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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

PRDM16 PIK3CD MED13L BSN MED14 MARS1

Meet Our Participants


At age 5, the participant was diagnosed with plaque psoriasis. At age 12, she was diagnosed with an uncommon and more aggressive form of psoriasis, called erythrodermic psoriasis. A few years later at age 18, she developed guttate and inverse psoriasis. She was also diagnosed with psoriatic arthritis at age … read more

At 6 months of age, the participant’s parents noticed she was not rolling over or reaching or playing with toys. They also noticed abnormal eye movements. She was eventually diagnosed with nystagmus and oculomotor apraxia. At 15 months, the participant experienced her first seizure when she had a fever (simple … read more

This participant was born full-term after an uncomplicated pregnancy. He experienced some initial problems with grunting and wheezing (stridor), but he was able to go home on his second day of life.  He has had continued respiratory concerns, including weak cartilage in the walls of the larynx (laryngomalacia), aspiration, and … read more

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