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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


The participant was born full-term after an uncomplicated pregnancy, labor, and delivery. At 4 months old, the participant was noted to have poor muscle control and low muscle tone. She began physical therapy at that time. The participant experienced delays in motor development and does not walk independently. The participant … read more

Early in life the participant had typical development, but held a pen in a unique way and ran with his fingers and hands outstretched. At age 21, he began to speak in a whisper. This difficulty speaking (dysphonia) progressed for 1-2 years, but later stabilized. At age 29, the participant … read more

cholecystitis, weakness, memory impairment

At age 45, the patient started to have pain in her abdomen. She was found to have an aneurysm in the blood vessel that supplies blood to the spleen (splenic artery aneurysm) and underwent surgery. At this time, she was also found to have inflammation in her gallbladder (cholecystitis), which … read more

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