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

A recent study linking human pegivirus to Parkinson’s is leading scientists to examine the connection between other viral ...

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 ...

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.

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

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 ...

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.

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

Scientists use a precise form of gene editing called prime editing to correct the most common genetic mutations that cause ...

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 ...

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 ...

A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...