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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


Shortly after birth, the participant started wheezing and was diagnosed with weak cartilage in the walls of the larynx and bronchial tubes (laryngomalacia and bronchomalacia). When he was a newborn, he had significant acid reflux (gastroesophageal reflux) and projectile vomiting. At 4 months, he was hospitalized for pneumonia. After he … read more

absolute iron deficiency anemia

At 20 months, the patient’s parents noticed that he was chewing and eating parts of his crib (pica). At this time, he was found to have low hemoglobin. He underwent an extensive workup, but the cause of his symptoms was not identified. Currently the patient receives iron supplementation to keep … read more

The participant was delivered by C-section because she was in breech presentation. After birth she spent one day in the Neonatal Intensive Care Unit (NICU) because of jaundice and trouble feeding. In the first few weeks of her life, her parents noticed that she had low muscle tone (hypotonia). She … read more

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