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.



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.


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.


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

Biobanks- och registerforskning: Etik och juridik

Vi har ägnat många år åt konstruktiv vägledning kring hanteringen av etiska och juridiska aspekter av forskning på mänskligt vävnadsmaterial och persondata. Vi samarbetar med biomedicinare och publicerar våra resultat i vetenskapliga tidskrifter.

Vi har sammanställt våra publikationer (med abstracts) i en rapport. Rapporten är på engelska och uppdaterades i juni 2016.

Ladda ner vårt rapport om biobanker och register

Biobank and registry ethics & law, rapportomslag