Governing Board

The Governing Board consists of one representative from each partner institution and is responsible for setting annual objectives and policy in accordance with the rules of the European Union funding contract. The Governing Board provides legal and strategic oversight and ratifies any necessary changes to the consortium and workplan.

Peter-Bram ’t Hoen

Leiden University Medical Center

Although trained as a molecular biologist, Peter ’t Hoen acquired bioinformatics and programming skills and has become proficient in data analysis, data integration and statistics. His main incentive is to make optimal use of available data to improve our understanding of biology in general and muscle biology in particular, and to translate this into clinically relevant applications. He leads a multidisciplinary team of researchers (bioinformaticians, biostatisticians, computer scientists, molecular biologists, biochemists).

Christophe Béroud

Aix-Marseille University Medical School

Christophe Béroud has over 20 years of experience in research laboratories and is an expert in bioinformatics (LSDBs, prediction tools, databases) and molecular biology (diagnostic and prenatal diagnostic of DMC). He leads the centre for molecular diagnosis of Congenital Muscular Dystrophies (MDC1A) and is head of the Bioinformatics team in the Inserm UMR_S 910 research unit at the Aix-Marseille University Medical School.

André Blavier

Interactive Biosoftware

André is a co-founder of Interactive Biosoftware and principal architect of the Alamut software. Prior to embracing bioinformatics he worked as a computer scientist involved in R&D software projects including medical informatics. He has a background in medicine and computer science.

Kyle Brown


Kyle is a respected authority on rare disease patient registries and is a frequent speaker at research conferences. He has a background in consulting, working with pharmaceutical companies to streamline translational research programs through information technology.

Kate Bushby

Newcastle University

Kate is a clinical geneticist with an interest in the molecular genetics of the limb-girdle muscular dystrophies and related disorders. She coordinates the EUCERD Joint Action on Rare Diseases and is interested in rare disease policy and the development and implementation of care guidelines. Within RD-Connect, Kate leads the work on impact, communication and innovation.

Hugh Dawkins

Office of Population Health Genomics (OPHG)

Professor Dawkins leads the Office of Population Health Genomics (OPHG) in the development and management of policies, plans and statewide services to minimise the impact of rare diseases within Western Australia. Dr Dawkins is currently Chair of the National Rare Diseases Coordinating Committee; National Rare Diseases Working Group; and National Neuromuscular Diseases Registry Advisory Group and a member of the Coordinating Board of the endocrine virtual laboratory (endoVL) funded under the National eResearch Collaboration Tools and Resources (NeCTAR). As Director of OPHG, Prof. Dawkins is the nominated Australian contact for Orphanet and for the International Rare Disease Research Consortium (IRDiRC).

Monica Ensini

Newcastle University

Monica Ensini holds a PhD in Neurobiology from the University of Pisa and Scuola Normale Superiore of Pisa, Italy. She completed her post-doctoral training in the US. She worked at University College and King’s College in London and at the École Normale Supérieure in Paris before joining the Italian Telethon Foundation. Formerly Scientific Director at EURORDIS, Monica moved to Newcastle University in November 2013.

Alexander E. Felice

University of Malta

Professor Alex. E. Felice is a graduate of the Medical School of the University of Malta and the School of Graduate Studies of the Medical College of Georgia, Augusta GA, U.S.A. He held academic positions on the Faculty at Augusta and on the Research Service of the Veterans’ Administration Medical Center. In 1992 he was appointed Professor (Biomedical Sciences) in the University of Malta where he teaches courses in Molecular Biology and Genetics and the “Physiology of Blood and Body Defense Mechanisms” in the School of Medicine.

Paul Flicek

European Bioinformatics Institute

Paul Flicek is a Team Leader and Senior Scientist of the European Molecular Biology Laboratory and leads the Vertebrate Genomics Team at the European Bioinformatics Institute (EMBL’s Hinxton Outstation) near Cambridge, England. Paul’s research is focused on comparative regulatory genomics and the evolution of transcriptional regulation. He is also interested in the large-scale infrastructure required for modern bioinformatics including storage and access methods for high throughput sequencing data.

Ivo Gut

Centro Nacional de Análisis Genómico

Ivo Gut qualified in Chemistry and Physical Chemistry at the University of Basel. He then joined Harvard Medical School and later the Imperial Cancer Research Fund as a Research Fellow. He led a group in the Department for Vertebrate Genomics at the Max-Planck Institute for Molecular Genetics and worked at the Centre National de Génotypage of the Commissariat à l’Energie Atomique in Evry, France. Ivo Gut took on the direction of CNAG in January 2010.

Mats Hansson

Uppsala University

Mats Hansson is the director of the Centre for Research Ethics & Bioethics at the University of Uppsala and has conducted extensive research in biomedical ethics as principal investigator in multi-disciplinary research projects.

David Koubi


Dr. David KOUBI is Chief Executive Officer of FINOVATIS and President of FINOVATE. Within FINOVATIS his specific responsibility is as Director of the Projects and Networks Department. David holds a PhD in Neuropharmacology and has extensive experience in consultancy and project management.

Jan-Eric Litton

Karolinska Institutet

Jan-Eric Litton is Professor of Biomedical Computing at Karolinska Institutet, Department of Medical Epidemiology and Biostatistics. Litton is director of, sits in the Research Council Committee for Biobanks in Sweden (BISC) and is the leader of the Nordic Biobank network supported by all the Nordic countries.

Hanns Lochmüller

Newcastle University

Professor Hanns Lochmüller trained as a neurologist in Munich (Germany) and Montreal (Canada). He was appointed chair of experimental myology in the neuromuscular research group at the Institute of Genetic Medicine of Newcastle University in 2007. Hanns is the coordinator of the RD-Connect project.

Lucia Monaco

Fondazione Telethon

Lucia Monaco is the Chief Scientific Officer of Fondazione Telethon. She manages the Telethon research portfolio and peer review process and directed the creation of the Telethon Network of Genetic Biobanks. Within RD-Connect, she leads the work on biobanking.

José Luis Oliveira

University of Aveiro

José Luis Oliveira’s early background was in the field of distributed systems and applications on network and systems management. During the past 10 years he has been increasingly interested in bioinformatics and biomedical informatics.

George P. Patrinos

University of Patras

George serves as Assistant Professor of Pharmacogenomics in the University of Patras (Greece) and he is Greece’s National representative in the Pharmacogenomics working party of the European Medicines Agency (EMA, London, UK).

Manuel Posada

Instituto de Salud Carlos III

Manuel Posada graduate in Medicine and Surgery from the Universidad Autónoma de Madrid and has a PhD in Medicine. He is a project leader in more than 15 research projects addressing rare diseases.

Alfonso Valencia

Centro Nacional de Investigaciones Oncológicas

Alfonso is Director of the Structural Biology and Biocomputing Programme at Centro Nacional de Investigaciones Oncológicas (CNIO). He is a is a biologist with formal training in population genetics and biophysics.

Kurt Zatloukal

Medical University of Graz

Kurt Zatloukal is Professor of Pathology and coordinated the preparatory phase of a European biobanking and biomolecular resources research infrastructure (BBMRI) within the 7th EU framework programme (FP7). He leads in the FP7-funded large integrated project SPIDIA (Standardisation and improvement of generic pre-analytical tools and procedures for in-vitro diagnostics ) and the the medical platform of the FET Flagship project IT Future of Medicine. His research work focuses on metabolic diseases and cancer, including very rare cancers.