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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


At birth, the participant was noticed to have a small head (microcephaly), overlapping fingers, cleft palate, increased muscle tone (hypertonia), rocker bottom feet, abnormal creases on her hands, long and slender fingers, partially dislocated hips (bilateral hip subluxations), and joint contractures. At the age of 3, she had a muscle … read more

The participant was born preterm at 31 weeks with low birth weight. The pregnancy was complicated by twins, liver disease (cholestasis), and kidney stones. The participant’s twin had multiple birth differences and passed away at 5 months old in the NICU. The participant stayed in the NICU for 41 days … read more

overgrowth

When the patient was 20 months old, her mother noticed that she was large for her age. Since then, her height and weight have continued to increase despite regular physical activity and a healthy diet (overgrowth). At age 8, she started to have signs of increased androgen secretion (premature adrenarche) … read more

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