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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 term after an uncomplicated pregnancy and delivery. Shortly after birth he was noted to have low muscle tone (hypotonia) and feeding difficulties, and was treated with physical therapy. He began to have seizure episodes (generalized tonic-clonic) at 2 months old after developing a fever following … read more

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

Early on in life, the participant had a gastrostomy tube (G tube) placed because she was not growing as expected. Around this time, she was diagnosed with anemia and a high white blood cell count (leukocytosis). Currently she is very short and has pain in her knees and ankles. She … read more

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