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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’s mother experienced a complicated full-term birth due to brow presentation (abnormal position during birth). However, the participant did not need to stay in the NICU and went home with her parents. Her parents first became concerned about her development at 6 weeks due to lack of head control … 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 was born prematurely at 31 weeks gestation. At birth, he was noted to have clubbed feet (bilateral talipes equinovarus) which were successfully cast. He received his nutrients through an NG (nasogastric) tube. He was discharged from the NICU after 6 weeks. At 3 months of age, the participant … read more

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