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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


At six weeks of age, the participant was noticed to have a twisted neck (torticollis) and skull abnormality (plagiocephaly). These were treated with physical and helmet therapy. Soon after, she was diagnosed with low muscle tone (hypotonia) and developmental delay. When the participant was one year old, she received a … read more

Before the participant was born, he was found to have heart problems (borderline hypoplastic left heart variant, coarctation of the aorta) on an ultrasound. At birth, he had severe heart failure and was started on oxygen. He spent three weeks in the neonatal intensive care unit (NICU). At this time … read more

The participant was born at 39 weeks gestation after an uncomplicated pregnancy. Shortly after birth, he was evaluated for feeding difficulties requiring an NG tube which was difficult to pass. Approximately 1 month after birth, a referral to ENT was made after noting heavy, loud breathing. A CAT scan observed … read more

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