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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.

Publications

Genes of interest

PDE2A COG5 COG1 ADGRV1 LMNA PUM2

Meet Our Participants


26 weeks into the pregnancy, the participant was found to have intrauterine growth restriction (IUGR). She was born early at 34 weeks weighing 3 pounds and was fed through a G-tube as an infant. As she has grown up, she continues to be very small for her age and gaining … read more

tall stature, occipital protuberance, atrial fibrillation

Starting in early childhood, the participant experienced chronic diarrhea with excess fat in his stool (steatorrhea), fragile and sagging skin (cutis laxa), and poor wound healing. At 11 years old, a heart murmur was detected. Later in life, the participant was diagnosed with atrial fibrillation and heart muscle disease (cardiomyopathy). … read more

The patient began experiencing muscle weakness and tiredness around 9 years old. He was found to have problems with coordination (ataxia), drooping eyelids (ptosis), and rapid, uncontrolled eye movements (nystagmus). A brain MRI showed moderate atrophy of his cerebellum. His symptoms have progressed quickly and he now requires the use … read more

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