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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 with multiple heart abnormalities (coarctation of the aorta, bicuspid aortic valve, ventricular septal defect) and was diagnosed with Wolff-Parkinson-White syndrome at 5 months old. Also at 5 months old, he was diagnosed with acute lymphoblastic leukemia (ALL) and was treated with chemotherapy, total body irradiation, and … read more

At age 2, the participant started to have frequent falls and difficulty getting up from the ground after falling. Her parents started to notice that her muscles would tighten and that she would walk with an abnormal gait (toe-walking). Although the participant said her first word at age 2, she … read more

The participant’s parents became concerned with his development when he was about 3-4 years old. At this time, his speech was delayed and he was learning a bit slower than other children in school. He was able to graduate from high school, but had difficulty with college level work. Otherwise … read more

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