He died on March 1 from the rare genetic condition POLG Mitochondrial disease. His father shared the heartbreaking news in a message posted on the website of the POLG Foundation, ...

POLG mutations impair mitochondrial DNA replication and cause diverse mitochondrial diseases. Here, the authors show that structural differences in the POLγB subunit between humans and mice ...

The genetic disease harlequin ichthyosis affects the transport of fats within the skin, resulting in hard, scalelike plaques ...