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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

infantile spasms

The patient was born early at 37 weeks and was found to have bruised eyes and bleeding in the space between his scalp and skull (subgaleal hematoma). At two days old, he was sent to the NICU for low blood sugar (hypoglycemia), but was released after two days. Over time, … read more

From birth, the participant had difficulties feeding due to aspirations, requiring a G-tube from 3 months old until age 4. During infancy and early childhood, he was noted to have weak cartilage in the bronchial tubes (bronchomalacia) but this has since improved. The participant experiences frequent ear and sinus infections … read more

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