U.E.M.S. - Section of Clinical Genetics


Board Members

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Béla Melegh - President

Bela Melegh, was born in 1954 in Hungary. He has an MD, PhD, DSc, and is Head of the Department of Medical Genetics at the University of Pecs, Hungary. He graduated at the University of Pecs in 1978 and is professor of medical genetics and pediatrics. He received his PhD (1991) and DSc (1999) degrees at Hungarian Academy of Sciences, Budapest. He has National Board Exam qualification in Pediatrics, Laboratory medicine, Clinical Genetics, Laboratory genetics. 

His long-term scientific interest includes the elucidation of selected mitochondrial processes, like the research of the roles of carnitine in humans, the carnitine deficiency syndromes and conditions, with focus on some selected neuromuscular diseases. He is a co-leader of the national biobank consortium; using the local significant biobank collections his group performs population genetic research also on many rare and common disease entities. 

He is the head of the National Rare Disease Research Coordinating Center. He was formerly vice-dean of the Faculty of Medicine in one round of service. He is currently the president of Hungarian Society of Human Genetics (www.mhgt.hu), he is board member of European Society of Human Genetics, member of the European Board of Human Genetics. He served as vice president since the official establishment of the UEMS SCG and serves as president since 2015.



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. 





Board Members (Vice Presidents)

Ulf Kristoffersson (President: 2013-2015)

Ulf Kristoffersson was born 1948 and has an MS in genetics, and a MD with a PhD and is associate professor in clinical genetics at Lund University, Sweden. He is the former head of the Department of Clinical Genetics at the University Hospital in Lund, and is at present senior consultant at the same department. 

He graduated in 1986 with a thesis on chromosome aberrations in non-Hodgkin lymphomas. In the early 1990ies he started in 1993 the first clinical cancer genetic service unit in Sweden, and took the initiative to a regional cardiogenetic centre in 2005. He was a ESHG board member 2007-2002 and ESHG PPPC member 1997-2007, and has been active in the EuroGentest network as unit and work package leader 2003-2013.

His activities has during the latest 15 years been focussed around two items, 1) Community genetic issues, such as introducing new technology in health care, quality of service, and 2) Cancer genetics, mainly hereditary breast cancer. He was one of the driving forces in obtaining a European speciality in Clinical Genetics, and is the first chair of the UEMS section. 




 Milan Macek

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. 



Feliciano Ramos

1983: M.D. Degree at the University of Extremadura Medical School (Spain). 1984-1988: Resident of Pediatrics. University Hospital, Zaragoza, Spain. 1985: National Award of Pediatric Investigation. 1988: Ph.D. in Genetics at the University of Zaragoza Medical School, Zaragoza, Spain. 1990-1992: Fulbright Scholarship. Postdoctoral Fellow. The Children´s Hospital of Philadelphia, Philadelphia, USA. 1993: Board-Certified in Clinical Genetics (ABMG, USA) 1993-1996: Assistant Professor of Pediatrics. University of Zaragoza Medical School, Zaragoza, Spain. 1995-: Scientific advisor of the Spanish Association of families with Fragile X Syndrome. 1996-2006: Full Professor of Pediatrics. University of Zaragoza Medical School, Zaragoza, Spain. 2004-: Member of the Scientific Advisory Board of the National Fragile X Foundation (NFXF, USA). 2005-2013: President of the Spanish Society of Human Genetics (AEGH). 2006-: Chair Professor of Pediatrics, University of Zaragoza Medical School, Zaragoza, Spain. 2008-: Member of the Experts Committee of the Spain´s National Strategy for Rare Diseases. 2010-: Coordinator of the Spain´s National Reference Center for Cornelia de Lange Syndrome. Scientific advisor of the Spanish Association of families with Cornelia de Lange Syndrome. 2011-: Elected member of the Royal Academy of Medicine of Zaragoza. 2012-: Correspondant Member of the Spain´s National Academy of Medicine. 2012-: Member of the Scientific Committee of the Biobank of Aragón. 2013: Coordinator of the Clinical Group associated to CIBERER at the Hospital Clínico Universitario “Lozano Blesa”. 2013-: President of the Genetics Committee of the Hospital Clínico Universitario “Lozano Blesa”. 2014-: President-elect of the European Society of Human Genetics (ESHG). 2014-: President of the National Comission of Clinical Genetics (Ministry of Health, Spain).

Author of more than 100 scientific papers, many in SCI journals such as Nature Genetics, American Journal of Human Genetics, Human Molecular Genetics, Journal of Medical Genetics, European Journal of Human Genetics, Sci Transl, American Journal of Medical Genetics, etc.

Author of 48 chapters in Pediatrics and Genetics books.

Principal Investigator of more than 20 research projects funded by the Spain´s Ministry of Health (ISCIII-FIS) and by the Government of Aragón (regional).

Member of the Spanish Pediatric Society (AEP), the Spanish Society of Human Genetics (AEGH), the American Society of Human Genetics (ASHG), and the European Society of Human Genetics (ESHG). 



André Reis

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). 




Alessandra Renieri

Alessandra Renieri was born 1965 and graduated in Medicine in 1989. She has a PhD in Human Genetics and an Specialty degree in Medical Genetics. She is currently Full Professor of Medical Genetics at the School of Medicine of the University of Siena. She is the director of the Medical Genetics division of the General Hospital of Siena. 

Her main research interest is the study of the genetic basis of X-linked intellectual disabilities, including Rett syndrome, Alport syndrome, retinoblastoma and other rare cancers. She identified two new X-linked genes disease gene: FACL4 gene for non syndromic mental retardation and FOXG1 gene for Rett syndrome. Her laboratory was among the first in Italy to introduce the technology of array-CGH and more recently the Next Generation Sequencing. Since 2002 she directs the Genetic Biobank of Siena, which is part of the Telethon Network of Genetic Biobank (TNGB), is Partner of BBMRI (Biobanking and Biomolecular Resources Research Infrastructure), and member of EuroBioBank. Since 2009 she coordinates the international Rett Networked Database (www.rettdatabasenetwork.org). In the period 2004-2009 she was a board member of ESHG.

Research activities of Prof. Alessandra Renieri is documented by 167 original publications on international journals with a total IF of 753.779. She is author of 3 book chapters, 8 reviews made by request, and one N&V in Nat Genet. She has a H-index of 32, with a number of total citations of 3,621 and 114 articles in the last 10 years (updated at 2014).




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