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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


The participant was born via C-section at 38 weeks old. Shortly after birth, he had jaundice and twisting of the neck (torticollis). As a toddler, his speech and other developmental milestones were delayed. He also had frequent nosebleeds as a child. He developed chronic eczema at around 5 months old … read more

The participant was born early at 35 weeks and had feeding difficulties and breathing issues after birth. At 5 months, he was hospitalized for poor feeding and failure to thrive. At this time, he was also diagnosed with developmental delay. Two months later, he underwent G-tube placement to help with … read more

The participant was healthy and active until age 32 when he began to develop symptoms of acute kidney injury (thought to have been caused by medication) and migraines. He was found to have a decreased number of white cells called neutrophils (neutropenia) and poor regulation of his heart rate when … read more

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