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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 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 born early at 36 weeks. During the pregnancy, the participant’s mother had preeclampsia and gestational diabetes. After birth, the participant was found to have heart defects (atrial and ventricular septal defects), brain abnormalities (hydrocephalus, agenesis of the corpus callosum, porencephalic cyst and arachnoid cyst), and skull abnormalities … read more

The participant’s parents first became concerned with his development when he was 6 months old and not yet rolling. He eventually did roll over at 8 months and was walking at 26 months. He began babbling at 14 months, but is currently nonverbal. At 11 months, he started having seizures. … read more

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