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

  • UEMS SMG
  • UEMS SMG
  • UEMS SMG

Current Board Members

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Béla Melegh - President
Professor


Bela Melegh was born in 1954 in Hungary. He is an MD, PhD, DSc, graduated at the University of Pecs in 1978; he is professor of medical genetics and pediatrics, head of the Department of Medical Genetics, University of Pecs, Hungary. He got his PhD (1991) and DSc (1999) degrees at Hungarian Academy of Sciences, Budapest. His long-term scientific interest includes the investigation of selected neuromuscular and neurogenetic diseases. His laboratory is a leading molecular diagnostic center in Hungary, which offers also diagnostic platform for several genetic and genomic conditions. 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 as well. He is the head of the National Rare Disease Research Coordinating Center. He has National Board Exam qualification in Pediatrics, Laboratory medicine, Clinical Genetics, Laboratory genetics. Dr. Melegh actively involved in the undergraduate and postgraduate training of medical doctors and biologists, 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, he was board member of European Society of Human Genetics (2010-15), president of the Medical Branch of the European Board of Human Genetics, board member of the UDNI (Undiagnosed Disease Network International). Dr. Melegh is co-authored over 300 peer-reviewed research articles and book chapters.

 
Alessandra Renieri - Secretary
Professor


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).
 
Artúr Beke - Treasurer
Assistant Professor


Artur Beke MD PhD Med.Habil was born in 1965 in Vágsellye (Sala, Czechoslovakia). He graduated from the Semmelweis Medical University of Budapest in 1989. His workplace is the 1st Department of Obstetrics and Gynecology at Semmelweis University. He specialized in obstetrics and gynecology in 1993 and successfully passed the exam of anesthesia and intensive therapy in 1998. In 1994 he attended a foreign study trip at the Department of Obstetrics at Harvard University (Brigham and Women's Hospital). He specialized in Clinical Genetics in October 2004.In 1994 he was a founding member of the Obstetrics and Perinatal Society of Anesthesiology, and between 2000 and 2006 he was the Secretary General of the Society. In 2013, he was elected as the obstetrician chairman of the Society. He has participated in organizing many congresses. Recently, he participated as a member of the organizing committee in Budapest's "1st Congress of joint European Neonatal Societies (jNES) / 5th International Congress of Union of European Neonatal and Perinatal Societies"In 1998 he was appointed Deputy Head of Genetics Counseling. In January 2003 he was appointed Head of Genetics Counseling. He has been a member of the Clinical Genetics Qualification Supervisory Panel at the Semmelweis University since 2015. In 2012 he was elected as an Executive Member of the Hungarian Human Genetics Society and from 2012 until 2016 he served as the secretary of the Prenatal Diagnostic Sector.He obtained a PhD in 2005, within the framework of the Semmelweis University Doctoral School, the subject of the thesis was: "Cytogenetic background of fetal minor and major ultrasound anomalies in pregnancy". In 2013 he habilitated at Semmelweis University. The topic of the habilitation defense was: "Examination of genetic, developmental abnormalities during reproduction and pregnancy". He has received a research grant as a lead researcher, the topic of the research is: Molecular genetic examination of early ovarian depletion (POF / POI). He is a project leader in the Reproductive Medicine PhD program (Doctoral School of Clinical Medicine) which started in 2012. Number of scientific publications: 124, Book, book chapter: 13, impact factor Scientific Note: 48,371, Citation: Independent: 450.He is a member of several scientific societies, including: International Society of Ultrasound in Obstetrics and Gynecology, European Society of Human Genetics. In 2014 he was elected Secretary General of the international Union of European Neonatal and Perinatal Societies. Member of the European Union of Medical Specialists (UEMS) Multidisciplinary Joint Committee for Clinical Genetics from 2013.  In 2012 he received the Virginia Apgar Award.

 

 

Board Members (Vice Presidents)

 
Birgitte Rode Diness
Clinical Geneticist


Birgitte Rode Diness studied Medicine at Copenhagen University and was awarded an M.D degree in 2002. In 2005 she was awarded her PhD degree in the area of public health based on a study of neonates conducted in Guinea-Bissau, West Africa. After training in OBGYN and cardiology, she was accepted in the Clinical Genetics program at Copenhagen University Hospital, Rigshospitalet, and was recognized as specialist in Clinical Genetics in 2015. She is still working at this department.Birgitte Rode Diness main interest are aorthopaties and cardiogenetics, as well as ethical and legal implications of genetics and the continuous development of genetics service of high quality.Birgitte Diness is an associated professor at Copenhagen University, a member and former board member of the Danish Society of Medical Genetics.
 
Hannele Koillinen
Senior Consultant, Medical Geneticist

Hannele Koillinen was born in 1964. She graduated from the medical faculty of Turku University in 1991. She is a specialist in pediatric neurology (2004) and in clinical genetics (2006). Koillinen began to work in the field of pediatrics and pediatric neurology in 1993. Later, in 1998, she started to work in the Departments of Clinical Genetics (first in the Family Federation of Finland, in Helsinki, and then in Turku University Hospital) as a trainee. After receiving the specialist degree in clinical genetics 2006, she has worked as clinical geneticist in the Departments of Clinical Genetics of Helsinki University Hospital (2012 – 2017) and of Turku University Hospital (2006-2011 and 2018-). 
Hannele Koillinen is also a consultant in National Supervisory Authority for Welfare and Health (Valvira) in Finland .
Koillinen  obtained PhD degree in 2004 in Helsinki University under the supervision of Professor Juha Kere. The subject of her PhD thesis was genetics of cleft palate. Since then her interests have been about rare hereditary neurological disorders in childhood.  Her publications can be found: https://www.ncbi.nlm.nih.gov/pubmed/?term=Koillinen. She is a co-author of a chapter ‘Neurogenetics’ in the Finnish textbook ‘Lääketieteellinen genetiikka’ (2016, in English, Medical Genetics).
She has been the chair of the Finnish Society of Clinical Geneticists since 2013.
 
Ute Moog
Professor


Ute Moog studied medicine at the Universities of Saarbrücken and Aachen, Germany, and was funded by the German National Study Grant Board. She had her medical registration in 1982, followed by her thesis on chromosome aberrations in epileptic children and later moved to the Netherlands. She was trained in Clinical Genetics at University Hospital Maastricht, Netherlands, and defended a PhD thesis on the etiology of mental retardation at the University of Maastricht in 2005. In 2007, she moved back to Germany. She is at present associate professor in Clinical Genetics at the University of Heidelberg and head of the Outpatient Clinic of the Institute of Human Genetics.
Her areas of expertise, reflected by her clinical and research work, comprise the aetiological evaluation of developmental disorders and intellectual disability, dysmorphology, neurocutaneous disorders, and ethical questions. In the period 2011-2017, she was vice speaker of the ’Center for Rare Diseases University Medical Center Heidelberg’. Since 2008, she is member of the Ethical Committee of the Faculty of Medicine, University Heidelberg, and since 2017 speaker of the Ethical Committee of the German Society of Human Genetics.
 
Asbjørg Stray-Pedersen
Senior Consultant, Medical Geneticist


Asbjørg Stray-Pedersen was born 1967 and graduated in Medicine 1993. 
She is a specialist in Medical Genetics, and has a PhD in immunogenetics.  
She has worked for several years in clinical genetics. Started at Centre for Rare Disorders, and then moved over to the Pediatric Department and Department of Medical Genetics, Oslo University Hospital. She has worked as a research fellow at Prof. Jim Lupski’s lab Center for Mendelian Genomics, Baylor College of Medicine and with Prof. Jordan Orange, Center for Human Immunobiology Texas Children’s Hospital, Houston, Texas.
Currently she is working as a senior clinical consultant and researcher at the Norwegian National Unit for Newborn Screening. This laboratory was the first in Europe to introduce newborn screening for cystic fibrosis and severe combined immunodeficiency, and perform rapid NGS of dry blood spot DNA as part of the screening algorithm.
Asbjørg’s interests are rare pediatric disorders with a special focus on primary immunodeficiencies and congenital bone marrow failure syndromes.
She is the current chair of the Norwegian Society for Medical Genetics, and member of the Norwegian Medical Association’s medical board.
 
Peter Turnpenny
Professor


Current position / affiliations: Consultant Clinical Geneticist, Peninsula Clinical Genetics, Royal Devon & Exeter Healthcare NHS Trust, Exeter UK (since 1993); Honorary Clinical Professor, University of Exeter Medical School; Additional roles: Member, Board of Clinical Genetics Section, UEMS; Member, European Board of Medical Genetics; Specialist Adviser, Human Fertilisation & Embryology Authority, UK; Publications: - Books: Emery’s Elements of Medical Genetics (12th, 13th, 14th, and 15th [2017] Editions, Elsevier); Parenting A Child With, Or At Risk Of, Genetic Disorders (British Agencies for Adoption and Fostering, London, 2014); - Other: 14 Chapters or major reviews; ~130 Peer-reviewed scientific articles; Former roles include: President, Clinical Genetics Society (UK), 2011-13; Question writer and examiner, UK Specialist Certificate Examination in Clinical Genetics, 2011-16; Special interests: The genetics of congenital spinal malformations and congenital scoliosis; Fetal anticonvulsant syndromes; Hypermobility, Ehlers-Danlos syndromes, and related connective tissue disorders; Gene discovery in rare disease; Support for isolated and aspiring Clinical Geneticists in developing nations.
 
Alain Verloes
Professor
Present position. Full Professor of Medical Genetics, Paris VII-Denis Diderot University, Paris, France (2001-present); Head, Clinical Genetics Unit (2001-present) and Department of Genetics (2012-present), Robert DEBRE University Hospital, Paris, France; Head, Reference Center for Rare Disorders “developmental anomalies and MCA syndromes – Ile-de-France” (2005-present);
Education. MD degree, Brussels Free University, Belgium (1975-1982); Specialty Training in Pediatrics and Genetics, Liège University, Belgium (1982-1989);
Career summary prior to present position. 1989-1998: Clinical Geneticist, Dept of Genetics, Liège University Hospital, Belgium; 1998-2001:  Clinical Professor of Genetics, Liège University, Belgium;
Government and Public Service. Co-Organizer of the yearly European Dysmorphology Meeting, Strasbourg, France (2013-present); Head, National Reference Centre for Rare Disorders “developmental anomalies and MCA syndromes” (2005-present)”; organizer and coordinator of the Inter-university Course “Dysmorphology and MCA”, 2007-present;
Editorial Boards. Editor in Chief, European Journal of Medical Genetics, 2011-present Editorial Board Member, American Journal of Medical Genetics (2001-present), Orphanet Journal of Rare Diseases (2000-present);
Research Interests.  RASopathies, primary microcephalies, genetic causes of intellectual disabilities;
Bibliography. 12 book chapters on clinical genetics; author or co-author of 405 articles & letters in peer-reviewed journals (from PubMed); H index (from Web of Science): 56
 
Ulf Kristoffersson (President: 2013-2015)
Associate Professor


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 with the specific task to build a regional rare diseases centre for South Sweden 2015-2017. From 2018 he will act as senior consultant in the department.
He became medical specialist in clinical genetics in 1982, graduated in 1986 with a thesis on chromosome aberrations in non-Hodgkin lymphomas and was appointed associate professor at Lund university 1989. In 1993 he set up the first clinical cancer genetic service unit in Sweden, and opened the same year a  a neurogenetic clinic focused on Huntington disease testing, and in 2005 took the initiative to a regional cardiogenetic centre. He was a ESHG board member 1997-2002 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 focused 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 specialty in Clinical Genetics, and is the first chair of the UEMS section. 
 
Feliciano Ramos
Professor


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). 
You shall not pass!