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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


The participant began to experience tremors at 4 months and concerns were raised for global developmental delay when she failed to meet developmental milestones. Early in life, she had episodic fevers, frequently requiring hospitalization, and staring spells thought to be seizures (absence seizures). After evaluation by neurology, she had an … read more

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 4 months old, the participant had an episode of extremely high blood pressure (malignant hypertension), which required resuscitation and intubation. He underwent an extensive workup, but a diagnosis was not found. Since then, he has had four other hospitalizations due to high blood pressure. His systolic blood pressures have … read more

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