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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

PRDM16 PIK3CD MED13L BSN MED14 MARS1

Meet Our Participants


The participant was healthy and developing normally until age 3. At this time, his parents noticed that he was walking with a waddling gait. Since then, the participant has had difficulty climbing stairs, running, and getting up from a squatted position (Gowers sign). He also has an irregular heartbeat (arrhythmia) … read more

The participant was delivered via c-section at 39 weeks 5/7 days gestation with a NICU stay of 9 days due to inhalation of amniotic fluid and meconium (meconium aspiration) and respiratory distress. The participant’s mother noted severe vomiting and nausea during pregnancy, but otherwise had normal fetal movements and prenatal … read more

At 6 months of age, the participant’s parents noticed she was not rolling over or reaching or playing with toys. They also noticed abnormal eye movements. She was eventually diagnosed with nystagmus and oculomotor apraxia. At 15 months, the participant experienced her first seizure when she had a fever (simple … read more

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