Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of ...

Human cells usually contain two copies of most genes, one of which comes from the mother while the other comes from the father. It's long been thought that usually these two copies, or alleles of ...

Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding ...

An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease. This breakthrough, detailed in a new ...

Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing ...

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, ...

Discover how the artificial intelligence model popEVE ranks mutations in human proteins, transforming diagnoses in genetic disease.

Northeastern University researchers used an original machine learning tool to predict how genetic mutations cause a rare metabolic disease known as OTC deficiency, uncovering some underlying ...

Scientists have discovered how a mitochondrial mutation rewires immune function in a model of inherited primary mitochondrial ...

WASHINGTON -- Exposure to air pollution from steel mills may cause genetic mutations that are passed by fathers to their offspring, according to a study in mice. Ecology scientists at McMaster ...