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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

ETFDH WRNIP1 PRDM16 PIK3CD MED13L BSN

Meet Our Participants


tall stature, occipital protuberance, atrial fibrillation

Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more

The participant was healthy until age 18. At this time, he was hospitalized for a severe rash on his hands, feet, and torso. He was suspected to have hand, foot, mouth disease. After this hospitalization and receiving the Gardasil shot, he continued to experience fatigue. At age 22, the participant … read more

At the age of 4, the participant started having breathing problems. Shortly after, she had a bluish color to the skin due to low blood oxygen levels (cyanosis). These symptoms were determined to be the result of interstitial lung disease, which led to mild high blood pressure in the lungs … read more

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