Prof Michael DOUBEK

Contact Information

Prof Michael Doubek
Central European Institute of Technology, Masaryk University, Brno; University Hospital Brno
Address: University Hospital Brno, Jihlavska 20, 62500 Brno, Czechia

Tel:     +420532232144

Current research interests

My current research interest is focused mainly on the genetics of inherited bone marrow failure syndromes and leukemia. I am specifically interested in the identification of genetics of chronic cytopenias and predispositions to leukemia, and the recognition of malignant evolution based on genome analyses. 

Clinical Expertise related to EuNet-INNOCHRON

Clinical Haematology and Clinical Genetics with special experience in patients with bone marrow failure syndromes, and chronic and acute leukemia. 

Laboratory Epertise related to EuNet-INNOCHRON

  • Flow cytometry of PB and BM
  • Real-time PCR, next-generation sequencing
  • Whole exome sequencing

Recent publications related to Eunet-INNOCHRON

  • Trizuljak J, Kozubík KS, Radová L, Pešová M, Pál K, Réblová K, Stehlíková O, Smejkal P, Zavřelová J, Pacejka M, Mayer J, Pospíšilová Š, Doubek M.  A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. Platelets. 2018 Dec;29(8):827-833. 
  • Staňo Kozubík K, Radová L, Pešová M, Réblová K, Trizuljak J, Plevová K, Fiamoli V, Gumulec J, Urbánková H, Szotkowski T, Mayer J, Pospíšilová Š, Doubek M. C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. Int J Hematol. 2018 Dec;108(6):652-657.
  • Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016 Nov;101(11):1333-1342. 
  • Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015 May;47(5):535-538.