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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


The participant was born at full term via a scheduled c-section due to his mother’s history of Hodgkin’s Lymphoma. He was transferred to the NICU due to poor feeding, vomiting, and a heart murmur. His parents also noted that he had a high-pitched cry. At 4 days old an echocardiogram … read more

GNAS

After birth, the patient was found to be in respiratory distress. He had low levels of red blood cells (anemia), yellowing of the skin (jaundice caused by hyperbilirubinemia), and heartburn (gastroesophageal reflux). This required hospitalization in the NICU for 72 days. Over time, the patient was noticed to have delayed … 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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