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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 spent the first 19 days after birth in the neonatal intensive care unit (NICU) because of respiratory distress, feeding issues, low muscle tone (hypotonia) and slow heart rate (bradycardia). She was also found to have a heart defect (atrial septal defect). An initial MRI showed almost complete lack … read more

The participant experienced early developmental delays. She crawled and sat independently at 9 months and had a vocabulary of 3 words by 12-15 months. However, she lost her language skills after her seizures began at 14-15 months. Her generalized tonic-colonic seizures occur about once a week in addition to more … read more

The participant was born at 38 weeks after a complicated pregnancy involving preterm labor. There were no complications at the time of birth. At 8 weeks old, he was diagnosed with Shone Complex, a combination of several heart defects (coarctation of the aorta, bicuspid aortic valve, aortic valve stenosis, abnormal … read more

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