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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

WRNIP1 PRDM16 PIK3CD MED13L BSN MED14

Meet Our Participants


The participant was born after a normal pregnancy and cesarean section delivery. She spent 9 days in the neonatal intensive care unit after birth because of difficulty feeding and respiratory issues. An x-ray found that her lungs were dilated and she was placed on CPAP. At that time, it was … read more

Cataracts

As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but … read more

The participant was delivered via C-section due to breech presentation after an uncomplicated pregnancy. She was noted to have low muscle tone (hypotonia) as an infant, and she had gross motor delay. She began crawling at 11 ½ months.  She began walking at approximately 1.5 to 2 years of age … read more

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