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Our Current Research

Model Organisms

The Model Organisms Screening Center (MOSC) for the UDN is a collaborative center with investigators from Baylor College of Medicine and University of Oregon. The MOSC allows for world-renowned experts in Drosophila (fruit fly) and Zebrafish genetics and biology to tackle undiagnosed diseases.

Publications

Genes of interest

SMARCC2 HGSNAT GNAS SEPSECS TRA2B MGA

Meet Our Participants


At 10 months of age, the participant was found to have low muscle tone (hypotonia) and developmental delay. He said his first words at 9 months and has added vocabulary slowly over the years. According to his speech therapist, he has a diagnosis of dysarthria. He began walking at 28 … read more

Before the participant was born, he was found to have heart problems (borderline hypoplastic left heart variant, coarctation of the aorta) on an ultrasound. At birth, he had severe heart failure and was started on oxygen. He spent three weeks in the neonatal intensive care unit (NICU). At this time … read more

hypotonia, seizures

After the patient was born, he had trouble breathing and was admitted to the NICU.  He also had an abnormal neck position (torticollis) and difficulty eating (failure to thrive). At 6 months, he was not meeting his developmental milestones. In particular, his motor skills were behind. When the patient was … read more

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