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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

WRNIP1 PRDM16 PIK3CD MED13L BSN MED14

Meet Our Participants


At age 44, the participant developed a severe rash on her face, neck and inner elbows. She had UV light treatment which caused the rash to spread to the bottom of the chin and the chest. The rash is described as warm red patches that are not itchy or flaky. … read more

The patient has multiple chronic medical problems including esophagus damage (achalasia), low cortisol, an inability to produce tears (alacrimia), severe pain with urination, delayed gastric emptying (gastroparesis), autonomic nervous system dysfunction (dysautonomia), increased heart rate (supraventricular tachycardia), and bipolar affective disorder. The patient also recently transitioned from female to male … read more

The participant was healthy with no medical concerns until the age 5. Around this time, his mother noticed that his right foot was turned in. Over time, his started to become rigid and he lost his ability to walk by the age of 10. He also had unusual movements in … read more

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