An integrin mutation impairs skin T cell migration, enabling HPV proliferation that causes warts and lesions in a rare genetic dermatological condition.

Koalas’ population comeback may be doing more than boosting numbers—it could also be rebuilding their lost genetic diversity.

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

In August 2018, immunologist Carola Vinuesa was working in her office at the Australian National University (ANU) when she received an unexpected call from David Wallace, a former student. He wanted ...

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

Matthew Farrer has US patents associated with LRRK2 mutations and associated mouse models (8409809 and 8455243), and methods of treating neurodegenerative disease (20110092565). He has previously ...

Chorea-acanthocytosis is a rare genetic disorder of the nervous system. It causes involuntary jerks and twitches in the muscles, known as chorea, and star-shaped red blood cells, known as ...