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

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 ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

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 ...

Researchers from Radboud University Medical Center and University of Basel have discovered new genetic causes of inherited blindness. Their study, published in Nature Genetics, shows that changes in ...

The team behind the Deciphering Developmental Disorders (DDD) Study, one of the world's largest nationwide rare disease genome-wide sequencing initiatives, have developed a novel computational ...

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 ...

Please provide your email address to receive an email when new articles are posted on . Children with five genetic causes of short stature had height velocity increases of 3 cm or more with vosoritide ...