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Scientific Advisory Council

International Scientific Advisory Council
The activities of the Golden Helix Institute of Biomedical Research are supervised by an international scientific advisory council, consisting of world leaders in the field of translational medicine. Currently, the international Scientific Advisory Council consists of the following members (in alphabetical order):

• Wilhelm J. ANSORGE (Lausanne, CH), Professor and advisor for EPFL and EMBO member with pioneer work in the field of DNA sequencing.
• Stylianos E. ANTONARAKIS (Geneva, CH), Professor in the University of Geneva medical schoold, a world renown geneticist with reputation in the field of human molecular genetics. Achievements include work in hemoglobinopathies and autism, being a key figure in the sequencing effort of chromosome 21.
• Nancy COX (Chicago, IL, USA), received her B.S. in biology from the University of Notre Dame, 1978 and her Ph.D. in Human Genetics from Yale University, 1982. She currently serves as Professor and Section Chief, in the section of Genetic Medicine of the University of Chicago Medical School. She is a member of the Computational Institute and a member of the Committees on Genetics, Molecular Medicine and Cancer Biology.
• Norman DELANTY (Dublin, IRL), Consultant Neurologist and Director of the Epilepsy Service and National Epilepsy Surgery Programme at Beaumont Hospital, Dublin. He is also Honorary Senior Lecturer at the Department of Molecular and Cellular Therapeutics at the Royal College of Surgeons in Ireland (RCSI). He is a Principal Investigator on a Pharmacogenomics of Epilepsy project, funded by the Programme for Human Genomics, RCSI via the Higher Education Authority of Ireland.
• Beverly EMANUEL (Philadelphia, PA, USA), Chief at the Division of Human Genetics and Molecular Biology and the Charles E. Upham Professor of Pediatrics at the University of Pennsylania School of Medicine.
• Paolo FORTINA (Philadelphia, PA, USA), Professor at Thomas Jefferson University with long contribution in the field of technology for genetic analysis.
• Federico INNOCENTI (Chapel Hill, NC, USA), Associate Professor at the University of North Carolina with involvement in pharmacogenomics of irinotecan treatment, personalized medicine and genome-wide association studies.
• Panagoula KOLLIA (Athens, GR), Assistant Professor at the University of Athens with research interests pertaining to human genomics.
• Adrian LLERENA (Extremadura, ES), Professor at the Univeristy of Extremadura and Spain's representative at the European Medicine Agency Pharmacogenomics Working Party. Professor Llerena research interests involve clinical pharmacology and pharmacogenomics of psychiatric diseases, while he has also set up the IberoAmerican network of Pharmacogenomics.
• 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 (http://ublg.lf2.cuni.cz). He is also the Vice President of the European Society of Human Genetics, board member of the European Society for Human Reproduction and Embryology and of the European Cystic Fibrosis Society. 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 or Techgene, 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, active member of Eurogentest, 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. This EU document also has a bearing on the provision of molecular genetic diagnostics of rare monogenic diseases in Europe and beyond. Prof. Macek also serves at the EUCERD.eu committee on rare diseases. He has been involved in 26 international grants, so far  and is author-/coauthor on 67 international publications that have been cited more than 2100x and reached a mean impact factor of 9,77, with H-index of 23.
• Giuseppe NOVELLI, Head of the Human Genetics Research Unit at The Tor Vergata University of Rome (Italy). He served the School of Medicine of Rome Tor Vergata as Dean during the period 2008-2011. He is Adjunct Prof. at the Div. of Cardiology, University of Arkansas, Little Rock, (USA). Professor Novelli is member of the Pharmacogenetics Working Party and the Scientific advisory group (SAG) for Diagnostics of the Committee for Human Medicinal Products (CHMP) at the EMA (European Medicines Agency) in London. Prof. Novelli is member of the Regional Italian Committee for Rare Diseases. He has also served for a period of 4 years as the member of OECD (Organisation for Economic Co-Operation and Development) in Genetic Tests Programs in Europe, and  for many years the Italian National Committee for Biotechnology, the National Committee on Genetic Testing of the Italian Ministry of Health. He served as expert the  Ministère de la Santé (France). At presenti s Board Member of the Italian National Agency foe Evaluation of Universities and Research Institutes (ANVUR).
  Professor Novelli’s team undertakes a broad spectrum of research from the basic mechanisms of genetic diseases to translational projects involving gene therapy strategies and novel diagnostic methods for prenatal diagnosis. Prof. Novelli’s group, has made a significant and internationally recognised contribution towards understanding the relationship between disruption of the nuclear envelope lamin protein and premature aging. This includes the first demonstration that a mutation in the lamin gene can induce premature aging in humans and recently the discovery the genetic basis of Psoriasis. During the last 5 years Prof Novelli has tackled a new initiative, the use of gene targeting approaches to modify gene sequence in normal and mutated cells in vitro and in vivo. Prof. Novelli has over 380 original scientific publications including invited reviews for leader Journals in the field. The H-index is 44. He has long standing experience in project management, being PI for numerous projects funded by the Italian Ministry of Research, Italian Ministry of Health, Italian Telethon, and EU-FP6 (NACBO), Eu-FP6 (Euro-Laminopathies), Eu-FP7 (BIO-NMD, Identifying and validating pre-clinical biomarkers for diagnostics and therapeutics of Neuromuscular Disorders).
• George P. PATRINOS (Patras, GR), Assistant Professor at the University of Patras and adjunct professor at Erasmus University Medical Center (Rotterdam, the Netherlands), co-founder of the Golden Helix Institute of Biomedical Research, whose research interest involve establishment and evolution of the National Genetic database field, human genomics and pharmacogemonics for oncology, hemoglobinopathies and neuropsychiatric diseases. George Patrinos is also National representative at the European Medicine Agency Pharmacogenomics Working Party and Secretary-General of the European Society of Pharmacogenomics and Theranostics.
• Ron van SCHAIK (Rotterdam, NL), Associate Professor at Erasmus University Medical Center with research interests pertaining to clinical implementation of pharmacogenomics. He is also Vice President of the European Society of Pharmacogenomics and Theranostics.
• Graham TAYLOR (Leeds, UK), Graham Taylor completed a PhD in Virology at Surrey University, following an undergraduate degree in Biochemistry at Warwick University. He subsequently returned to Warwick for 1 year’s postdoctoral work with Professor SB (Sandy) Primrose, then a 5 year MRC postdoctoral fellowship at the MRC Clinical Research Centre working gene expression in neuropsychiatric disease. In 1988 he joined the NHS at the University Department of Haematology in Manchester and developed a PCR method to detect HIV infection in haemophilia. He then moved to the Regional Genetics Service in Leeds where he established a molecular genetics service. In this setting he developed and published the first use of microsatellites for genetic diagnosis, the first report of genetic diagnosis from foetal necropsy material, the first use of automated fluorescent fragment analysis for genetic diagnosis and numerous other initiatives in the area of molecular genetics and pathology. At this time he led the pilot project and is current member of steering group for UK diagnostic mutation database DMuDB. This is the world’s first and only mutation database populated by variants identified under robust diagnostic conditions. He played a major role in negotiating genetics service developments based on the Department of Health’s “White Paper” funding that enabled significant improvements to be made to the Regional Genetics Service. This was supported by his role as Principal Investigator in a department of Health Funded project “New genetic diagnostic technologies for consanguineous families at risk of recessive genetic disease.” In 2006 he took up the appointment of Head of Genomic Services for Cancer Research UK, overseeing the activity of 5 separate laboratories delivering advanced genomic technology and informatics for CR-UK researchers nationally. He also chaired the CR-UK SNP committee, an advisory committee for genome wide association (GWA) and other large-scale association studies. The GWA studies were considered to be one of CR-UK’s major research achievements of 2007/8. At CR-UK he led a review of CR-UK bioinformatics demand and capacity.The lead role in the CR-UK clonal sequencing evaluation on the cost and performance of next generation sequencers carried out by CR-UK established grant funding for a Next Generation Sequencing Facility at Leeds from April 2008. This led to the first report of “next generation” sequencing technology for genetic diagnosis. In 2009 he joined the Leeds Teaching Hospitals and Leeds University as Head of the Genetics Development and Innovation Unit. Current interests are the development of diagnostic applications of Next Generation Sequencing, and the issues around data management and databases to enable the intelligent use of the huge increase in data being generated. Since 2009, Graham Taylor is the President of Human Genome Variation Society.