Key people
Prof. Ing. Stanislav Kmoch, CSc.
For First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague; head of the research program Development of Diagnostic and Therapeutic Procedures at BIOCEV and head of Research Unit for Rare Diseases, First Faculty of Medicine and General University Hospital. His main focus lies in the study of genetic, molecular, cellular and pathologic causes of rare and complex diseases.
Prof. MUDr. Milan Macek, DrSc., MHA
For Second Faculty of Medicine, Charles University in Prague and University Hospital Motol; chairman of the largest academic medical/molecular genetics institution in the Czech Republic - Department of Biology and Medical Genetics; ÚBLG. He is also the past President of the European Society of Human Genetics (ESHG.org; 2011), past-board member of the European Cystic Fibrosis Society (ECFS.eu; 2007-2015 and of the European Society for Human Reproduction and Embryology (ESHRE.eu; 2012-2014). He also serves at the Commission Expert Group on Rare Diseases (formerly EUCERD.eu). ÚBLG was designated by the Czech Ministry of Health as a National Coordination centre for rare diseases (Bulletin 4/2012) which serves as a "clearing centre" for the dissemination of knowledge in rare disease-related genomics gathered within various international / European projects such as CF Thematic Network, EuroGentest, EuroCareCF, Techgene.eu, RD-connect.eu, Norway Grants or EU ESF funds. His main research and clinical interest is genomics of rare diseases, and how to translate such knowledge to clinical diagnostics and/or bedside. Prof. Macek is also the Czech National coordinator of Orpha.net and member of the Diagnostic Committee of the International Rare Disease Consortium (IRDIRC.org).
Prof. RNDr. Šárka Pospíšilová, Ph.D.
For Masaryk University and University Hospital Brno; research groupleader of Medical Genomics, coordinator of Molecular Medicine program at CEITEC, and head of Centre of molecular biology and gene therapy of University Hospital Brno. Research projects focus primarily on study of p53 signalling pathway and other molecular markers of hemato-oncological diseases, mutational and functional analyses of immunoglobulin genes and microRNAs in lymphoproliferative disorders. The laboratory is also intensively on application of genomic approaches in diagnostics of hematologic and oncologic diseases (leukemias, lymphomas, breast cancer and other malignancies) in postnatal but also in prenatal and pre-implantation diagnostics.
prim. MUDr. Ivan Šubrt, Ph.D.
For the Faculty of Medicine in Pilsen, Charles University Prague and the University Hospital in Pilsen; head of the Department of Medical Genetics and of the research group Medical Genomics. Research projects are focused mainly on the study of molecular markers of disorders of human reproduction, susceptibility to infectious diseases, oncogenesis and on the utilization of genomic technologiesfor diagnosis of rare genetic diseases.
Assoc. Prof. Marian Hajduch, MD, Ph.D.
Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc. Director of the Institute of Molecular and Translational Medicine, head of the research program Chemical biology and experimental therapeutics. Research projects are focused on research into the molecular biology of cancer in particular, on research and development of new drugs and diagnostic methods and translational medicine.