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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 born full term after an uncomplicated pregnancy and birth. Prenatal ultrasounds had raised suspicion of Down syndrome but he was ultimately not diagnosed. At 2 months the participant began to experience difficulty breathing (obstructive and central apnea) and required supplemental oxygen. He underwent surgery to remove his … read more

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 participant was born at 38 weeks by C-section. The pregnancy was complicated by vaginal bleeding at 6-8 weeks and gestational diabetes. At birth he needed supplemental oxygen for a couple days because his of low oxygen and vomiting while nursing (emesis). At 6 days old, he had jaundice which … read more

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