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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 born prematurely at 27 weeks and experienced many complications early in life. He currently has seizures, low muscle tone (generalized hypotonia, facial hypotonia), and severe global developmental delay. These symptoms are not believed to be caused by his premature birth. The participant also has distinct facial features, … read more

The participant met all his developmental milestones on time until he was 16 months old. At that time, he lost his verbal skills (developmental regression) and was diagnosed with autism. He began to have seizures at the age of 6, which later became staring spells. He currently does not speak … read more

After the participant was born, he stayed in the hospital for a month because of breathing problems and no suck. He was very floppy and his development was delayed; he sat at the age of 3 and walked at the age of 8. He currently does not speak, but uses … read more

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