How many institutions use genomics

Medical genome research

Many diseases are genetic. The identification of causal gene variants was once like looking for the "needle in a haystack". The sequencing of the human genome makes this search much easier and thus brought about a paradigm shift in biomedical research: today, genes are not only easier to find. Once discovered, they can be sorted into the genome map immediately. Often more information is already available about the sequences, for example about the possible function of the gene product.

Genome sequencing also laid the basis for individualized medicine. Researchers often discovered different gene sequences in patients with the same genetic disease. These variations can influence the course of the disease and also the effectiveness of therapeutic approaches. The identification of such gene variants thus promises new starting points for more precise diagnoses and the choice of the best possible therapy, but also for the prevention of diseases. One example of this is cystic fibrosis: the altered gene sequence that causes this lung disease can be diagnosed in newborns. This enables therapy to be started early and increases the chances of the affected children of a longer and healthier life.

Genome research in Germany

Basic biomedical research is an important starting point for innovations in health research. That is why the Federal Ministry of Education and Research (BMBF) has built up an internationally competitive research landscape in Germany over many years. The National Genome Research Network (NGFN) was an important pioneer. Here, researchers from basic life science research work together with research groups from the clinic who work on a disease-related basis.

International cooperation

The German genome research scene is now highly regarded worldwide. She successfully participates in international collaborations - often in a coordinating role. Since it is an important source of inspiration for science and business in Germany, the BMBF promotes its international networking.

International Cancer Genome Consortium

Together with German cancer research, the BMBF supports the involvement of German genome research in the International Cancer Genome Consortium (ICGC). This major biomedical project started in 2008. Renowned institutions from 24 countries with hundreds of scientists from all over the world are participating. Over 70 research groups are each dedicated to a specific type of cancer - valuable resources are bundled and used effectively. The BMBF supports the German ICGC associations with a total of 25 million euros.

The goal: individualized cancer medicine

Many tumors that appear clinically “the same” differ significantly on the genetic level. Therefore, the same drug can effectively fight tumor cells in one case, but prove ineffective in another. The aim is therefore that every cancer therapy in the future should be preceded by an analysis of the tumor genome. The vision: every patient should be able to be treated specifically and thus more effectively according to the DNA profile of the tumor.

Pan-Cancer Analysis of Whole Genomes (PCAWG)

Researchers are comparing the genomes of a total of 2,800 patients with different types of cancer. We are looking for changes in the genetic make-up that occur in many patients. Such mutations could influence the development of cancer and serve as starting points for new diagnostic, therapeutic and preventive measures. Statistical processes “filter” these mutations out of the enormous amounts of sequence data.

Around 1000 scientists from 16 research groups work together on the global PCAWG initiative. It is one of the most extensive bioinformatics projects in the life sciences. German research groups funded by the BMBF have contributed many genome sequences. With the computer capacity of the BioQuant Life Science Center in Heidelberg, they participate in the analysis of the sequences.

the next steps

The sequencing of the human genome has now revealed numerous gene variants that can be associated with important common diseases such as cardiovascular diseases, metabolic diseases such as diabetes and neurodegenerative diseases. Two steps are important in order to be able to use these findings to make therapeutic progress in the future:

  1. strengthen research on further "omics" levels,
  2. promote system-oriented research.

Explore other "omics" levels

One of the key roles in basic biomedical research is played by the "omics" level of epigenomics. The BMBF is funding the German Epigenome Program, DEEP for short, from 2012 to 2017 with around 20 million euros. DEEP makes important contributions to the International Human Epigenome Consortium IHEC.

Using innovative technology, researchers not only analyze all of the genes in a cell. For example, they also record all proteins or metabolites that are in a cell or organ at a specific point in time. In their entirety, these form the genome, proteome or metabolome. The corresponding research disciplines are genomics, proteomics or metabolomics. Since they end in "-omics" in English, the collective term "omics levels" has become established for them.

The epigenome - a "second code"

All cells in the human body have the same genetic information. Nevertheless, they form more than 250 different cell types. The diversity is based on mechanisms that express certain genes in cells and deactivate others. In the process, genes and the proteins that envelop them are chemically modified - the genetic information itself remains untouched. These modifications together form the epigenome. It is a kind of second code that lies above our genetic information, the genome. External influences - nutrition, stress and environmental toxins - shape our epigenetic programming and can contribute to the development of diseases.

Strengthen system-oriented research

The success of “omics” research in the case of important diseases is still very manageable. Looking at individual genes and molecules has not yet enabled a breakthrough in the elucidation of a disease process. Rather, it is necessary to consider many factors at the same time and examine their interaction with the help of computer modeling. Systems medicine, which is still young, is dedicated to this approach.

In order to better understand diseases, diagnose them more precisely and treat them more effectively in the future, systems medicine wants to systematically link the results of "omics" research with clinical data - from laboratory analyzes to imaging. The Federal Ministry of Education and Research is promoting the establishment of systems medicine with the research and funding concept e: Med.

Systems medicine: new opportunities in research, diagnosis, therapy