Connecting Rare Disease Researchers through Integrated Data
This year's RD-Connect annual meeting, which took place in Palma de Mallorca in early March, updated project partners on over two years of progress in developing an integrated research platform. This platform combines clinical profiles with genomic data and also biological sample availability to support rare disease research that is funded under the International Rare Diseases Research Consortium (IRDiRC). The data currently comes from two European projects, Neuromics and EURenOmics, but will ultimately unite researchers around the world.
In addition to creating a central data platform to be used in rare disease research, RD-Connect is developing tools to analyse this data so as to allow for new discoveries in disease understanding and ultimately better diagnosis and treatment development for patients.
As discussed at this year's annual meeting, progress has been made in the technical set-up of the project:
The structure of the integrated platform will be officially open to receive data mid-2015. Many of the data analysis tools have also been developed. Work remains to integrate them and make them accessible through a user interface.
A data sharing charter and informed consent guidelines have been drafted as part of the wider ethical framework for the project.
EURORDIS' role is to bring the patient perspective to the project and to chair the project's working group, the RD-Patient Advisory Council (RD-PAC). Through the RD-PAC, EURORDIS works to ensure that the project meets patient interests on issues such as protection of patient data.
Anna Kole, EURORDIS Registry and Biobank Projects Manager, serves on the Executive Management Committee of RD-Connect. She commented, "This project remains a highly complicated IT platform with ultimately profound results for patients. Our group has recognised that building the capacity of patients to understand such modern technologies in biobanking and genomics research requires a long-term commitment, which has already been initiated by many EURORDIS members within our working group."
Many decisions regarding project implementation are still to be made. The 2015 – 2016 RD-PAC work plan was presented during the meeting, the aims of which for the next year include:
To ensure the RD-PAC is well integrated into RD-Connect decision making beyond ethical, legal and social issues;
To communicate relevant project outcomes to a wider patient audience;
To communicate a unified patient view on issues such as data sharing, incidental findings, undiagnosed patients and the inclusion of children in biobanking systems and genomics research. To accomplish this final aim, EURORDIS will reach out to its Council of National Alliances and international partners to prioritise issues that are important to patients.
Eva Bearryman, Junior Communications Manager, EURORDIS