cells called regulatory T-cells to misfire.

OCTOBER 10, 2024, NEW YORK – A Ludwig Cancer Research study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome—one that ...

For 30 years, researchers have known that Huntington's is caused by an inherited mutation in the Huntingtin (HTT) gene, but they didn't know how the mutation causes brain cell death.