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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 first had an episode of pneumonia at 6 months old. Over time, his episodes became more severe and by 6 years old he began coughing up thick, mucus molds of the inner lining of his bronchial tubes (bronchial casts). Evaluations showed extensive airway damage thought to be due … read more

CCDC40 & DNAH11

The patient was born early at 35 weeks. During the first few months of her life, she had multiple episodes of “turning blue” (cyanotic episodes) and was diagnosed with many upper respiratory and ear infections. She also had bronchitis and pneumonia several times. Around age 6, she started to complain … read more

This participant was born full-term after an uncomplicated pregnancy. He experienced some initial problems with grunting and wheezing (stridor), but he was able to go home on his second day of life.  He has had continued respiratory concerns, including weak cartilage in the walls of the larynx (laryngomalacia), aspiration, and … read more

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