video

Our Current Research

Model Organisms

The Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN) is composed of two Centers that use fruit fly (Drosophila melanogaster), nematode worm (Caenorhabditis elegans) and zebrafish (Danio rerio) genetics and biology to tackle rare and undiagnosed diseases.

Genes of interest

WRNIP1 PRDM16 PIK3CD MED13L BSN MED14

Meet Our Participants


Prior to age 25, the participant was healthy and was living on her own with a job after graduating from college with a degree in political science. First, the participant started having severe OCD symptoms. The participant was prescribed a low dose of an antidepressant, which seemed to stabilize her … read more

The participant was born after an uncomplicated pregnancy, however, she had difficulty breathing after birth. She was also found to have a heart murmur and heart abnormalities (hypoplastic left heart syndrome, mitral stenosis, mitral regurgitation, aortic insufficiency, endocardial fibroelastosis). Due to poor ventricular function, she could not have surgery and … read more

The participant was healthy and active until age 32 when he began to develop symptoms of acute kidney injury (thought to have been caused by medication) and migraines. He was found to have a decreased number of white cells called neutrophils (neutropenia) and poor regulation of his heart rate when … read more

Top