Why rare disease research matters
For many years, EURORDIS has advocated for more and better research on rare diseases by describing the needs of patients and explaining the added value of coordinating research efforts at the European level. EURORDIS has had the opportunity to provide the European Commission with specific recommendations that reflect the needs of RD patients. These needs and priorities are already summarised in previous EURORDIS’ Position Papers and reflected in the Commission Communication on Rare Diseases, the Council Recommendation for Action in the field of Rare Diseases, and the European Commission Research Framework programmes.
The rationale of a specific response on RD research is the same as the one used in advocating for equal access to quality care and treatments as other patients in Europe. It is based on the principles of equality, social justice and solidarity: each calls for accrued action in favour of vulnerable members of society, in this case RD patients.
The field of RD research is one in which the benefits of specific and targeted coordination and collaboration are obvious and pressing, owing to the low individual prevalence of RDs, their complexity and multidisciplinary approach, the scattered nature of current research projects and the scarcity of the information about each of them. Traditional funding mechanisms based on natural market conditions and public funds are not adapted to the reality of RD research requirements. Specific public funding, strategy and actions for RD research are an imperative.
It should be pointed out that there has been a blossoming of biotechnology in the field of medicine, thanks in part to incentives included in the 1999 EU Regulation on Orphan Drugs. The EC has also recognised RD research as a priority, as reflected in its Research and Development Framework programmes. All this enhances EU competitiveness in a knowledge-based society. Despite these efforts, gaps in the field of RD research remain.
Research on rare diseases can have positive consequences for the wider community by advancing medical research in general. Scientific and medical progress offers new opportunities in the field of rare disease research; rare diseases have in turn made major contributions to research and treatment discoveries for more common diseases. Moreover, RD research is at the forefront of innovative techniques and new approaches to medicines, such as personalised medicine.
Furthermore, research on RDs is a laboratory for new health care policies. The work done on RD centres of expertise and European reference networks are leading the way towards a new organisation of health systems which optimises the use of existing resources.
Last but not least, the burden of rare diseases in terms of suffering and human life loss is enormous. Similarly, there is great savings in healthcare costs from timely diagnosis and correct treatment. A patient affected by a rare disease, when properly treated, stops being a consumer of expensive and ineffective treatment and becomes a citizen contributing more actively to society.
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This article was first published in the April 2010 issue of the EURORDIS newsletter
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