video

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 and birth. Prenatal ultrasounds had raised suspicion of Down syndrome but he was ultimately not diagnosed. At 2 months the participant began to experience difficulty breathing (obstructive and central apnea) and required supplemental oxygen. He underwent surgery to remove his … read more

The participant was born at 39 weeks gestation and was treated in the NICU for 6 days due to low oxygen levels (hypoxia) caused by significant nasal congestion and airway obstruction. The participant’s motor delay was first noticed around 4-6 months old. At 8 months, he was noted to have … read more

The participant was noted to have a brain abnormality (agenesis of the corpus callosum) on a fetal ultrasound. Further testing during the pregnancy was positive for mosaic Turner syndrome. At two days old, the participant began experiencing diarrhea. At 5 weeks old, she was admitted to the hospital for severe … read more

Top