Pediatrics - Medicine
Offices and Labs
M.I.N.D. Institute, #2284
|0||MD||Medical Genetics, Pediatrics|
Congenital anomalies are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths, yet the causes of about 70% of all birth defects are still unknown. My lab is involved in studies of craniofacial genetic syndromes and structural birth defects, such as craniosynostosis, bladder epispadias-exstrophy complex, and cleft lip and/or palate. Our ultimate goal is to identify genes and environmental factors contributing to the risk of these birth defects. Through the International Craniosynostosis Consortium we have recruited and evaluation more than 800 families with craniosynostosis. We have performed genome-wide association studies and identified BMP2 and BBS9 as craniosynostosis candidate genes (Justice et al 2012). Using whole exome sequencing we recently identified autosomal recessive mutations in a gene causing complex craniosynostosis. The current focus of my laboratory is to characterize the role of these genes by using molecular genetics, cell biology, and animal models approaches.
2000-2002 Vice President elect of the Society of Craniofacial Genetics
2002-2004 President elect of the Society of Craniofacial Genetics
Department and Center Affiliations
Department of Pediatrics, Chief of Section of Genetics
M.I.N.D. Institute faculty
Department of Urology, the Johns Hopkins University, Adjunct Associate Professor of Urology
American Academy of Pediatrics - member
American Society of Human Genetics - member
European Society of Human Genetics - member
American Society for Cell Biology -member
Society of Craniofacial Genetics, past President, member
CBS Grad Group Affiliations
Integrated Genetics and Genomics
Graduate Groups not Housed in CBS
Autism Research Training Program
M.I.N.D. Institute Wet lab Building website
Vijaya Ramachandran, Ph.D., Postdoctoral Fellow; Bonnie Ching, Ph.D. student -Genetics Graduate Group; Christopher Nauta, Research Assistant and Lab Manager; Erica Goude, Research Assistant; Serena Chan, undergraduate researcher; Jialie Liu, undergraduate researcher
Medical genetics, molecular dysmorphology, analysis of complex traits in humans
OB 420 Human Genetics (Fall)
5/21/2010 9:26:34 AM
Fromme JC, Ravazzola M, Hamamoto S, Al-Balwi M, Eyaid W, Boyadjiev SA, Cosson P, Schekman R, Orci L. The genetic basis of a craniofacial disease provides insight into COPII coat assembly. Dev Cell (in press), 2007.
Boyadiev SA, Fromme JC, Nauta C, Hur DJ, Zhang G, Schekman R, Orci L, Eyaid W. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal ER-to-Golgi trafficking. Nat Genet 38(10):1192-1197, 2006.
Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. A Novel Dysmorphic Syndrome with Open Calvarial Sutures and Sutural Cataracts Maps to Chromosome 14q13-q21. Hum Genet 113:1-9, 2003.
Boyadjiev SA for the International Craniosynostosis Consortium. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofacial Res 10(3):129-137, 2007.
Boyadjiev SA, South ST, Radford CL, Patel A, Zhang H, Hur D, Thomas GH, Gearhart GP, Stetten G. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Genomics 85(5):622-629, 2005.
Boyadjiev SA, Dodson JL Radford .L, Ashrafi GH, Beaty TH, Mathews RI, Broman KW, Gearhart J.P. Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. Brit J Urology International 94:1337-1343, 2004.
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia. Am J Hum Genet 72:408-418, 2003.
Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptacek LJ 2nd, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics 58(1): 34-40, 1999.