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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 spent the first 19 days after birth in the neonatal intensive care unit (NICU) because of respiratory distress, feeding issues, low muscle tone (hypotonia) and slow heart rate (bradycardia). She was also found to have a heart defect (atrial septal defect). An initial MRI showed almost complete lack … read more

26 weeks into the pregnancy, the participant was found to have intrauterine growth restriction (IUGR). She was born early at 34 weeks weighing 3 pounds and was fed through a G-tube as an infant. As she has grown up, she continues to be very small for her age and gaining … read more

The participant had difficulties rolling over and sitting at 6 months old. He started physical therapy at 9 months after not reaching additional developmental milestones. Around the same time, he was diagnosed with nystagmus, an eye abnormality in which the eyes repetitively move horizontally. The participant developed “staring spells” and … read more

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