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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 was born via C-section at 38 weeks old. Shortly after birth, he had jaundice and twisting of the neck (torticollis). As a toddler, his speech and other developmental milestones were delayed. He also had frequent nosebleeds as a child. He developed chronic eczema at around 5 months old … 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

From birth, the participant had difficulties feeding due to aspirations, requiring a G-tube from 3 months old until age 4. During infancy and early childhood, he was noted to have weak cartilage in the bronchial tubes (bronchomalacia) but this has since improved. The participant experiences frequent ear and sinus infections … read more

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