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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 was delivered via C-section after an uncomplicated twin pregnancy and was healthy at birth. She was slow to begin breast-feeding compared to her twin brother. She was notably irritable and “floppy” due to low muscle tone (hypotonia) and had difficulty gaining weight as a newborn. At 5 months … read more

The participant was born at full-term after a pregnancy complicated by maternal hypertension and gestational diabetes. During the first few days of life, the participant was noted to have jaundice, a heart murmur, and a heart defect known as a ventricular septal defect (VSD). At 6 months of age, he … read more

The participant’s first infection occurred when she was a newborn. At this time, she had an infection in the umbilical cord area, which required hospitalization. Since then, she has had a long history of recurrent infections, including viral (shingles), fungal (onychomycosis), and bacterial (bronchopulmonary) infections. As a child, she had … read more

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