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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

ETFDH WRNIP1 PRDM16 PIK3CD MED13L BSN

Meet Our Participants


hypotonia, seizures

After the patient was born, he had trouble breathing and was admitted to the NICU.  He also had an abnormal neck position (torticollis) and difficulty eating (failure to thrive). At 6 months, he was not meeting his developmental milestones. In particular, his motor skills were behind. When the patient was … read more

cholecystitis, weakness, memory impairment

At age 45, the patient started to have pain in her abdomen. She was found to have an aneurysm in the blood vessel that supplies blood to the spleen (splenic artery aneurysm) and underwent surgery. At this time, she was also found to have inflammation in her gallbladder (cholecystitis), which … read more

The participant had difficulties rolling over and sitting at 6 months old. He started physical therapy at 9 months after not reaching additional developmental milestones. Around the same time, he was diagnosed with nystagmus, an eye abnormality in which the eyes repetitively move horizontally. The participant developed “staring spells” and … read more

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