CZ
Homepage › Fellows › Fellows of the Learned Society › Macek Milan
Back to the list of articles

09.12.2023

Macek Milan

Prof. M.D., DSc, M.H.A.
Born December 24, 1961 in Prague 

  • Medical genetics, molecular genetics and genomics, rare diseases
  • Member of the Learned Society since 2022

Educational and professional preparation

  • 1) 1980-1986 – 2. Faculty of Medicine, Charles University Prague; graduation with "Magna cum Laude" and with "Rector´s Distinction" for the "Best Student of the Class of 1986
  • 2) 1986-1988 – Pediatric residency (Liberec regional hospital; Czechoslovakia)
  • 3) 1986-1994 – Postgraduate training at the Department of Clinical Biochemistry, 1st Faculty of Medicine, Charles University, Prague
    • a. X-XI/1986 – fellowship at the Department of Clinical Genetics, Uppsala University, Sweden
    • b. 1987-1988 – fellowship at the Department of Experimental Virology, Institute of Sera & Vaccines, Prague
  • 4) 1989-1992 – 1. postdoctoral fellowship – Institute of Human Genetics, Humboldt University Berlin, Germany
    • a. V/1990 – European School of Medical Genetics in Sestri Levante, Italy
    • b. X/1991 – fellow at the Harvard School of Medicine, Deptartment of Pediatrics, Boston, U.S.A.
    • c. II/1992 – fellow at Institute of Cancer Research, Hospital Duran y Reynals, Barcelona, Spain
  • 5) V/1992-VI/1995 – 2. postdoctoral fellowship- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.
  • 6) IV/2004 – 3rd. Genetic Counselling Course – Bertinoro, Italy
  • 7) IV/2008 – Medical Genetics Course (ESHG.org), Bertinoro, Italy
  • 8) IX/2011-VI/2013 – Advance Health Care Management Institute Prague –health economics and management (finished by Master of Healthcare Administration exam; M.H.A.)

Employment and academic positions

  • 1987-1988 – fellowship at the Department of Experimental Virology, Institute of Sera & Vaccines, Prague
  • 1989-1992 – 1. postdoctoral fellowship – Institute of Human Genetics, Humboldt University (formerly Free University), Berlin, Germany
  • V/1992-VI/1995 – 2. postdoctoral fellowship - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA
  • VI/1995 –XII/2006 – researcher at the Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Motol University Hospital, Charles University, Prague
  • I/2006–ongoing – department chairman at the Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Motol University Hospital, Charles University, Prague

Membership in selected domestic scientific bodies

  • 1995 – ongoing member of the Czech Society of Medical Genetics and Genomics of J.E.Purkyně (www.slg.cz)
  • 2010 – ongoing President of the Czech Society of Medical Genetics and Genomics of J.E.Purkyně (www.slg.cz)
  • 2010 – ongoing Coordinator of the National taskforce on Rare Diseases at the Czech Ministry of Health (www.mzcr.cz)
  • 2010 – ongoing National coordinator of Orphanet (www.orpha.net)
  • 2012 – ongoing chairman of the National Coordination Centre for Rare Diseases of the Czech Rep. (www.nkcvo.cz) officially appointed by the Czech Ministry of Health

Membership and positions in selected international organizations and societies

  • 1992 – ongoing American Society of Human Genetics (www.ashg.org)
  • 2010-2011 – President of the European Society of Human Genetics (www.eshg.org) and currently serving as the Liaison officer for National Human Genetics Societies (www.eshg.org/76.0.html)
  • 2007-2014 – European Cystic Fibrosis Society – Board Member and since 2014 member of the European Cystic Fibrosis Registry Scientific Committee (www.ecfs.eu)
  • 2012–2018 – International Rare Disease Research Consortium (www.irdirc.org) – member of its Diagnostic Committee
  • 2012 –2017 – European Union Committee of Rare Disease Experts (EUCERD.eu) – European Commission appointed expert member on rare diseases and its Central and Eastern European liaison
  • 2017 – ongoing European Board of Member States for Rare Diseases of the European Commission representing the Czech Republic (health.ec.europa.eu/european-reference-networks/board-member-states_en)

Notable awards

  • The 1991 Annual Czech Medical Society of J. E. Purkyne Prize
  • The 1995 Award of the Ministry of Health of the Czech Republic for medical research
  • The 1996 Charles University / 1st School of Medicine Top 10 Award for medical research
  • The 1997 Award of the Ministry of Health of the Czech Republic for medical research
  • The 2003 Annual Award of the Czech Society of Medical Genetics for medical research 
  • The 2015 honorary award of the Slovak Society of Medical Genetics („Izakovič Medal“) for medical genetics research (www.sslg.sk)
  • The 2020 honorary award from the Rare diseases Czech Republic national patient alliance (www.vzacna-onemocneni.cz)
  • 2021 – Lifetime Achievement Award from European rare disease patient association - Eurordis.org
  • 2021 – Silver Medal from Charles University, Prague, for life-long contribution to the field of medical/molecular genetics

Selected publications

A total of 57 publications (29 in category Q1 between 2017-2022) 

  • Mlčoch T, Klimeš J, Fila L, Vávrová V, Skalická V, Turnovec M, Krulišová V., Jirčíková J, Zemková D, Dědečková KV, Bílková A, Frühaufová V, Homola L, Friedmannová Z, Drnek R, Dřevínek P, Doležal T, Macek Jr. M. Cost-of-illness analysis and regression modeling in cystic fibrosis: a retrospective prevalence-based study. European Journal of Health Economics 2017;18(1):73-82. doi: 10.1007/s10198-015-0759-9; IF 2,5 (Q1)
  • 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 Jr. M., Matthijs G, Olry A, Parker S, 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. American Journal of Human Genetics 2017; 4;100(5):695-705; doi: 10.1016/j.ajhg.2017.04.003. IF 10,362 (Q1)
  • Kristoffersson U, Macek Jr. M. From Mendel to Medical Genetics. European Journal of Human Genetics 2017; 25(s2):S53-S58; doi: 10.1038/ejhg.2017.157; IF 4,287 (Q2)
  • Ivády G, Madar L, Dzsudzsák E, Koczok K, Kappelmayer J, Krulisova V, Macek M Jr, Horváth A, Balogh I. Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing systém. BMC Genomics. 2018;19(1):158. doi: 10.1186/s12864-018-4544-x. IF 3,73 (Q2)
  • 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;26(1):12-33. doi: 10.1038/s41431-017-0016-z. IF 3,636 (Q2)
  • Bonaventura J, Norambuena P, Tomašov P, Jindrová D, Šedivá H, Macek Jr M, Veselka J. The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy. Archives of Medical Science; doi.org/10.5114/aoms.2018.78767. 15-34904A. IF 2,344 (Q2)
  • Jackson L, O'Connor A, Paneque M, Curtisova V, Lunt PW, Kremlikova Pourova RK, Macek M Jr, Stefansdottir V, Turchetti D, Campos M, Henneman L, Godino L, Skirton H, Cornel MC. The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages. Genet Med. 2018; doi: 10.1038/s41436-018-0132-3. IF 9,937 (Q1)
  • Nagy B Jr, Bene Z, Fejes Z, Heltshe SL, Reid D, Ronan NJ, McCarthy Y, Smith D, Nagy A, Joseloff E, Balla G, Kappelmayer J, Macek Jr. M, Bell SC, Plant BJ, Amaral MD, Balogh I. Human epididymis protein 4 (HE4) levels inversely correlate with lung function improvement (delta FEV1) in cystic fibrosis patients receiving ivacaftor treatment. Cyst Fibros. 2019;18(2):271-277. doi: 10.1016/j.jcf.2018.08.013. 00064203. IF 4,29 (Q1)
  • Jackson L, O'Connor A, Paneque M, Curtisova V, Lunt PW, Pourova RK, Macek Jr. M, Stefansdottir V, Turchetti D, Campos M, Henneman L, Godino L, Skirton H, Cornel MC. The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages. Genet Med. 2019;21(3):718-726. doi: 10.1038/s41436-018-0132-3. IF 8,683 (Q1)
  • Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC, Burgel PR, Tullis E, Castaños C, Castellani C, Byrnes CA, Cathcart F, Chotirmall SH, Cosgriff R, Eichler I, Fajac I, Goss CH, Drevinek P, Farrell PM, Gravelle AM, Havermans T, Mayer-Hamblett N, Kashirskaya N, Kerem E, Mathew JL, McKone EF, Naehrlich L, Nasr SZ, Oates GR, O'Neill C, Pypops U, Raraigh KS, Rowe SM, Southern KW, Sivam S, Stephenson AL, Zampoli M, Ratjen F. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2019 pii: S2213-2600(19)30337-6. doi: 10.1016/S2213-2600(19)30337-6; IP00064203/6003. IF 22,992. (Q1)

More information