Boyadjiev, Simeon, M.D.

Assistant Professor, Department of Pediatrics
M.D., Pediatric Medical Institute of St. Petersburg, Russia 1985

Main Interests:

I am interested in the genetic epidemiology of isolated birth defects.
My lab is involved in studies of non-syndromic craniosynostosis, oral clefts and, more recently, the epispadias-exstrophy complex. Using case-parent trios with these conditions, we perform SNP based association studies on groups of candidate genes. The goal is to identify the genes causing these congenital defects. I am also interested in the clinical and molecular characterization of craniosynostosis syndromes and the identification of genetic and non-genetic factors responsible for their clinical variability. I have been involved in the positional cloning of the gene causing Oculodentodigital dysplasia. I narrowed and characterized the candidate gene region and excluded several genes as possible candidates. As a clinical dysmorphologist, I am interested in the delineation of new dysmorphic syndromes. I participated in the characterization of a previously undescribed syndrome with craniosynostosis, anal anomalies and porokeratosis -- CAP syndrome. We also identified a new syndrome with congenital cataracts, facial dysmorphism and late closing fontanels in a large, inbred family and proved linkage to chromosome 14q13.

Research Interests:

• Clinical and molecular dysmorphology
• Genes causing congenital defects
• Genetic analysis of multifactorial diseases
• Genetic epidemiology
• Links:

Center for Craniofacial Development and Disorders (CCDD)

Dr. Simeon Boyd's Research Group Web Site

Clinical Activities:

• Board Certification: American Board of Pediatrics - 1997 American Board of Human Genetics, Clinical Genetics - 1999
• Clinical Interests: clinical dysmorphology; congenital anomalies - craniosynostosis, oral clefts, exstrophy-epispadias complex; delineation of new syndromes
• Clinic:

Medical Genetics Clinic
Johns Hopkins Outpatient Center (JHOC)
8th floor, Pediatric Specialty Clinics area
601 North Caroline Street
Baltimore, MD 21205
Phone: 410-955-3071 Fax: 410-614-9246

Educational Activities:

• Preceptor, Medical Genetics Training Program
• Preceptor of undergraduate students interested in Human Genetics
• Courses taught - Clinical Skills Course; Molecular mechanisms of disease; Pediatric Trends
• Medical Genetics (Genetic Medicine) Clinical Residency Program and Genetic Subspecialty Postdoctoral Fellowships

Recognition and Leadership Roles:

• Vice-President of the Society of Craniofacial Genetics - 2000-present

Publications:

• Boyadjiev SA, Chowdry AB, Shapiro RE, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW: Physical map of the Chromosome 22q region containing the Oculodentodigital dysplasia locus: Analysis of twelve candidate genes and identification of novel cDNAs and SNPs. Mammalian Genome (2001), submitted.
  
  
• Boyadjiev SA, Sahota A, Tischfield JA: Identification of polymorphic markers flanking the human APRT gene. Adv Exp Med Biol 370: 653-656, 1994. Abstract
   
  
• Boyadjiev SA, Sahota A, Tischfield JA: Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene. Hum Mutat 8: 214-215, 1996. Abstract
  
  
• Nance MA, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR: Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease . Neurology 47: 1933-1935 , 1996. Abstract
  
  
• Gupta PK, Sahota A, Boyadjiev SA, Bye S, Chao C, O'Neill P, Hunter TC, Albertini RJ, Stambrook PJ, Tischfield JA: High frequency in vivo loss of heterozygosity is primary a consequence of mitotic recombination. Cancer Res 57: 1188-93, 1997. Abstract
   
  
  
  
• Flanegan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT: Familial craniosynostosis, anal anomalies and porokeratosis - CAP syndrome. J Med Genet 35: 763-766, 1998. Abstract
  
  
• 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. Abstract
  
  
• Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE: A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 64(6): 1580-93, 1999.  Abstract
  
• Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AOM., and Jabs EW: Paternal origin of FGFR2 mutations in sporadic cases of Crouzon and Pfeiffer syndromes. Am J Hum Genet, 66(3):768-77, 2000. Abstract
• Prophanphoj V, Boyadjiev SA, Waber LJ, Brusilow SW, Geraghty MT: Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia. J Inherit Metab Dis, 23(2):129-36, 2000. Abstract
  

Contact Information:

Simeon Boyadjiev, M.D.

Johns Hopkins University School of Medicine Institute of Genetic Medicine
733 N Broadway
Broadway Research Building, 469
Baltimore, MD 21287

Phone: (410) 955-4160
Fax: (410) 614-9246
E-Mail: sboyd@mail.jhmi.edu