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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


The participant was born at full-term after a pregnancy complicated by maternal hypertension and gestational diabetes. During the first few days of life, the participant was noted to have jaundice, a heart murmur, and a heart defect known as a ventricular septal defect (VSD). At 6 months of age, he … read more

At approximately 1-2 months of age, the participant showed signs of slow growth and was diagnosed with developmental delay as well as low muscle tone (muscular hypotonia). The participant has since been identified to have absent speech, moderate intellectual disability, and uncoordinated walking (gait ataxia). He was recently  identified to … read more

The participant’s parents first noticed that the participant was not meeting her developmental milestones at 9 months. At 11 months, she started having seizures (infantile spasms). An MRI at 11 months was normal; however, she had an abnormal EEG (hypsarrhythmia) that was consistent with epileptic encephalopathy. Despite medications, her seizures … read more

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