Familial Hypobetalipoproteinemia (FHBL), caused by variants in the apolipoprotein B (APOB) gene, is a rare autosomal co-dominant monogenic disorder characterized by lifelong low plasma levels of total ...

A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating ...

Huntington's disease is caused by an inherited genetic change that causes production of an altered protein. This leads to nerve damage in areas of the brain that control movement and thinking.