Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...
A review article led by researchers from the B·ARGO group at the Germans Trias i Pujol Research Institute (IGTP) and from the ...
When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. Mutations in the TREX1 gene are known to cause a rare and serious disease ...
Autism spectrum disorder, also known simply as autism or ASD, is a developmental disorder that can vary widely from one patient to another. It can affect how people behave, socialize, or communicate ...
The analysis revealed that about 2 per cent of sperm from men in their early 30s contained disease-causing mutations. That ...
Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...
Castle Biosciences, Inc. (Nasdaq: CSTL), a company improving health through innovative tests that guide patient care, today ...
A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...
The Centers for Disease Control and Prevention (CDC) warns that while the risk of human to human transmission remains low, experts and officials must be aware of the risk that mutations in the virus ...
—Do secondary mutations explain why patients with AML with a history of myelodysplasia-related changes and the NPM1 mutation have outcomes that are inferior to those in patients with normal ...