Committees RD-Connect Project 2012-2018

- 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.

Hanns Lochmuller
Position: Senior Scientitst / Professot of Neurology
Organisation: Children's Hospital of Eastern Ontario
 
Ivo Gut
Position: Director of CNAG
Organisation: Centro Nacional de Análisis Genómico
 
Virginie Bros-Facer
Position: Research Infrastructure Project Manager
Organisation: EURORDIS – Rare Diseases Europe
 
Lucia Monaco
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.

CHAIR
Ivo Gut
Position: Director of CNAG
Organisation: Centro Nacional de Análisis Genómico
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.

CHAIR
Virginie Bros-Facer
Position: Research Infrastructure Project Manager
Organisation: EURORDIS – Rare Diseases Europe
Area of work: Patient engagement
 
MEMBERS

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.

CHAIR
Pauline McCormack
Position: Senior Lecturer
Organisation: Newcastle University
Area of work: Ethical Legal Social Issues
 
MEMBERS

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

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