Why rare disease research matters?
Why invest in rare disease research? This is the basic premise behind a position paper that EURORDIS is currently working on. 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 FP6 and FP7.
Today, EURORDIS is taking action to remind those policy makers who know, and educate those who are not yet aware, of the disadvantages faced in the field of RD research, the interest of RD research, and the added value of allocating a specific research budget to this broad group of diseases . A first Discussion Paper on this subject was presented to researchers and policy makers on the occasion of
Rare Disease Day European Workshop in Brussels on 1
st March. EURORDIS is taking the time to consult broadly its patient group members, as well as scientific leaders and key partners in order for it to become a reference Position Paper.
“While being clearly identified as a research priority area in the Commission Communication and Council Recommendation on Rare Diseases, we are still far from addressing patients needs. In the midst of the 7th Research FP and in preparation of FP 8, and while working on national plans in all Member states”, explains EURORDIS CEO Yann Le Cam, “We are more than ever urged to make the case of rare disease research and to promote RD research higher and higher in the EU and national agendas; and to give RD research the budget and the attention it deserves.”
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 compared to 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 now an imperative.
It should be pointed out that there has been a blossoming of biotech technology in recent years, thanks in part to incentives included in the 1999 EU Regulation on Orphan Drugs. Since FP6, the EC has also recognised RD research as a priority, as reflected in its latest 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.
Rare diseases can have positive consequences for the wider community. Research on rare diseases advances 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 term of suffering and human life loss is enormous. Similarly, let’s not forget the savings in healthcare costs of 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.
All of the reasons described above call for more targeted public funding to boost research in the field of rare disease research.
“Experience has shown that current efforts do not suffice. Public funding must be based on an understanding of the specific needs in the advancement of RD research,” argues EURORDIS’ CEO Yann Le Cam. “So it should follow that specific budgets and policy strategies for RD research need to be created”.
For more information:
Read the Position Papers:
This article was first published in the April 2010 issue of the EURORDIS newsletter
Author: Paloma Tejada
Photo credits: © Inserm
Page created: 21/03/2010
Page last updated: 05/10/2011
