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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

WRNIP1 PRDM16 PIK3CD MED13L BSN MED14

Meet Our Participants


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

At 7 months old, the participant had his first seizure. He started taking phenobarbital and did not have additional seizures until age 5. While weaning off of phenobarbital at age 5-6, the participant began experiencing lower extremity pain and uncontrollable movements. He restarted phenobarbital; however, his symptoms continued to progress. … read more

The participant’s seizures were first noticed when he was 2 days old. However, they may have started during the pregnancy since some movements were noticed in utero. These seizures were described as small jerking motions. He spent 5 days in the NICU and was discharged with seizure medication. He was … read more

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