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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 noted to have a brain abnormality (agenesis of the corpus callosum) on a fetal ultrasound. Further testing during the pregnancy was positive for mosaic Turner syndrome. At two days old, the participant began experiencing diarrhea. At 5 weeks old, she was admitted to the hospital for severe … read more

The participant first developed symptoms at age 26, though it is possible that there were some symptoms earlier in her life as well. During a period of intense stress, she suddenly had difficulty speaking (dysarthria), muscle weakness, difficulty walking, poor coordination and muscle spasms. At this time, she also developed … read more

Early in life, the participant met most developmental milestones, although he began walking at 18 months. Most of his symptoms did not appear until age 35 when he started to experience memory loss, dizziness, and slurred speech (dysarthria). A few years later, the participant began to have balance difficulties (ataxia), … read more

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