Rare Diseases Epidemiology Research: The State-of-the-Art and Future Perspectives

Dear colleagues,

Rare diseases, as the name suggest, incorporate a statistical definition. This means that a single rare disease affects a small number of the population (less than 5 person per 10,000 citizens in Europe). But from medical point of view, there is not a unique definition: for health care providers rare diseases are complex and heterogeneous mosaic of an estimated 5000–8000 conditions with low knowledge like natural history, delay of diagnosis bottlenecks in drug development, prevention treatment and epidemiological data.

Although, The European Union has put much effort into funding rare diseases research and setting up European Reference Networks (ERN) to tackle rare diseases and complex conditions, it is important to understand that the burden of rare diseases continues to be public health priority.

At the heart of these efforts, is data generation gathered from well structured epidemiological research studies. Higher-volume and higher-variety of data are increasingly made available online and there is a need to better interpreted and managed them.

This special issue of International Journal of Environmental Research and Public Health (IJERPH) aim to present:

1. excellent research activities working on a particular rare disease, to improve epidemiology, to understand and facilitate diagnosis, and develop new therapies for rare diseases
2. model of high-quality, cost-effective healthcare, including prevention
3. relevant source of information system available for rare diseases (example registries, shared knowledge platforms, research network)
4. key rare diseases policy documents and legislation
5. tools, standards, guidelines and data sharing that adheres to the interoperability principles
6. case study of active involvement of patient as partner and as expert in epidemiological research studies.

Papers addressing these topics are invited for this Special Issue, with the overall aim not only map the state of art but also outline likely future developments in this rapidly developing field of complex medicine, such as rare diseases.

Dr. Yllka Kodra
Guest Editor

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