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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 healthy until age 15 when he had a surfing accident. This accident resulted in a brain injury and cervical spine fractures. A year after this accident, he began having seizures, but these resolved without treatment approximately a year later. When the participant was 44 years old, he … read more

The participant experienced early gross motor developmental delays. During her first two years of life, she had language delays and low muscle tone (hypotonia). She sat at 12 months and walked at 24 months. She began to experience severe epileptic encephalopathy starting at age 3. Specifically, the participant experiences multiple … read more

After intentionally losing a significant amount of weight at age 14, the participant began to experience back pain and was later hospitalized for generalized tissue swelling (anasarca) as well as high blood sugar levels. He was identified to have weak and brittle bones (osteoporosis), fractures of bones of the spine … read more

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