- Data Access Committee (DAC)
- Executive Management Committee (EMC)
- Scientific Advisory Board (SAB)
- Patient Advisory Council (PAC)
- The Rare Disease Patient and Ethics Council (RD-PEC)
- Panel for Biobank Assessment (PAB)
Data Access Committee (DAC)
The Data Access Committee (DAC) is responsible for reviewing all requests for user accounts for the RD-Connect GPAP and to rule on circumstances regarding user's actions in the platform.
Position: Senior Scientitst / Professot of Neurology
Position: Director of CNAG
Position: Research Infrastructure Project Manager
Organisation: EURORDIS – Rare Diseases Europe
Position: Head of Research Impact and Strategic Analysis at Fondazione Telethon
Organisation: Fondazione Telethon
Executive Management Committee (EMC)
The Executive Management Committee (EMC) consisted of work package leaders and was responsible for the day-to-day operational management of the project alongside the coordination team.
Ivo Gut
Position: Director of CNAG
Area of work: Genomics Platform, Management
CONTACT
Libby Wood
Position: RD-Connect Project Manager
Organisation: Newcastle University
Area of work: Management
MEMBERS
Christophe Béroud
Position: Assistant Professor of Genetics, head of the bioinformatics team at the UMR_S 910 research unit
Organisation: Aix-Marseille University Medical School
Area of work: Bioinformatics
Virginie Bros-Facer
Position: Research Infrastructure Project Manager
Organisation: EURORDIS – Rare Diseases Europe
Area of work: Patient engagement
Kate Bushby
Position: Professor of Neuromuscular Genetics
Organisation: Newcastle University
Area of work: Impact
Hugh Dawkins
Position: Director
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Registries
Mats Hansson
Position: Professor of Biomedical Ethics
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues
Peter-Bram ’t Hoen
Position: Associate professor at Leiden University Medical Center
Organisation: Leiden University Medical Center
Area of work: Data linkage
David Koubi
Position: Chief Executive Officer
Organisation: Finovatis
Area of work: Management
Lucia Monaco
Position: Head of Research Impact and Strategic Analysis at Fondazione Telethon
Organisation: Fondazione Telethon
Area of work: Biobanks
Domenica Taruscio
Position: Director
Organisation: Istituto Superiore di Sanità (ISS)
Area of work: Registries
Scientific Advisory Board (SAB)
The Scientific Advisory Board (SAB) consisted of independent experts recognised for their expertise in the field of the project. SAB members were invited to annual meetings and provided unbiased advice to help ensure RD-Connect met its objectives.
CHAIR
Bartha Knoppers
Position: Director of the Centre of Genomics and Policy
Organisation: McGill University
Area of work: Ethical Legal Social Issues
MEMBERS
Larry Hunter
Position: Director, Center for Computational Pharmacology & Computational Bioscience Program
Organisation: University of Colorado Denver
Area of work: Bioinformatics
Joseph Irwin
Position: Member of SMA Support UK
Organisation: Lakeside Regulatory Consulting Services Ltd.
Area of work: Ethical Legal Social Issues
Per Nilsson
Position: Independent advisor
Organisation: unaffiliated
Olaf Riess
Position: Head of the Institute of Medical Genetics and Applied Genomics
Organisation: Universitätsklinikum Tübingen
Peter Robinson
Position: Professor of Computational Biology
Organisation: Jackson Laboratory for Genomic Medicine
Area of work: Data linkage
Franz Schaefer
Position: Head of Division of Paediatric Nephrology and KFH Children’s Kidney Center
Organisation: Universitätsklinikum Heidelberg
Lincoln Stein
Position: Platform Leader, Informatics and Bio-computing
Organisation: Ontario Institute for Cancer Research
Area of work: Bioinformatics
Patient Advisory Council (PAC)
The PAC is a group consisted of patients and patient representatives formed to inform other RD-Connect members of issues important to patients. Issues, concerns or dilemmas brought forth by the PAC were addressed by the Rare Disease Patient and Ethics Council (RD-PEC) as well as all project partners.
Virginie Bros-Facer
Position: Research Infrastructure Project Manager
Area of work: Patient engagement
Stefan Deckert
Position: Member of DHAG , DHAG-Representative for Neuromics Project
Organisation: Deutsche-Heredo-Ataxie-Gesellschaft (DHAG)
Area of work: Patient engagement
Muriel Gevrey
Organisation: CMT France
Area of work: Patient engagement
Joseph Irwin
Position: Member of SMA Support UK
Organisation: Lakeside Regulatory Consulting Services Ltd.
Area of work: Ethical Legal Social Issues, Impact, Patient engagement
Julian Isla
Position: Founder and Chairman
Organisation: Dravet Syndrome Foundation
Area of work: Patient engagement
Sigurður Hólmar Jóhannesson
Position: President of AHC Federation of Europe
Organisation: AHC Federation of Europe
Area of work: Patient engagement
Lydie Lemonnier
Position: Registry Manager
Organisation: Vaincre la Mucoviscidose
Area of work: Patient engagement
Dorthe Lykke
Organisation: Euro HSP
Area of work: Patient engagement
Kay Parkinson
Organisation: Alstrom Syndrome UK
Area of work: Ethical Legal Social Issues, Patient engagement
Veronica Popa
Position: Allan-Herndon-Dudley Patient Advocate
Organisation: unaffiliated
Area of work: Patient engagement
Daniel Renault
Position: Coordinator
Organisation: FEDERG Initiative
Area of work: Ethical Legal Social Issues, Patient engagement
Françoise Rouault
Organisation: Association Française contre les Myopathies (AFM)
Area of work: Patient engagement
Inge Schwersenz
Organisation: Deutsche Gesellschaft fuer Muskelkranke (DGM), Initiative SMA
Area of work: Ethical Legal Social Issues, Patient engagement
Chris Sotirelis
Position: Patient advocate
Organisation: unaffiliated
Area of work: Ethical Legal Social Issues, Patient engagement
Marieke van Meel
Organisation: NephcEurope Foundation
Area of work: Biobanks, Ethical Legal Social Issues, Patient engagement
Rainald von Gizycki
Position: Honorary President
Organisation: PRO RETINA Deutschland e.V.
Area of work: Patient engagement
Elizabeth Vroom
Organisation: unaffiliated
Area of work: Patient engagement
Rare Disease Patient and Ethics Council (RD-PEC)
The Rare Disease Patient and Ethics Council (RD-PEC) examined ethical, social and participatory questions linked to research in the context of RD-Connect, and its partner projects NeurOmics and EURenOmics.
Pauline McCormack
Position: Senior Lecturer
Area of work: Ethical Legal Social Issues
Joseph Irwin
Position: Member of SMA Support UK
Organisation: Lakeside Regulatory Consulting Services Ltd.
Area of work: Ethical Legal Social Issues
Chantal Loirat
Position: Professor
Organisation: Hôpital Robert Debré
Area of work: Ethical Legal Social Issues
Milan Macek
Position: Head of Department of Biology and Medical Genetics
Organisation: Charles University
Area of work: Impact, Registries
Deborah Mascalzoni
Position: Researcher
Organisation: Uppsala University
Area of work: Ethical Legal Social Issues
Caron Molster
Organisation: Office of Population Health Genomics (OPHG)
Area of work: Bioinformatics, Ethical Legal Social Issues, Registries
Daniel Renault
Position: Coordinator
Organisation: FEDERG Initiative
Area of work: Ethical Legal Social Issues
Inge Schwersenz
Organisation: Deutsche Gesellschaft fuer Muskelkranke (DGM), Initiative SMA
Area of work: Ethical Legal Social Issues
Chris Sotirelis
Position: Patient advocate
Organisation: unaffiliated
Area of work: Ethical Legal Social Issues, Patient engagement
Marieke van Meel
Organisation: NephcEurope Foundation
Area of work: Biobanks, Ethical Legal Social Issues
Simon Woods
Position: Senior Lecturer and Co-Director PEALS
Organisation: Newcastle University
Area of work: Ethical Legal Social Issues
Panel for Biobank Assessment (PBA)
The Panel for Biobank Assessment reviewed the applications of candidate biobanks that wanted to submit their sample information in the RD-Connect Sample Catalogue. The panel considered them against a set of criteria to ensure they met minimum quality assurance.
María Almeida
Organisation: National DNA Bank-Carlos III. University of Salamanca
Javier Alonso
Organisation: Instituto de Salud Carlos III
Verónica Alonso
Organisation: Instituto de Salud Carlos III
Corrado Angelini
Organisation: Telethon Network of Genetic Biobanks
Dorota Badowska
Organisation: Newcastle University
Chiara Baldo
Organisation: Telethon Network of Genetic Biobanks
Katharina Beier
Organisation: University Medical Center Göttingen
Matt Bellgard
Organisation: Centre for Comparative Genomics, Murdoch University
Sergi Beltran Agulló
Organisation: Centro Nacional de Análisis Genómico
Christophe Béroud
Organisation: Aix-Marseille University Medical School
Nenad Blau
Organisation: University of Zurich
André Blavier
Organisation: Interactive Biosoftware
Niklas Blomberg
Organisation: ELIXIR
Kym Boycott
Organisation: CARE4RARE
Serge Braun
Organisation: Association Française contre les Myopathies (AFM)
Elena Bravo
Organisation: Istituto Superiore di Sanità (ISS)
Anthony J Brookes
Organisation: University of Leicester
Virginie Bros-Facer
Organisation: EURORDIS – Rare Diseases Europe
Michael Brudno
Organisation: The Centre for Computational Medicine, Hospital for Sick Children, Toronto
Kate Bushby
Organisation: Newcastle University
Claudio Carta
Organisation: Istituto Superiore di Sanità (ISS)
Jean-Jacques Cassiman
Organisation: Jean-Jacques Cassiman
Gwenaëlle Collod-Beroud
Organisation: Aix-Marseille University Medical School
Virginia Corrochano
Organisation: Centre for Biomedical Network Research on Rare Diseases
Hugh Dawkins
Organisation: Office of Population Health Genomics (OPHG)
John Dawson
Organisation: Newcastle University
Stefan Deckert
Organisation: Deutsche-Heredo-Ataxie-Gesellschaft (DHAG)
Sébastien Degot
Organisation: Finovatis
Andrew Devereau
Organisation: National Genetics Reference Laboratory Manchester
Roseline Favresse
Organisation: Fondation Maladies Rares
Alexander Felice
Organisation: University of Malta
José María Fernández
Organisation: Barcelona Supercomputing Center (BSC)
Mirella Filocamo
Organisation: Telethon Network of Genetic Biobanks
Alexandra Fiott
Organisation: University of Malta
Paul Flicek
Organisation: European Bioinformatics Institute
Martin Fransson
Organisation: Karolinska Institutet
Sabina Gainotti
Organisation: Istituto Superiore di Sanità (ISS)
Barbara Garavaglia
Organisation: Telethon Network of Genetic Biobanks
Andrés García-Montero
Organisation: National DNA Bank-Carlos III. University of Salamanca
Muriel Gevrey
Organisation: CMT France
Marta Girdea
Organisation: The Centre for Computational Medicine, Hospital for Sick Children, Toronto
Stefano Goldwurm
Organisation: Stefano Goldwurm
Caroline Graham
Organisation: Office of Population Health Genomics (OPHG)
Tudor Groza
Organisation: Garvan Institute of Medical Research
Ivo Gut
Organisation: Centro Nacional de Análisis Genómico
Marc Hanauer
Organisation: INSERM US14 – Orphanet
Mats Hansson
Organisation: Uppsala University
Isabel Hermosilla Gimeno
Organisation: Instituto de Salud Carlos III
Kristina Hettne
Organisation: Leiden University Medical Center
Peter-Bram ’t Hoen
Organisation: Leiden University Medical Center
Eric P Hoffman
Organisation: Children’s National Medical Center
Larry Hunter
Organisation: University of Colorado Denver
Joseph Irwin
Organisation: Lakeside Regulatory Consulting Services Ltd.
Julian Isla
Organisation: Dravet Syndrome Foundation
Annika Jacobsen
Organisation: Leiden University Medical Center
Sigurður Hólmar Jóhannesson
Organisation: AHC Federation of Europe
Eleni Katsantoni
Organisation: Biomedical Research Foundation of Academy of Athens
Theodora Katsila
Organisation: University of Patras
Jan Kirschner
Organisation: Universitätsklinikum Freiburg
Bartha Knoppers
Organisation: McGill University
Yllka Kodra
Organisation: Istituto Superiore di Sanità (ISS)
David Koubi
Organisation: Finovatis
Séverine Lair
Organisation: Interactive Biosoftware
Steven Laurie
Organisation: Centro Nacional de Análisis Genómico
Yann Le Cam
Organisation: EURORDIS – Rare Diseases Europe
Lydie Lemonnier
Organisation: Vaincre la Mucoviscidose
Jan-Eric Litton
Organisation: Karolinska Institutet
Hanns Lochmüller
Organisation: Centro Nacional de Análisis Genómico
Pedro Lopes
Organisation: University of Aveiro
Estrella López Martín
Organisation: Instituto de Salud Carlos III
Dorthe Lykke
Organisation: Euro HSP
Milan Macek
Organisation: Charles University
Alex MacKenzie
Organisation: CARE4RARE
Deborah Mascalzoni
Organisation: Uppsala University
Pauline McCormack
Organisation: Newcastle University
Alexandre Mejat
Organisation: EURORDIS – Rare Diseases Europe
Roxana Merino Martinez
Organisation: Karolinska Institutet
Giuseppe Merla
Organisation: Telethon Network of Genetic Biobanks
Clint Mizzi
Organisation: University of Malta
Maurizio Moggio
Organisation: Telethon Network of Genetic Biobanks
Caron Molster
Organisation: Office of Population Health Genomics (OPHG)
Lucia Monaco
Organisation: Fondazione Telethon
Marina Mora
Organisation: Telethon Network of Genetic Biobanks
Per Nilsson
Organisation: unaffiliated
Ichizo Nishino
Organisation: National Center of Neurology & Psychiatry (NCNP)
José Luis Oliveira
Organisation: University of Aveiro
Alberto Orfao
Organisation: National DNA Bank-Carlos III. University of Salamanca
Michael Orth
Organisation: University Hospital of Ulm
Meral Özgüç
Organisation: Hacettepe University
Francesc Palau
Organisation: Centre for Biomedical Network Research on Rare Diseases
Avril Palmeri
Organisation: Newcastle University
Samantha Parker
Organisation: LYSOGENE
Kay Parkinson
Organisation: Alstrom Syndrome UK
Justin Paschall
Organisation: European Bioinformatics Institute
George Patrinos
Organisation: University of Patras
Sonja Pavlovic
Organisation: Institute of Molecular Genetics and Genetic Engineering University of Belgrade (IMGGE)
Vinciane Pirard
Organisation: Genzyme Europe B.V.
Davide Piscia
Organisation: Centro Nacional de Análisis Genómico
Luisa Politano
Organisation: Telethon Network of Genetic Biobanks
Veronica Popa
Organisation: MCT8-AHDS Foundation
Manuel Posada
Organisation: Instituto de Salud Carlos III
George Potamias
Organisation: Foundation for Research and Technology – Hellas (FORTH)
Maria Ramos
Organisation: Maria Ramos
Vanessa Rangel Miller
Organisation: PatientCrossroads
Ana Rath
Organisation: INSERM US14 – Orphanet
Daniel Renault
Organisation: FEDERG Initiative
Alessandra Renieri
Organisation: Telethon Network of Genetic Biobanks
Olaf Riess
Organisation: Universitätsklinikum Tübingen
Peter Robinson
Organisation: Jackson Laboratory for Genomic Medicine
Marco Roos
Organisation: Leiden University Medical Center
Françoise Rouault
Organisation: Association Française contre les Myopathies (AFM)
Yaffa Rubinstein
Organisation: Yaffa Rubinstein
Ulla Rudsander
Organisation: Karolinska Institutet
David Salgado
Organisation: Aix-Marseille University Medical School
Franz Schaefer
Organisation: Universitätsklinikum Heidelberg
Inge Schwersenz
Organisation: Deutsche Gesellschaft fuer Muskelkranke (DGM), Initiative SMA
Pedro Sernadela
Organisation: University of Aveiro
Chris Sotirelis
Organisation: unaffiliated
Lincoln Stein
Organisation: Ontario Institute for Cancer Research
Erik Steinfelder
Organisation: Erik Steinfelder
Morris Swertz
Organisation: University Medical Center Groningen (UMCG)
Domenica Taruscio
Organisation: Istituto Superiore di Sanità (ISS)
Jan Taylor
Organisation: National Genetics Reference Laboratory Manchester
Rachel Thompson
Organisation: Newcastle University
Paola Torreri
Organisation: Istituto Superiore di Sanità (ISS)
Alfonso Valencia
Organisation: Barcelona Supercomputing Center (BSC)
David van Enckevort
Organisation: University Medical Center Groningen (UMCG)
Marieke van Meel
Organisation: NephcEurope Foundation
Joanna Vella
Organisation: University of Malta
Jennifer Viberg
Organisation: Uppsala University
Ana Villaverde Hueso
Organisation: Instituto de Salud Carlos III
Rainald von Gizycki
Organisation: PRO RETINA Deutschland e.V.
Elizabeth Vroom
Organisation: unaffiliated
Mary Wang
Organisation: Fondazione Telethon
Libby Wood
Organisation: Newcastle University
Simon Woods
Organisation: Newcastle University
Kurt Zatloukal
Organisation: Medical University of Graz
