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John Dawson

Newcastle University

John completed a BSc in Computing Science at Newcastle University after which he worked as a Web Developer on a project at the university, specializing in PHP (Laravel) and JavaScript (jQuery and D3). Following the completion of this project he moved to the RD-Connect project where he uses his technical background to help with data coordination.

Federico De Paulis

Istituto Superiore di Sanità (ISS)

Federico De Paulis is a trainee in the Istituto Superiore di Sanità (ISS).

Andrew Devereau

National Genetics Reference Laboratory Manchester

Andrew Devereau is a Computer Scientist and Director of NGRL Manchester.

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.

Mirella Filocamo

Telethon Network of Genetic Biobanks

Mirella Filocamo is currently Head of the “Centro di diagnostica genetica e biochimica delle malattie metaboliche” at the Department of Research and Diagnostics, G. Gaslini Institute, Genoa, Italy. The Centre includes the “Cell line and DNA Biobank from patients affected by Genetic Diseases” that is part of the “Telethon Network of Genetic Biobanks” of which Mirella Filocamo is the Coordinator.

Alexandra Fiott

University of Malta

Alexandra has a background in Biomedical Sciences and biobanking. She has worked in her current role since 2010.

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.

Martin Fransson

Karolinska Institutet

Martin Fransson has a background as a Project coordinator in biobanking, project planning, pharmacometrics, and computer science.

Sabina Gainotti

Istituto Superiore di Sanità (ISS)

Sabina is a medical sociologist and a bioethicist at the Istutito Superiore di Sanità (ISS). She is collaborating with RD-Connect in the activities on rare disease registries and ethical, legal and social issues (ELSI).

Barbara Garavaglia

Telethon Network of Genetic Biobanks

Barbara Garavaglia is Associate of Biology at the Molecular Neurogenetics Unit, Istituto Neurologico “C. Besta”, Milan, Italy. She is Deputy Director of the Unit, Head of the Laboratory of Movement Disorder, Manager of the Cell Culture Laboratory and of the Laboratory of Biochemistry for Mitochondrial Disease.

Andrés García-Montero

National DNA Bank-Carlos III. University of Salamanca

Dr. Andrés García-Montero holds a degree in Biology from the University of Salamanca and obtained his PhD at the University of Salamanca. Currently, he is a researcher at the Cancer Research Institute of the USAL and Technical Director of the BNADN.

Muriel Gevrey

CMT France

Affected by Charcot-Marie-Tooth (CMT) disease and from a CMT family, Muriel Gevrey was an active member of CMT-France for several years before becoming president in 2012.

Marta Girdea

The Centre for Computational Medicine, Hospital for Sick Children, Toronto

Marta Girdea is a Postdoctoral fellow in the Department of Computer Science at the University of Toronto and the Centre for Computational Medicine at the Hospital for Sick Children.

Stefano Goldwurm

Telethon Network of Genetic Biobanks

Stefano works as Clinical Geneticist at the Parkinson Institute of Milan, Italy. His main interests are molecular genetic research on Parkinson Disease and related disorders.

Caroline Graham

Office of Population Health Genomics (OPHG)

Dr Graham is the National coordinator of the Australian Neuromuscular Disorders Registries that includes Duchenne Muscular Dystrophy, Myotonic Dystrophy, and Spinal Muscular Atrophy. She coordinates the establishment and partnering of Australia-wide and international registries and biobanks.

Tudor Groza

Garvan Institute of Medical Research

Tudor is a Chief Technology Officer and Senior Research Officer at the Garvan Institute of Medical Research. Within RD-Connect he is developing bioinformatic tools for clinical phenotypic as well as genomic 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.

Marc Hanauer

INSERM US14 – Orphanet

Marc Hanauer is an engineer at INSERM and Chief Technology Officer at Orphanet.

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.

Simon Heath

Centro Nacional de Análisis Genómico

Simon Heath studied Zoology at the University of Oxford, and obtained his Ph.D. in Quantitative Genetics from the University of Edinburgh in 1995. His background is at the University of Washington, Seattle and the Rockefeller University and the Memorial Sloan-Kettering Cancer Center in New York. In 2001 he joined the Centre National de Génotypage (CNG) in Evry, France. Simon Heath joined the CNAG in 2010.

Eric P Hoffman

Children’s National Medical Center

Dr. Hoffman’s research has focused on molecular genetics, pathogenesis, and therapeutics of neuromuscular disease. His research group at Children’s National Medical Center focuses on development of therapeutics for Duchenne muscular dystrophy.

Larry Hunter

University of Colorado Denver

Larry is the Director of the Center for Computational Biology and of the Computational Bioscience Program at the University of Colorado School of Medicine. His research interests lie in the development and application of advanced computational techniques for biomedicine, particularly the application of statistical and knowledge-based techniques to the analysis of high-throughput data and of biomedical texts. He is a member of the Scientific Advisory Board of RD-Connect.

Joseph Irwin

Lakeside Regulatory Consulting Services Ltd.

Joseph is a biochemist-pharmacologist and worked for many years in hospital-based research and for the pharmaceutical industry. Presently, he is an independent consultant on regulatory matters. He supports the Paediatric Task Force for the European Organisation for Rare Disorders (EURORDIS) and focuses on rare neuromuscular diseases. Within RD-Connect, he is a member of the Scientific Advisory Board (SAB), Rare Disease Patient and Ethics Council (RD-PEC) and Patient Advisory Council (PAC).

Julian Isla

Dravet Syndrome Foundation

Julian Isla is the father of a child with a rare disease. He is founder and chairman of the Dravet Syndrome Foundation and is also the president of the Dravet Syndrome European Federation.

Sigurður Hólmar Jóhannesson

AHC Federation of Europe

Sigurður Hólmar Jóhannesson is the Founder and president of Alternating Hemiplegia of Childhood (AHC) association of Iceland, co-founder and president of the AHC Federation of Europe and co-founder and moderator of the AHC International Alliance.

Jan Kirschner

Universitätsklinikum Freiburg

Jan Kirschner completed his medical studies in Freiburg, Newcastle-upon-Tyne (UK) and Bern (Switzerland). His main research interests are the treatment of neuromuscular diseases in the context of clinical trials and the differential diagnosis and pathophysiology of myopathies and muscular dystrophies.

Bartha Knoppers

McGill University

Dr Bartha Knoppers is the Director of the Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University. Her career has focused on the fields of medical law and biomedical ethics including issues of societal importance such as biobanks, stem cells, cloning, human biotechnologies, genetic research on populations, assisted reproduction, neonatal screening, pharmacogenomics, rare diseases and the future of public health. Bartha chairs the Scientific Advisory Board of RD-Connect.

David Koubi

Finovatis

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.

Séverine Lair

Interactive Biosoftware

Séverine Lair is a bioinformatics engineer with expertise in biological and genomcis databases, NGS technologies and analyses in the field of biomedical research and genetics diagnosis and has an experience in bioinformatics project management.

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