Executive Management Committee

The Executive Management Committee (EMC) consists of work package leaders and is responsible for the day-to-day operational management of the project alongside the coordination team.

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.

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.

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.

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.

Domenica Taruscio

Istituto Superiore di Sanità (ISS)

Domenica Taruscio is Director of the National Center for Rare Diseases at Istituto Superiore di Sanità (ISS). She leads the RD-Connect work package on databases and patient registries.