Olivier Vanakker, MD, PhD

Olivier Vannakker

Center for Medical Genetics
Ghent University Hospital, Belgium

Olivier Vanakker MD, PhD, is a paediatrician and clinical geneticist affiliated with the Connective Tissue Disorders team and the Dysmorphology team of the Center for Medical Genetics of the Ghent University Hospital, Belgium. He graduated Medical School in 2003 with great distinction. In 2009, he received the degree of Doctor in Medical Sciences for his thesis “Novel Clinical and Etiopathogenetic Findings in Pseudoxanthoma Elasticum.” Main topics involved optimization of molecular analysis in PXE and determination of genotype-phenotype correlations, identification of the PXE-like syndrome and study of the involvement of vitamin K and vitamin K-related mineralization inhibitors in the pathophysiology of ectopic calcification. This PhD thesis was awarded the annual Pfizer award for outstanding thesis in Medical Sciences at the Ghent University.

In 2010, he completed his training in Paediatrics. He is presently working at the Center for Medical Genetics of the Ghent University Hospital, where he is actively involved in the clinical follow-up of PXE families and various research projects focusing on the clinical, molecular and etiopathological characteristics of PXE and related disorders. In addition, he is specialized in paediatric genetics and dysmorphology.

Read an interview with Olivier from August 2011.


Areas of Interest

Genetics of PXE, PXE and the Metabolism, Clinical Manifestations, Epidemiology of PXE



Hosen MJ, Zubaer A, Thapa S, Khadka B, De Paepe A, Vanakker OM. Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter. PLoS One. 2014 Jul 25;9(7):e102779. Free article in PubMed. PMID: 25062064 

Hosen MJ, Coucke PJ, Le Saux O, De Paepe A, Vanakker OM. Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum. Orphanet J Rare Dis. 2014 Apr 29;9:66. Free article in PubMed. PMID: 24775865

Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AA, Hennekam RC. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. J Invest Dermatol. 2014 Apr 16. doi: 10.1038/jid.2014.191. [Epub ahead of print] PMID: 24739904

Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, Voet D, De Paepe A, De Backer T, De Backer J. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol. 2013 Nov;33(11):2646-52. PMID: 23968982

Vanakker OM. Coordinated orphan disease research: yes we can! Front Genet. 2013 Nov 1;4:207. Free article in PubMed. PMID: 24198824

Vanakker OM, Hosen MJ, Paepe AD. The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters? Front Genet. 2013 Oct 16;4:203. Free article in PubMed. PMID: 24137173

Hosen MJ, Vanakker OM, Willaert A, Huysseune A, Coucke P, De Paepe A. Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observations. Front Genet. 2013 May 8;4:74. Free PMC Article. PMID: 23760765

Tan MH, Vanakker OM, Tran HV, Robson AG, Lai-Cheong JE, Groves R, Holder GE, Moore AT. Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene. Eye (Lond). 2012 May;26(5):753-5. Free article in PubMed. PMID: 22261738

Hosen MJ, Lamoen A, De Paepe A, Vanakker OM. Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues. Scientifica (Cairo). 2012;2012:598262. Free article in PubMed. PMID: 24278718

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A. Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders? Am J Med Genet A. 2011 Nov;155A(11):2855-9. PMID: 21964806

Brampton C, Yamaguchi Y, Vanakker O, Van Laer L, Chen Lh, Thakore M, De Paepe A, Pomozi V, Szabó Pt, Martin L, Váradi A, Le Saux O. Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum. Cell Cycle. 2011 Jun 1;10(11):1810-20. Free article in PubMed. PMID: 21597330

Lefthériotis G, Vanakker O, Le Saux O, Martin L. Reply to the Article of C. Markello et al. entitled Vascular pathology of medial arterial calcifications in Nt5e deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab. 2011 Jun;103(2):199-200. PMID: 21497121

Bercovitch L, Martin L, Chassaing N, Heffron TW, Bessis D, Vanakker V, Terry SF. Acquired pseudoxanthoma elasticum presenting after liver transplantation. J Am Acad Dermatol. 2011 May;64(5):873-8. Lay summaryFree article in PubMed. PMID: 21397982

Vanakker OM, Hemelsoet D, De Paepe A. Hereditary connective tissue diseases in young adult stroke: A comprehensive synthesis. Stroke Res Treat. 2011 Jan:712903. Free article in PubMed. PMID: 21331163

O.M. Vanakker, L. Martin, L.J. Schurgers, D. Quaglino, C. Vermeer, I. Pasquali-Ronchetti, P.J. Coucke, A. De Paepe. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to GGCX mutations in the PXE-like syndrome. Lab Invest. 2010 Jun;90:895-905. Free article at Journal Website. PMID: 20368697

L.M. Costrop, O.M. Vanakker, L. Van Laer, O. Le Saux, L. Martin, N. Chassaing, D. Guerra, I. Pasquali-Ronchetti, P.J. Coucke, A. De Paepe. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. J Hum Genet. 2010;55:112-7. PMID: 20075945 

De Zaeytijd J, Vanakker OM, Coucke PJ, De Paepe A, De Laey JJ, Leroy BP. Added value of infrared, red-free and autofluorescence fundus imaging in sseudoxanthoma elasticum. Br J Ophthalmol. 2010 Apr;94:479-86. PMID: 19726431

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008 Jan;29(1):205. Free article at Journal Website. PMID: 18157818

Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation Detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007 Oct;44(10):621-8. Free article in PubMed, Patient Summary. PMID: 17617515

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6. Free article at Journal Website. PMID: 17724214

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol. 2007 Mar;127(3):581-7. Free article at Journal Website. PMID: 17110937

Vanakker OM, Voet D, Petrovic M, van Robaeys F, Leroy BP, Coucke P, de Paepe A. Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers. Br J Radiol. 2006 Mar;79(939):221-5. Free article at Journal Website. PMID: 16498034