Professor Milan Macek Jr. MD, DSc is the chairman of the largest academic medical / molecular genetics institution in the Czech Republic, which also comprises a research / diagnostics reproductive genetics centre /ublg.lf2.cuni.cz/. He is also the past President of the European Society of Human Genetics (www.eshg,org), ex-board member of the European Society for Human Reproduction and Embryology (ESHRE.com) and of the European Cystic Fibrosis Society (ECFS.eu). His institute is a "clearing centre" for dissemination of knowledge in genetics gathered within various international European projects, such as CF Thematic Network, EuroGentest, EuroCareCF, Techgene or RD-Connect to Central and Eastern Europe. Prof. Macek did his first postdoc at the Institut of Human Genetics in Berlin, continued as a postdoctoral fellow at the McKusick-Nathans Centre for Genetic Medicine, Johns Hopkins University in Baltimore and during that time he was also a fellow at Harvard School of Medicine in Boston. He was the local host of the 1995 HUGO Mutation Detection Course in Brno, the 2005 European Society of Human Genetics conference and of the 2008 European Cystic Fibrosis Conference, both held in Prague. Prof. Macek is national coordinator of Orphanet (www.orpha.net), active member of Eurogentest (www.eurogentest.org), has been the chief advisor of the Czech EU Council Presidency under which the “EU Council recommendation on an action in the field of rare diseases“was adopted in June 2009. Prof. Macek is a medical molecular geneticist whose main interest is in rare diseases (H-index 29), medical student education and promotion of rare disease awareness amongst the professional- and lay public.