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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 found to have limited joint movement (arthrogryposis) prenatally. She has required surgery to restore more flexibility to some of her joints.  She currently has contractures at her shoulders, elbows and hips. She also has deviated fingers and toes, small thumbs, and rocker bottom feet (bilateral vertical talus). … read more

The participant was born full-term through a C-section. Shortly after returning home from the hospital, he began having gastrointestinal-related issues. He was diagnosed with reflux (GERD) and had difficulty with feeding, though these issues were resolved with the use of a specialty baby formula. The participant also had regular constipation … read more

The participant’s mother had an uncomplicated pregnancy with normal labor and delivery. He met all of his developmental benchmarks until he was 24 months, at which he began to plateau. At 26 months, the participant’s motor and speech skills began to regress, and he began to be less social. The … read more

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