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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 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

At a young age, the participant began experiencing chronic constipation and vertigo. His vertigo often included lightheadedness, dizziness, blurred vision and ringing in his ears (tinnitus) when he would move from sitting to standing. He was also found to have small and non-reactive pinpoint pupils. At age 39, the participant’s … read more

Shortly after birth, the participant started wheezing and was diagnosed with weak cartilage in the walls of the larynx and bronchial tubes (laryngomalacia and bronchomalacia). When he was a newborn, he had significant acid reflux (gastroesophageal reflux) and projectile vomiting. At 4 months, he was hospitalized for pneumonia. After he … read more

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