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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


The participant was born at 38 weeks after a complicated pregnancy involving preterm labor. There were no complications at the time of birth. At 8 weeks old, he was diagnosed with Shone Complex, a combination of several heart defects (coarctation of the aorta, bicuspid aortic valve, aortic valve stenosis, abnormal … 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

On prenatal ultrasound, the participant was found to have an increased measurement at the back of the neck (thickened nuchal fold), an abnormally bright spot on the bowel (echogenic bowel), and excess fluid in her kidneys. Although the pregnancy was classified as high risk due to these ultrasound findings, the … read more

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