Strategic relevance and contribution to the EU Health Programme
This project supports equal access to genetic testing, education of health professionals, and empowerment of patients. (Council Recommendation on rare diseases); adequate inventorying of WABB diseases (Section II); supporting research (Section III); development of centres of expertise (Section IV); gathering expertise at European level (section V); empowering patient organizations as partners (Section VI); developing sustainability by underpinning a future European Reference Network for WABB diseases (Section VII); supporting the High Level Pharmaceutical Forum Recommendations (2008); and supporting improvement in health outcomes, a key Lisbon Strategy indicator.
The contribution to the programme is through: a) increased knowledge on these rare diseases by pooling together data on larger number of patients; b) support for research by allowing access to investigators for epidemiological, clinical, genetic and interventional studies; c) effective dissemination of results via Orphanet; d) advocacy for improved quality of services via EURORDIS; e)balanced participation.
There will be a step change in volume and quality of clinical research in WABB diseases. The registry will be also be transferable to scientists exploring the mechanisms underlying common diabetes and obesity. This will change our understanding of these rare disorders through increased knowledge of the natural history and genotype phenotype relations informing prognosis. WABB disorders will have increased visibility to the research and health provider communities through Orphanet and EURORDIS.
There will be a change in clinical effectiveness of services for people affected by WABB disorders. The registry will provide data for assessing the clinical effectiveness and cost-effectiveness of standard care and new interventions in a real-world setting. This will lead to improvements in quality of care. The Registry will identify disparities between health care outcomes and provide evidence for health service providers for improvements.