ResearchPediatric genetics research
Faculty
Simeon Boyd, M.D., Ph.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 resulting from a mutation in SEC23A, a protein essential for endoplasmic reticulum to Golgi trafficking.
Jinoh Kim, Ph.D.
Dr. Kim's research focuses on protein trafficking within the cell by using biochemical and cell biological approaches; abnormal protein trafficking can be the cause of many human diseases.
Billur Moghaddam, M.D.
Dr. Moghaddam's research interests focus on inborn errors of metabolism, lysosomal storage disorders, and phenuylketonuria.
