A recent research finding adds to evidence that brain inflammation is a major driver of neurodegenerative disorders such as ...

These rods cause a person's red blood cells to take on a deformed, sickle-like shape, thus giving the disease its name ... Cystic fibrosis Chromosomal mutation Inversion One region of a chromosome ...

A rare gene mutation that delays Alzheimer's disease does so by damping inflammatory signaling in brain-resident immune cells ...

Using gene editing in a preclinical model, researchers at UT Southwestern Medical Center blocked the symptoms of a rare smooth muscle disease before they developed. Their findings, published in ...

Parkinson's disease researchers say they have discovered a genetic mutation in a small protein that could produce new treatments for the debilitating brain disorder. Chinnapong - stock.adobe.com ...

But sometimes mutations can offer protection against diseases. A case in point is a mutation discovered in humans in 2012 that reduces the risk of developing Alzheimer's disease.

The paisa mutation is named after people from the Antioquia region of Colombia and is one of the most common genetic causes of early-onset Alzheimer’s disease.

Huntington’s disease is a rare genetic disorder affecting movement, memory, and mood. Here’s what we know—and what’s ahead.

The team developed a high-throughput imaging platform to assess the influence of nearly 3,500 mutations on protein location.

The man should have gotten Alzheimer’s disease in his early 40s — he had a gene mutation that guaranteed it, or so it seemed. Scans of his brain even revealed severe atrophying and the ...

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 ...

Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subunit (ABCA4) gene, ...