Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The mutation, located in a gene called ...

Flinders University researchers have discovered a rare genetic mutation that could explain why some people do not respond to ...

Scientists have discovered how a mitochondrial mutation rewires immune function in a model of inherited primary mitochondrial disorders, which often lead to severe disability and death. They have ...

UCSF Benioff Children’s Hospital Oakland is enrolling patients in an innovative clinical trial that seeks to cure sickle cell disease. The trial is the first in the U.S. to apply non-viral CRISPR-Cas9 ...

Australian researchers say they have identified a gene mutation that causes the skin disease psoriasis. A chronic inflammatory condition, psoriasis causes red, scaly, itchy patches on the skin. Some ...

A genetic mutation commonly found in cancer patients may also affect how the human body develops in the womb, according to new research from the University of Dundee. Professor Kim Dale, Principal ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...

Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in California due to a trio of respiratory illnesses, including a new mutation of the common flu that ...

Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in Illinois due to a trio of respiratory illnesses that typically rise this time of year, as well as a new ...