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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 after a pregnancy complicated by low amniotic fluid levels. He was delivered via c-section due to decreasing fetal heart rate. After birth, he was noted to be healthy. Concerns regarding his development arose at 6 months of age from his daycare providers. He has since continued … read more

weakness, dizziness, & paralysis

The participant is a 34-year-old woman who developed episodic muscle weakness and pain beginning at age 9. Episodes are characterized by acute worsening of weakness, including paralysis, and last from hours to days. Triggers include physical exertion, fasting, illness, stress, and temperature extremes. Symptoms progressed significantly in early adulthood, leading … read more

The participant was delivered early at 31 weeks by emergency cesarean section (C-section) due to maternal preeclampsia. He spent the next eight weeks in the hospital due to feeding and breathing problems. At that time, he was diagnosed with profound bilateral hearing loss and had ear tubes (tympanostomy and pressure … read more

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