Kristiina Aittomäki - Secretary
Kristiina Aittomäki studied medicine in the University of Helsinki and graduated in 1980. She first did specialist training in gynecology and obstetrics finalizing her training in 1991. Thereafter she worked on her thesis, in which she identified a recessive form of primary ovarian failure, FSH resistant ovaries (FSHRO) caused by mutations in the FSHR gene, the first gynecological disorder of the Finnish disease heritage. She finished her training in Clinical Genetics in 1995 and had a lecturer position in medical genetics at the University of Helsinki for several years. She has also worked as the Head of Familial Cancer Unit at Victorian Clinical Genetic Services (later Genetic Health Victoria), Melbourne, Australia.
Kristiina Aittomäki is the Head of Genetics in the Helsinki University Hospital and Professor of Clinical Genetics at the University of Helsinki. Her research interests include reproductive genetics and cancer genetics and she has 190 original publications. She has been awarded with The Medical Genetics Award, Finnish Society of Medical Genetics in 1996, the FIGO Award for Outstanding Contribution to the Promotion of Women’s Health in 1997 and The Best Biomedical Publication in Finland in 2002.
In UEMS Section of Clinical Genetics Kristiina Aittomäki serves as the secretary.
Helen Kingston - Treasurer
Helen Kingston studied Medicine at Manchester University, qualifying in 1975. Specialist training in Clinical Genetics was undertaken in Cardiff and Los Angeles before becoming a Consultant in the Genomic Medicine Department at the Central Manchester University Hospitals NHS Trust in 1986.
Dr Kingston was awarded an M.D. degree in 1983 for research localising the gene for Becker muscular dystrophy. Subsequent clinical and research interests have centred mainly around dysmorphology, neuromuscular genetics and ethnic minority populations, leading to the clinical delineation and gene identification in rare developmental and neurological syndromes and recommendations on service development. Publications include 1 book, 6 book chapters, 4 invited reviews and 80 peer reviewed research papers.
Dr Kingston is a Fellow of the Royal College of Physicians of London, past Chairman of the national Specialist Training Committee for Clinical Genetics in the UK, Secretary of the UK Clinical Genetics Society, one of the founding members of the UEMS Multidisciplinary Joint Committee for Clinical Genetics and a current Member of the Examination Board for Clinical Genetics in the UK.
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), board member of the European Society for Human Reproduction and Embryology (ESHRE.eu) 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. He also serves at the EUCERD.eu committee on rare diseases.
André Reis studied Medicine at the Universities of Göttingen and Lübeck and was awarded an M.D. degree in 1986. He received his specialty training in Göttingen and Berlin where he became associate professor for medical genetics in 1998. Since 2000 he is full professor and director of the Institute of Human Genetics at the University of Erlangen-Nürnberg.
Prof. Reis was awarded an M.D. in 1986. His research centres on elucidation of the molecular basis of both monogenic and complex traits and genotype/phenotype correlation. His group mapped and identified numerous disease genes with a focus on disorders associated with intellectual disability. He has also performed association studies in complex diseases i.e. glaucoma and psoriasis. He has coordinated several large research consortia. His bibliography lists more than 270 original publications that received in excess of 11,000 citations.
Prof. Reis is a member of the German National Academy of Sciences (Leopoldina), past board member of the German Human Genome Project (2001-2004), past president of the German Society of Human Genetics (GfH) (2008-2012) and is currently an elected review board member of the German Research Foundation (DFG).