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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


progressive muscle weakness

At the age of 8, the patient started having difficulty climbing at school. She was unable to pull herself onto a horse or get into the car. She also walked differently than other children due to a waddling walk and would run as if she had “lead in her shoes”. … read more

During pregnancy, the mother of the participant developed a kidney infection that was treated with antibiotics and painkillers. Ultrasounds revealed that the participant’s legs were hyperextended at the knee, his feet were by his face, and his arms were to the side. After birth, he had trouble feeding and was … read more

After a premature and complicated birth, the participant spent 3 weeks in the NICU recovering from breathing and feeding difficulties as well as sepsis. Early on, the participant had some difficulty with fine motor skills and speech delay. He learned to walk at 17 months, but his knees would hyperextend … read more

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