Centre for Research Ethics & Bioethics (CRB)

RD-Connect: Rare disese research

Despite examples of excellent practice, rare disease (RD) research is still mainly fragmented by data and disease types. Individual efforts have little interoperability and almost no systematic connection between detailed clinical and genetic information, biomaterial availability or research/trial datasets.

The project will build on and transform the current state-of-the-art across databases, registries, biobanks, bioinformatics, and ethical considerations to develop a quality-assured and comprehensive integrated hub/platform in which complete clinical profiles are combined with -omics data and sample availability for RD research.

RDConnect

Aims

RD-Connect aims to build an integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research.

CRB's role in RD-connect

We are responsible for a separate work package will address ethical, legal and social issues (ELSI) with the following objectives:

  1. Develop best ethical practices for balancing patient-related interests associated with RD research using databases/registries, biobanks and omics databases in global networks of clinicians and researchers.
  2. Engage with relevant stakeholders, e.g. patient organizations and patient groups, clinical and research networks, legislators and policymakers, pharma industry.
  3. Develop a proposal for an expedient regulatory framework for linking of medical and personal data related to RD on a European and global level.

Mission statement

WP6 will provide constructive contributions based on sound research in order to facilitate collaboration between scientists and different stakeholders when linking and sharing data and biomaterials for the benefit of patients with rare diseases while respecting their integrity and encouraging their active participation.

WP6 will acknowledge and explore ethical issues with rare disease patient interests in mind in order for RD-Connect to be a vehicle for identifying concerns and solutions of great significance also for other disease areas and for the development of personalised medicine.

Collaborators

RD-Connect is coordinated by Hanns Lochmüller at Newcastle University. The ELSI work package is lead by Mats Hansson with the biobank and registry team at CRB in collaboration with Pauline Mccormack and Simon Woods at PEALS in Newcastle, and Monica Ensini at EURORDIS in Paris.

Funding

EU 7th framework programmeThis project has received funding from the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement no 305444.

Contact at CRB

Visit the RD-Connect website

Biobank and registry ethics & law

For many years, researchers at CRB have provided constructive advise on how to deal with ethical and legal aspects of research using human tissue material and personal data. We have collaborated with biomedical scientists and published our findings in peer reviewed journals. As a summary of this research we have compiled a list of publications with abstracts. We have grouped them thematically to help you find the ones you might be interested in reading. Our publications deal with ethical frameworks and policy, regulatory aspects of biobank and registry research, informed consent, ethical review, integrity concerns, trust, genetic testing, indicental findings, commercialization, public and patient perceptions, rare diseases, children & biobanks & genetics, and biobank studies.

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Biobank and registry ethics & law, report