His main research and clinical interests are in the field of molecular genomics of rare diseases, including their deep phenotyping, and in ways on how to bring genomics knowledge to the bedside via targeted therapies with orphan medicinal products. He has also been involved in health economics “cost of illness” studies in this regard. His citation index is over 11,000x with H –index of 33.
Prof. Macek is also the past President of the European Society of Human Genetics (www.eshg,org; 2010-2011 ESHG), currently serves at the ESHG liaison for European National Human Genetics Societies (https://www.eshg.org/76.0.html). Under his leadership medical genetics was recognized as an official EU specialty in the Professional Qualifications Directive in 2011. He also closely collaborated with the Council of Europe on the ratification of the Additional protocol on genetic testing for health purposes to the Oviedo convention (2019). Moreover, he had also been the board member of the European Society of Human Reproduction and Embryology (www.eshre.eu; ESHRE) where he was responsible for three joint position statements of ESHG and ESHRE in the field of reproductive genetics as their senior author. Prof. Macek served at the European Commission Expert Group on Rare Diseases (formerly www.eucerd.eu) and is currently involved in the European Board of Member States for European Reference Networks for Rare Diseases (https://ec.europa.eu/health/ern_en), including the newly formed EU Advisory Board on ERN sustainability. He had also been member of the Diagnostic Committee of the International Rare Disease Consortium (www.irdirc.org). Prof. Macek is currently the president of the Czech Society of Medical Genetics and Genomics (www.slg.cz). Finally, he was the chief government advisor of the CZ EU Council presidency under which the EU Council recommendation on a field of action in rare diseases was been adopted in 2009