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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 development was typical until the age of three when she experienced sudden regression and lost her ability to speak. She has a history of abnormal brain activity (abnormal EEG) but has not had seizures. She received a diagnosis of Landau-Kleffner syndrome at age 3. She has significant difficulty … read more

developmental delay, seizures

At 3 months, the patient began having seizures (generalized tonic and complex partial seizures), which was confirmed by EEG. A head CT at this time was normal. An MRI at 7 months showed a small head size (microcephaly) and underdeveloped nerve fibers joining the hemispheres of the brain (hypoplasia of … 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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