Beth A. Kozel, M.D., Ph.D.

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Associate Professor, Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093

Clinical Interests

Dr. Beth Kozel is a clinical geneticist and a Lasker Clinical Research Scholar. She directs the Laboratory of Vascular and Matrix Genetics at the National Heart, Lung and Blood Institute at the National Institutes of Health. She is also the director of the Williams syndrome clinic at Washington University School of Medicine/St. Louis Children’s Hospital. At the NIH, her emphasis is on understanding the genetic underpinnings of rare vascular diseases, especially those caused by connective tissue defects.
With extensive experience in vascular and matrix biology as well as genetics, Dr. Kozel focuses her work on the study of elastin-mediated arteriopathy in mice and humans. Work by her group has contributed to greater understanding of the process of elastic fiber assembly as well as the mechanism by which elastin insufficiency causes arterial stiffness. Current efforts include identification of genes/pathways that modify the impact of elastin insufficiency on blood vessels and harnessing those pathways to design rational treatments for individuals with those diseases.


  • BA, Summa Cum Laude, Washington University in St. Louis1996
  • MD, Washington University School of Medicine2004
  • PhD, Washington University School of Medicine2004


  • Resident, St. Louis Children's Hospital2004 - 2007
  • Resident (Fellow), Washington University School of Medicine2007 - 2009

Licensure and Board Certification

  • 2007 - PresAmerican Board of Pediatrics
  • 2007 - PresMO, Unrestricted Medical License
  • 2009 - PresAmerican Board of Medical Genetics

Honors and Awards

  • Teresa Vietti Fellowship Award2010
  • Co-Chair for the 2011 Gordon-Kenan Research Seminar, Elastin and Elastic Fibers2010 - 2011
  • NIH K12 Scholar 1K12 (HL089968)2010 - 2011
  • Scholar of the Child Health Research Center of Excellence in Developmental Biology at Washington University School of Medicine2011 - 2013
  • NIH K08 Recipient 1K08 (HL109076)2011 - 2016
  • Children's Discovery Institute Faculty Scholar2011 - 2016
  • Lasker Clinical Research Scholar2015 - Pres
  • Williams Syndrome Association Heart to Heart Award2015

Recent Publications view all (32)

Publication Co-Authors

  1. Elastin-driven genetic diseases. Matrix Biol. 2018;71-72:144-160. PMID:29501665 
  2. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. Mol Genet Genomic Med. 2018;6(5):749-765. PMCID:PMC6160704  PMID:30008175 
  3. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. J Pediatr Hematol Oncol. 2018. PMID:30028825 
  4. Minoxidil improves vascular compliance, restores cerebral blood flow, and alters extracellular matrix gene expression in a model of chronic vascular stiffness. Am J Physiol Heart Circ Physiol. 2018;315(1):H18-H32. PMCID:PMC6087770  PMID:29498532 
  5. Novel retinal findings in peroxisomal biogenesis disorders. Ophthalmic Genet. 2018;39(3):377-379. PMID:29377746 
  6. Williams-Beuren syndrome in diverse populations. Am J Med Genet A. 2018;176(5):1128-1136. PMCID:PMC6007881  PMID:29681090 
  7. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017;19(9):1040-1048. PMCID:PMC5581723  PMID:28252636 
  8. Effects of Obesity and Hypertension on Pulse Wave Velocity in Children. J Clin Hypertens (Greenwich). 2017;19(3):221-226. PMID:27511880 
  9. Hypercalcemia in Patients with Williams-Beuren Syndrome. J Pediatr. 2016;178:254-260.e4. PMCID:PMC5085847  PMID:27574996 
  10. KATP channel gain-of-function leads to increased myocardial L-type Ca2+ current and contractility in Cantu syndrome. Proc Natl Acad Sci U S A. 2016;113(24):6773-8. PMCID:PMC4914204  PMID:27247394 
  11. Chronic antihypertensive treatment improves pulse pressure but not large artery mechanics in a mouse model of congenital vascular stiffness. Am J Physiol Heart Circ Physiol. 2015;309(5):H1008-16. PMCID:PMC4591401  PMID:26232234 
  12. Biomechanical properties of the skin in cutis laxa. J Invest Dermatol. 2014;134(11):2836-8. doi:10.1038/jid.2014.224  PMCID:PMC4199921  PMID:24844858 
  13. Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism. J Mol Genet Med. 2014;8(3). doi:10.4172/1747-0862.1000129  PMCID:PMC4497575  PMID:26167199 
  14. Skin findings in Williams syndrome. Am J Med Genet A. 2014;164A(9):2217-25. doi:10.1002/ajmg.a.36628  PMCID:PMC4134746  PMID:24920525 
  15. Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23]. Eur J Hum Genet. 2014;22(9). doi:10.1038/ejhg.2014.28  PMCID:PMC4135419  PMID:24569604 
  16. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Mol Genet Genomic Med. 2014;2(2):115-23. doi:10.1002/mgg3.48  PMCID:PMC3960053  PMID:24689074 
  17. Altered reactivity of resistance vasculature contributes to hypertension in elastin insufficiency. Am J Physiol Heart Circ Physiol. 2014;306(5):H654-66. PMCID:PMC3949062  PMID:24414067 
  18. Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1. Hypertension. 2014;63(1):74-9. PMCID:PMC3932371  PMID:24126171 
  19. Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clin Genet. 2013;84(5):473-81. doi:10.1111/cge.12202  PMCID:PMC3985344  PMID:23701296 
  20. Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem. 2012;287(26):22055-67. doi:10.1074/jbc.M111.327940  PMCID:PMC3381164  PMID:22573328 
  21. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012;20(2):176-9. doi:10.1038/ejhg.2011.171  PMCID:PMC3260920  PMID:21934713 
  22. Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation. J Biol Chem. 2011;286(52):44926-36. doi:10.1074/jbc.M111.274779  PMCID:PMC3248007  PMID:22049077 
  23. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet. 2011;130(4):495-504. doi:10.1007/s00439-011-0968-y  PMCID:PMC3178759  PMID:21340693 
  24. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47(5):332-41. doi:10.1136/jmg.2009.073015  PMCID:PMC3158566  PMID:19914906 
  25. Distinct clinical and histopathological presentations of Danon cardiomyopathy in young women. J Am Coll Cardiol. 2010;55(4):408-10. PMID:20117447 
  26. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46(5):308-14. PMID:19188198 
  27. Elastic fiber formation: a dynamic view of extracellular matrix assembly using timer reporters. J Cell Physiol. 2006;207(1):87-96. doi:10.1002/jcp.20546  PMID:16261592 
  28. Elastic fiber macro-assembly is a hierarchical, cell motion-mediated process. J Cell Physiol. 2006;207(1):97-106. doi:10.1002/jcp.20573  PMID:16331676 
  29. Tropoelastin interacts with cell-surface glycosaminoglycans via its COOH-terminal domain. J Biol Chem. 2005;280(49):40939-47. doi:10.1074/jbc.M507309200  PMID:16192266 
  30. Deposition of tropoelastin into the extracellular matrix requires a competent elastic fiber scaffold but not live cells. Matrix Biol. 2004;23(1):23-34. doi:10.1016/j.matbio.2004.02.004  PMID:15172035 
  31. Domains in tropoelastin that mediate elastin deposition in vitro and in vivo. J Biol Chem. 2003;278(20):18491-8. doi:10.1074/jbc.M212715200  PMID:12626514 
  32. A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus. Genomics. 1997;39(1):55-65. doi:10.1006/geno.1996.4466  PMID:9027486 
Last updated: 10/22/2018
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