CURRENT POSITION: Head of the Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol (DBMG)
1980-1986 Faculty of Pediatrics, Charles University, graduation with “Magna cum Laude” with “Rector´s Distinction” for the “Best Student of the Class of 1986” (M.D); 1986-1993 pediatric residency (Praha/Liberec); 2004 professorship (medical/molecular genetics); from 2006 Head of DBMG; 2012 head of National coordinating center for rare diseases
1989-1992 1st int. postdoc fellowship- Inst. of Human Genet., Humboldt University, Berlin; X-XII/1991 research fellow at Harvard Sch. Medicine, Department of Pediatrics, Boston, USA; V/1992-VI/1995 2. intl. postdoctoral fellowship- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; 2010- President of the European Society of Human Genetics (ESHG), 2007-2014 Board member European Cystic Fibrosis Society (ESHG), 2012-2015 – Board member European Society for Human Reproduction and Embryology (ESHRE); 201č-2017 – member of the Diagnostic Committee of the International Rare Disease Research Consortium, Expert evaluator/monitor/panel vice-chairman Research Executive Agency – European Commisison.
1991 The Annual Czech Medical Society of J.E. Purkyne Prize (cystic fibrosis research); 1995 The Award of the Ministry of Health of the Czech Republi (medical genetics); 1996 The Charles University / I st School of Medicine Top 10 Award for participation in international research initiatives; 1997 Czech Ministry of Health Annual Award (medical / molecular genetics); 2003 The Annual Award of the Czech Society of Medical Genetics – best publication; 2015 Izakovic Memorial Prize for achievements in genetics, Bratislava, Slovakia; 2016 proponent of the King Faisal International Prize in Medicine
European Commission: FP5- coinvestigator of projects: CRMGEN, CF Thematic Network, CF Chip, COGENE a Copernicus 2 (project coordination), EMQN, Marie Curie Training Site (Molecular Genetics of Cystic Fibrosis); FP6: Snip2Chip, Micro2DNA, Eurogentest, Population Biobanks – Phoebe, EuroCareCF; FP7:,, /Advisory Board for Eurorenomics/, RD-Portal, Eurogentest; Horizon 2020: VisionNMD, Solve-RD; DG Sanco – EUCERD Joint Action, RD-Action (former Orphanet), E-CornCF, ENCE-LAM-CF-LTX; 2014 COST Action – ChipMe; 2015 Erasmus+ Programme – Gen-Equip, 2014 Norway Grants – coordinator National Coordination Centre for Rare Diseases; 2017- top 10 publications of the Am J Hum Genetics
Domestic grant projects: 19x Internal grant agency of the Czech Ministry of Health
Coauthor of several EU Policy Statements – eg. 2012- Biobanks for Europe: A challenge for governance; Joint Research Centre Ispra – Genetic Testing in Europe 2014; EUCERD –Recommendation on Crossborder Genetic Testing in rare diseases – 2015; PACITA project – 2015; Member of the Scientific Programme Committee – ESHG (2001-2014)
Member of the Scientific Programme Committee – ESHRE (2012-2015); Scientific Advisor to the EU Horizon 2020 Workprogramme in European Future Panel on Public Health Genomics. Leading Expert of the EU Czech EU Council Presidency ( for the drafting and adoption of the EU Council Recommendation on an EU Action in the field of rare diseases. Leading Author of the Czech National Strategy for Rare Diseases (2010-2015), Czech National Plans for Rare Diseases (2012-2015, 2015-2017)
Number of publications according to Web of Science: 152; Number of citations according to Web of Science: 5425
Number of citations according to Web of Science (without self-citations): 5263; H-index: 36 (WOS XII/2017)
1) Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S2, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.
2) Harper JC, Aittomäki K, Borry P, Cornel MC, de Wert G, Dondorp W, Geraedts J, Gianaroli L, Ketterson K, Liebaers I, Lundin K, Mertes H, Morris M, Pennings G, Sermon K, Spits C, Soini S, van Montfoort APA, Veiga A, Vermeesch JR, Viville S, Macek M Jr on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics. Recent developments in genetics and medically assisted reproduction: from research to clinical applications. Eur J Hum Genet. 2018 Jan;26(1):12-33. doi:10.1038/s41431-017-0016-z.
3) Vozikis A, Cooper DN, Mitropoulou C, Kambouris ME, Brand A, Dolzan V, Fortina P, Innocenti F, Lee MT, Leyens L, Macek M Jr, Al-Mulla F, Prainsack B, Squassina A, Taruscio D, van Schaik RH, Vayena E, Williams MS, Patrinos GP. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. Public Health Genomics. 2016;19(6):352-363. doi: 10.1159/000449152. Epub 2016 Sep 28.
4) Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr. Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754
5) Ostadal P, Alan D, Vejvoda J, Kukacka J, Macek M, Hajek P, Mates M, Kvapil M, Kettner J, Wiendl M, Aschermann O, Slaby J, Holm F, Telekes P, Horak D, Blasko P, Zemanek D, Veselka J, Cepova J. Fluvastatin in the first-line therapy of acute coronary syndrome: results of the multicenter, randomized, double-blind, placebo-controlled trial (the FACS-trial). Trials. 2010 May 25;11:61. doi: 10.1186/1745-6215-11-61
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Professor Milan Macek Jr. MD, DSc is the chairman of the Department of Medical- and Molecular genetics at 2nd Faculty of Medicine of Charles University Prague and University Hospital Motol ( and head of the National Coordination Centre for Rare Diseases ( within this department. He is also co-chairman of the National Cystic Fibrosis Centre. He studied medicine and has his paediatric residency training at Charles University Prague, did postdoctoral stays at Institute of Human Genetics, Humboldt University, Berlin and McKusick Nathans Center for Genomic Medicine at Johns Hopkins University, Baltimore. His main research interests comprise molecular genetics of rare diseases, development of novel therapies in cystic fibrosis, including involvement in public health initiatives related to rare disease-related diagnostics and care. In this regard, he has been member of the EUCERD- (European Union Committee of Experts on Rare Diseases) and its successive CEGRD (Commission Expert Group on Rare Diseases) committees. Prof. Macek´s department serves as a “clearing centre” for dissemination of knowledge in rare disease-related genetics/genomics gathered within various International collaborative European research projects, such as CF Thematic Network, EuroGentest I-II, EuroCareCF, RD-Connect, Eurenomics, Techgene, 3Gb-test, Orphanet, RD-Action or Norway Grants schemes to Central / Eastern European and the Middle Eastern diagnostic-/ research groups. Prof. Macek is also the Czech National coordinator of Orphanet and member of the Diagnostic Committee of the International Rare Disease Consortium. He was involved in the drafting of the Czech National Strategy for Rare Diseases, the Czech National Plans for Rare Diseases and the drafting of Czech genetics legislature. During the Czech EU Council Presidency he served as the chief government advisor for the adoption of the „EU Council Reccommendation on an action in the field of rare diseases“. Currently, he is involved in the adoption of the “Additional protocol on genetic testing for health care purposes” to the Oviedo “Convention on Human Rights and Biomedicine“ by the Czech Republic, which will enable its entry into force for the Council of Europe countries.

Prof. Macek is past President of the European Society of Human Genetics, and past board member of the European Cystic Fibrosis Society and the European Society for Human Reproduction and Embryology. He hosted the 1995 HUGO Mutation Detection Course in Brno, the 2005 European Society of Human Genetics conference and the 2008 European Cystic Fibrosis Conference, both held in Prague. Within the ESHG Board he serves as liaison for European National Human Genetics Societies and for inter-society (ESHG and ESHRE) joint position statements on reproductive genetics. Under his term as President of the ESHG he was involved in the recognition of clinical-/medical genetics as a European specialty via amendment of the European „Professional Qualifications Directive“.


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