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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 was born at 39 weeks gestation and was treated in the NICU for 6 days due to low oxygen levels (hypoxia) caused by significant nasal congestion and airway obstruction. The participant’s motor delay was first noticed around 4-6 months old. At 8 months, he was noted to have … 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 had reflux and some difficulty feeding after birth. Around 4 months old, his parents noticed that he was having difficulty meeting some of his developmental milestones. He had poor visual tracking, vocalization, and socialization. He has made slow but consistent progress since then and is now able to … read more

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