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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


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

The patient began experiencing muscle weakness and tiredness around 9 years old. He was found to have problems with coordination (ataxia), drooping eyelids (ptosis), and rapid, uncontrolled eye movements (nystagmus). A brain MRI showed moderate atrophy of his cerebellum. His symptoms have progressed quickly and he now requires the use … read more

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

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