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Pediatric genetics

Simeon Boyd, M.D.

Dr. Boyd uses molecular biology techniques to study gene and environmental factors contributing to birth defects, such as nonsyndromic craniosynostosis, bladder epispadias-exstrophy complex, and cleft lip and/or palate. In addition, he has identified a new syndrome, Cranio-Lenticulo-Sutural dysplasia (CLSD) due to a mutation in SEC23A, a protein essential for endoplasmic reticulum to Golgi trafficking. He is now working on a transgenic Sec23a deficient mice that will allow him to analyze the secretory pathway in health and disease.