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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 has had trouble walking her entire life.  As a child, she used foot braces and started using a cane when she was 35. In her 40s, she started having arm weakness as well. Currently she has numbness and sharp burning pain in her hands and feet. She is … 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

The participant was born at 37 weeks by spontaneous vaginal delivery. He failed his newborn hearing screen twice but passed a third screen at 5 weeks of age. Following his birth, the participant had a weak cry, was not visually tracking, and did not wake up well. He was admitted … read more

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