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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 full-term after an uncomplicated pregnancy, labor, and delivery. At 4 months old, the participant was noted to have poor muscle control and low muscle tone. She began physical therapy at that time. The participant experienced delays in motor development and does not walk independently. The participant … read more

The participant was born at 39 weeks following a pregnancy complicated by severe nausea and vomiting (hyperemesis gravidarum). At birth, he made different breathing sounds, and his feet were flexed upwards, but no significant complications occurred while he was at the hospital. Once he came home, he had feeding issues … read more

During pregnancy, the participant was found to have poor growth (intrauterine growth restriction) and there was more amniotic fluid than normal (polyhydramnios). After birth, he had trouble breathing and low Apgar scores. He was found to have multiple skeletal anomalies (metaphyseal widening, tibial and fibular bowing, cervical spinal canal stenosis) … read more

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