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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’s mother had an uncomplicated pregnancy with normal labor and delivery. He met all of his developmental benchmarks until he was 24 months, at which he began to plateau. At 26 months, the participant’s motor and speech skills began to regress, and he began to be less social. The … read more

The participant was born full-term after a pregnancy that was normal except for well-controlled gestational diabetes. His head was smaller than expected (fetal microcephaly) beginning at 30 weeks gestation. At birth, he was noted to be small in size and have corneal clouding, small corneas (microcornea), small eyes (microphthalmia), and … read more

The participant was delivered via c-section at 39 weeks 5/7 days gestation with a NICU stay of 9 days due to inhalation of amniotic fluid and meconium (meconium aspiration) and respiratory distress. The participant’s mother noted severe vomiting and nausea during pregnancy, but otherwise had normal fetal movements and prenatal … read more

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