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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


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

At 17 months old, the participant began to have seizures (infantile spasms). At their worst, she was having seizures >50 times daily. The participant was treated with many different combinations of seizure medications and underwent a trial of ketogenic diet. At 2 years old she was still having seizures multiple … read more

The participant experienced early developmental delays. She crawled and sat independently at 9 months and had a vocabulary of 3 words by 12-15 months. However, she lost her language skills after her seizures began at 14-15 months. Her generalized tonic-colonic seizures occur about once a week in addition to more … read more

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