E-Rare

Basic Information

Description

There are at least 6000 to 7000 distinct rare diseases, the great majority of them being of genetic origin. Although individually rare, taken together, rare diseases affect at least 20 million of persons in Europe. They represent a major issue in health care since a large percentage of these diseases lead to a significant decrease of life expectancy, and most of them cause chronic illness with a large impact on quality of life and the health care system.
Therefore further research on rare diseases is badly needed but is hampered by lack of resources at several levels.
(1) Few scientists work on one specific disease.
(2) There are few patients scattered over a large geographic area, causing difficulties to gather cohorts required for studies.
(3) Usually existing databases and material collections are local, small, and not accessible or standardised.
(4) Diseases often have complex clinical phenotypes and require interdisciplinary approaches to treatment and interdisciplinary cooperation for research.
Due to the small number of patients affected by a specific rare disease and fragmentation of research, efforts in each individual European country are obviously limited in objectives and power. Therefore rare diseases are a prime example of a research area that could strongly profit from coordination on a transnational scale. The European research area should be enabled to realize its potential by reorganizing and combining scientific expertise, research infrastructure, well defined patient cohorts and biological material. Nine partners have thus decided to join their efforts to overcome the inherent difficulties of research on rare diseases. The general goal E-Rare is to coordinate existing programmes and to prepare joint and strategic activities to overcome some of the limitations imposed by scattered funding and fragmentation between national research programmes.