RD-Connect is a collaborative work of a number of partners working on eight different aspects (work packages) of developing the rare disease research infrastructure. The work of RD-Connect works across the EU, with different working teams based in different countries.
Coordination and Management
The RD-Connect coordination office, lead by Prof. Hanns Lochmüller, is based at the Newcastle University in the UK. The coordination team lead on the strategic direction of the project, along with being responsible for financial and communication activities. For general enquiries, please contact the project manager Libby Wood.
The work on linking up rare disease patient registries across the world, lead by Domenica Taruscio, is conducted by teams at the Istituto Superiore di Sanità in Rome, Italy and Medical University of Graz, Austria. They have developed Registry&Biobank Finder, a global directory of patient registries and biobank for rare disease research. To support data exchange, the team has developed standards of data interoperability for patient registries.
The biobank team at the Fondazione Telethon in Milan, Italy, lead by Dr Lucia Monaco, and University Medical Center Groningen, the Netherlands, focus on connecting biobanks and developing the RD-Connect Sample Catalogue, which allows researchers browse individual biosamples. They works closely with the patient registry team, to integrate information on the existing biobanks and patient registries in the common Registry & Biobank Finder. Read more>>
The RD-Connect partners in the Netherlands (Leiden University Medical Center and University Medical Center Groningen) focus on the technical aspect of linking different types of data between institutions across countries. The Data Linkage Plan implements the FAIR (Findable, Accessible, Interoperable, Reusable) principles to allow queries and analyses on different data sources without the requirement to bring these data physically together. The team collaborates closely with the patient registry, biobanks and Genome-Phenome Analysis Platform teams.
Genomne-Phenome Analysis Platform
The team lead by Dr Ivo Gut at the Centro Nacional de Análisis Genómico in Barcelona, Spain, is developing an online platform that enables the users to analyse next-generation sequencing data and connect them to clinical information. The work is coordinated by Sergi Beltran Agulló. Read more>>
To enable novel types of analysis of next-generation sequencing data, several bioinformatics teams working in RD-Connect, are developing a number of innovative bioinformatics tools. Read more>>
Ethical, Legal and Social Issues (ELSI)
To ensure protection patient privacy without compromising research and drug discovery, the team of ethicists and lawyers lead by Prof. Mats Hansson at the Centrum För Forsknings- & Bioetik of the Uppsala University, Sweden, provides guidance to researchers and work on the most appropriate models for data sharing. The ELSI work also includes the interdisciplinary Rare Disease Patients Ethics Council. Read more>>
Science Communication and Impact
Ensuring that the work of RD-Connect has an impact on research, diagnosis and the quality of life of patients is the focus of the Impact team, lead by Prof. Kate Bushby at the Newcastle University, UK. The work on RD-Connect monthly newsletters, website, media and other dissemination channels is coordinated by Dr Dorota Badowska.
Patient engagement in RD-Connect is coordinated by Dr Virginie Bros-Facer from the European Rare Diseases Organisation EURORDIS. The Patient Advisory Council informs the project partners of issues important to patients, which allows ensuring that all project activities have a patient-centric approach throughout. Read more>>