At a Glance
  • Status: Active Consortium
  • Year Launched: 2013
  • Initiating Organization: RD-Connect
  • Initiator Type: Third-party organization
  • Rare disease
  • Disease focus:
    Rare Disease
  • Location: Europe
RD Connect


RD-Connect is a unique global infrastructure project that links databases, registries, biobanks, and clinical bioinformatics data used in rare disease research into a central resource for researchers worldwide. In a six-year project funded by the European Union but uniting researchers across the world, it will develop an integrated research platform in which complete clinical profiles are combined with “-omics” data and sample availability for rare disease research, in particular research funded under the International Rare Diseases Research Consortium (IRDiRC).


RD-Connect’s primary objectives are as follows:

Structure & Governance

RD-Connect is led by coordinator Hanns Lochmüller of Newcastle University.

The project’s Governing Board, consisting of one representative from each partner institution, is responsible for setting annual objectives and policy in accordance with the rules of the EC contract. The Governing Board provides legal and strategic oversight and ratifies any necessary changes to the consortium and workplan.

For operational management, the coordinator is supported by the Executive Management Committee and the coordination team in Newcastle.

Patient Engagement

The Patient Advisory Council (PAC) examines ethical, social, and participatory questions linked to research taking place in the context of RD-Connect, NeurOmics, and EURenOmics. This will ensure that all project activities have a patient-centric approach throughout. EURORDIS coordinates activities in respective projects with the PAC as well as invites its patient representatives to meetings and discussions.
Issues, concerns, or dilemmas brought forth by the PAC are addressed by the Rare Disease Patient and Ethics Council (RD-PEC) as well as all project partners. The PAC is composed of a multidisciplinary group of patients, parents, representatives of patients’ organizations, clinicians, legal academics, sociologists, scientists, and ethicists.

Data Sharing

All data- and material-sharing agreements should be ethically robust and mindful of the responsibilities owed to the donors to make best ethical use of the samples and data consistent with their consent.
The international charter of principles for sharing biospecimens and data provides guidance for effective legally and ethically grounded sharing and can be found on the RD-Connect website.

The charter is inspired by the following principles:

Points of Contact

RD-Connect Coordination Team
Institute of Genetic Medicine
University of Newcastle upon Tyne
International Centre for Life
Newcastle upon Tyne
United Kingdom
Emma Heslop (Project Manager)
phone: +44 191 241 8621
fax: +44 191 241 8770

Sponsors & Partners

Aix-Marseille University Medical School

Association Francaise contre les Myopathies

Banco Nacional de ADN-University of Salamanca


Centro de Investigacion Biomedica En Red de Enfermedades Raras (CIBERER)

Centro Nacional de Analisis Genomico

Centro Nacional de Investigaciones Oncologicas

Charles University

Children’s National Medical Center

Consiglio Nazionale delle Ricerche


European Bioinformatics Institute

European HD Network

European Organisation for Rare Diseases


Fondation maladies rares

Fondazione Telethon

Foundation for Research and Technology – Hellas

Genzyme Europe BV

Glaxo SmithKline

Innolyst, Inc. Patient Crossroads

Institut d’Investigacions Biomediques August Pi I Sunyer

Institute of Molecular Genetics and Genetic Engineering University of Belgrade

Instituto de Salud Carlos III

Interactive Biosoftware

Istituto Superiore di Sanita

Karolinska Institutet

Leiden University Medical Center


Medical University of Graz

Murdoch University

National Center for Neurlogy & Psychiatry

National Institute of Environmental Health

National Institutes of Health, Office of Rare Diseases Research

NGRL Manchester

Office of Population Health Genomics

Orphan Europe Recordati Group



Telethon Network of Genetic Biobanks

University Hospital of Ulm

University Medical Center Groningen

University of Aveiro

University of Gottingen

University of Leicester

University of Malta

University of Newcastle upon Tyne

University of Paris Diderot – Paris 7

University of Patras

University of Washington GeneReviews

University of Zurich

Uppsala University

Last Updated: 04/22/2016

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