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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


Early in life, the patient had trouble meeting her developmental milestones (global developmental delay). She struggled with speech (expressive and receptive language delay) and did not walk until age 3. At age 4, she started to have muscle weakness and spasms in her legs and arms (spastic paraparesis). She also … read more

The participant was born at term after an uncomplicated pregnancy and delivery. Shortly after birth he was noted to have low muscle tone (hypotonia) and feeding difficulties, and was treated with physical therapy. He began to have seizure episodes (generalized tonic-clonic) at 2 months old after developing a fever following … read more

At age 5, the participant was diagnosed with plaque psoriasis. At age 12, she was diagnosed with an uncommon and more aggressive form of psoriasis, called erythrodermic psoriasis. A few years later at age 18, she developed guttate and inverse psoriasis. She was also diagnosed with psoriatic arthritis at age … read more

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