Medical Genome Research

Structural and functional analysis of the human genome offers unique possibilities to substantially understand function and contribution of genetic factors in terms of health and disease, as well as to determine the influence of environmental factors to disease-initiation. From that also the structure and function of proteins (proteomics), metabolism (metabolomics), and regulatory systems elements can be determined, that are responsible for normal or pathologic functions of cells and organs. This kind of analysis is enabled by the exploitation and development of high-throughput technologies (as e.g. new sequencing technologies). National, and increasingly also international research projects, pick up those developments to explore the causes of diseases.

At the same time the results from research subsumed under the term ‘Medical Genome Research’ provide crucial prerequisites for innovative products, methods and services in the pharmaceutical and health area. Thus, the identification of genes or gene products important for initiation or progression of diseases often marks the start of modern drug development. These molecular targets offer starting-points for the development of new medical components. The knowledge of disease-specific molecular alterations is a prerequisite for the development of improved diagnostic methods that allow earlier detection of diseases as well as better usage of non- or minimal-invasive examinations. Finally, the knowledge about the molecular genesis of diseases can be utilized for the development of cutting-edge therapies that are potentially more effective, with less side affects at the same time. Thus, findings and the technologies of ‘Medical Genome Research’ pave the way for a molecular and more personalized medicine. This will raise diagnosis, prevention and therapy of diseases to an advanced level in quality in the future.

With the implementation of a couple of funding measures in recent years the BMBF has substantially supported the establishment of an internationally renowned genome research scene in Germany. With the German Human Genome Project (DHGP 1995-2004) and the National Genome Research Network (NGFN-1 2001-2004, NGFN-2 2004-2008) human genome research and especially ‘Medical Genome Research’ in Germany has been supported with more than € 575 million. The research activities triggered by the DHGP were being continued and further expanded by creation of the NGFN. Synergies are generated through pursuit of common research interests among various research groups and through effective coordination. The approach to directly combine disease-oriented genome research with systematic high-throughput technologies was applied worldwide for the first time in the NGFN. Since then, it has already produced many outstanding research results relevant for diagnosis and therapy of the most common complex diseases. This successful work shall be continued by means of tailored research and funding measures. For this reason, the ‘Programme for Medical Genome Research’ has been launched in 2007. As part of the innovation strategy ‘Health Research and Medical Technology’, the programme of medical genome research supports the High-Tech Strategy of the German Federal Government as it forges collaboration and joint projects between German industry and science. To this end, the programme includes two complementary grant initiatives, namely NGFN-Plus and NGFN-Transfer, and international projects. For the programme the BMBF makes available more than € 156 million.

In NGFN-Plus ‘Integrated Genome Research Networks’ shall expand the understanding of molecular biological and pathophysiological processes in common diseases under a clinical aspect and create starting-points for the development of innovative methods and products for diagnosis and therapy. In each of the networks molecular-biological know-how and relevant clinical-medical expertise are combined under the leadership of an internationally renowned research institution. With this new funding measure, the effective network structure established in the NGFN is being consolidated and will be further improved by the implementation of interdisciplinary consortia that are strongly focussed on shared research aims. 26 networks are funded by the BMBF that primarily analyze cancer and diseases of the nervous system. In other networks, cardiovascular diseases, infection and inflammation, diseases linked to environmental factors are being investigated. For the next three years the consortia have access to about € 144 million; at the end of 2010 they can apply for a 2-year-extension of funding.

In the second initiative, ‘Innovation Alliances’ support the efficient transfer of scientific findings from medical genome research to medical and industrial application. Jointly, and in close cooperation, research companies, universities and other academic research institutions generate market-relevant and transferable innovations. A special feature and a prerequisite of this funding measure is a decisive industrial participation (‘joint leadership’ of academy and industry) in terms of steering and realization of the projects. In eight ‘Innovation Alliances’ nine working groups from industry and 19 non-university groups cooperate on issues like high-throughput next-generation sequencing, implementation of prognostic and diagnostic gene signatures, and development of innovative molecular tools. For these projects, € 12 million are provided by the BMBF.

To pave the way towards further exploitation of resources in the area of medical genome research for the German science community and also for the German industry, the BMBF seeks to support international networking of research activities. Thus, in December 2008 the BMBF and the Agence Nationale de La Recherche (ANR) in France have agreed to implement a joint funding action entitled ‘Genomics and physiopathology of cardiovascular and metabolic diseases’. The aim of the bilateral call is to promote synergy and added value between researchers and industrial companies of both countries and to create a nucleus for potential future multinational collaborations on a European level. By means of interdisciplinary research collaborations, progress in diagnosis and therapy of the most important cardiovascular and metabolic diseases shall be achieved. Especially projects that could otherwise not be realized due to restricted national resources, particularly with regard to patient and control collectives, are encouraged to apply for funding.

Recently, the implementation of next generation sequencing technologies has allowed characterizing the genome of individuals in great detail. The international ‘1000 Genomes Project’ involves sequencing the genomes of more than 1000 people from around the world to develop a detailed map of human genetic variation. The project receives major support from the Wellcome Trust Sanger Institute (UK), the Beijing Genomics Institute (China), and the National Human Genome Research Institute (USA). The German participation was made possible by a BMBF-grant (€ 5 million) to the Max-Planck-Institute for Molecular Genetics in Berlin. Data from the 1000 Genomes Project will be made rapidly available to the worldwide scientific community through freely accessible public databases.