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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


After a premature and complicated birth, the participant spent 3 weeks in the NICU recovering from breathing and feeding difficulties as well as sepsis. Early on, the participant had some difficulty with fine motor skills and speech delay. He learned to walk at 17 months, but his knees would hyperextend … read more

pontocerebellar hypoplasia, type 2D

At birth, the patient had low muscle tone (hypotonia) and poor head control. She was initially able to breast feed, but stopped at the age of 7 months. At 8 months, an MRI showed abnormal brain findings (cerebellar atrophy). She was admitted to the hospital at the age of 10 … read more

During the first few years of her life, the participant was developing as expected. She learned to walk at 11 months and talk at 12 months, and was described as a sweet, mature, well-behaved child who could sing entire songs and write complete sentences. Upon entering kindergarten, she succeeded academically, … read more

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