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Harnessing the potential of human population genetics research to improve the quality of the EU citizen

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Mapping the origin of human diseases

Population genetics are used for detecting the causative factors of major human diseases. Europe is focusing on an integrative and cooperative approach in order to transform this information into therapeutic strategies.

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Human genetic epidemiology and population genetics provide essential knowledge on human diseases and hence improvement of public health. The European Union and associated members in the European Research Area (ERA) are promoting and supporting research in these two fields based on recent technological advances. Despite systematic efforts, there are still many drawbacks, which include limited resources and low population coverage mainly due to the national character of the studies. The European Union, in order to be established as a global leader in human genetic epidemiology, initiated the EU-funded project Euhealthgen. The major scope of this project was to bring together the existing research in the field across ERA through the organisation of an international conference. A crucial initial step was the establishment of a network of national and international research groups, which determined the current advances and limitations of the available technologies. The network developed an inclusive strategy for the translation of the information of population genetics into clinically useful innovations for the improvement of public health. An international conference, organised as the basic element of the network, was titled 'From biobanks to biomarkers – Translating the potential of human population genetics research to improve the quality of health of the EU citizen'. Among other hot topics, the top researchers in the field determined three to be of highest priority. These topics include the expectations and goals for industry and healthcare, the future needs for resources and tools for statistical analysis, and the research directions for the development of novel technologies and biomarkers. Extensive discussions on these topics led to important conclusions. There is a profound need to expand the research capacity regarding scientists and tools to support population genetics. New and already established researchers need to expand their expertise through additional training in relevant disciplines and especially in statistical genetics. Furthermore, new biobanks in different countries and improvement of the networking of existing ones are among the objectives of the Euhealthgen consortium. The ultimate goal of these actions would be the establishment of appropriate EU standards and guidelines that will utilise the integration of population genetics into clinical trials. In addition, the development of new drug and diagnostics approval procedures will be promoted. Organised resources within a network by the Euhealthgen consortium will be under the coordination of translational and multidisciplinary research collaboration between academia, health service providers, industry and governments. The continuation and maintenance of this network is of vital importance in order to achieve effective clinical applications. The Euhealthgen network initiated and promoted the establishment of a robust infrastructure in ERA for research on fundamental genomics, translational research and health services research.

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