Dr Ségolène Aymé
Orphanet - INSERM SC11
102 rue Didot
75014 Paris
France
ayme@orpha.net

Rare diseases concern 25?30 million European patients. Rare diseases affect small patient populations and have scarce health professional expertise and limited knowledge. Solutions can only be expected at the European level to share expertise and resources.

There are three main areas where action was taken at the EU level: public health, research and regulation of drug development.
In the field of public health, the EC, using its current health policy mandate and resources, has decided to stimulate greater access to information on rare diseases in order to revamp the healthcare system based on current knowledge and local experience, by comparing, identifying and disseminating good practices and networking leverage.

During three years funding was given to a set of initiatives in this field which led to the establishment of successful disease-bound networks, to the EU extension of Orphanet which is a public database of rare diseases and orphan drugs and to the development of Eurordis activities to better serve the disease specific support groups action.

Although the specific programme dedicated to rare disease is over now, access to funding is still possible for initiatives in the field of information. A task force has been established recently to help coordinate efforts and advise the European Commission in this field.
In the field of research, since 1994, rare diseases have been one of the European Commission's research priorities.

The funding programmes have supported research in this area providing 24.25 Million EUR between 1994 and 2003. This money was devoted to funding basic research into the genetics origin of these diseases and in supporting research networks and research infrastructures. Because of the better understanding of the human genes action, the potential for diagnosis and therapy has improved considerably in the past ten years. The newly launched programme (FP6) has already accepted to finance 13 new large projects, among which orphanplatform which is a platform of service to speed up the development of therapeutic solutions.

In the field of drug development, as patients with rare diseases have the same right to treatment as patients with more prevalent diseases, ways were sought to stimulate private industry to develop such products. They have proved to be very effective. This aspect will be presented by an other speaker.

In addition to the EU initiatives, several EU countries have started to build up a framework for better serve the patients, and boost research. Spain is among the most active countries.