Biomarkers, biobanking and epigenetics

In November, the Blood Donor Biobank participated in the Munich Biomarker Conference 2011, where the Biobank was selected for a poster presentation. The theme of the first Munich Biomarker Conference was "Local heroes and global challenges" and was devoted to the core theme of the medicine of the future: from identification through the development and validation to establishment of a companion diagnostic in biomarker research. The biomarkers conference provided an excellent basis to discuss new opportunities for cooperation and synergies. It showed that the presence of numerous pharmaceutical and academic groups in the Munich area, all working on biomarkers, is an ideal foundation for further innovative projects and to promote personalized medicine in the Munich cluster. The presentation of the Blood Donor Biobank exemplified how epigenetic biomarkers can play a central role in the diagnosis, therapy and prevention of complex diseases. The poster, titled "Epigenetic Biomarkers & Biobanking" can be downloaded here here.

What is Epigenetics? In contrast to genetics, which deals with the genetic material DNA itself, epigenetics is all about the additional information encoded in the cell, which determine the activity state of the genes. Epigenetic marks are chemical changes that occur at the DNA itself or on specific proteins. Those modifications, such as DNA methylation, cause a change in higher order structure of the genome, which in turn switches certain regions of the DNA on or off. Epigenetic marks constitute the previously missing link between genetics, disease and the environment that is widely thought to play a decisive role in the development of most human diseases. Not surprisingly, epigenetics is one of the most exciting research fields. The theory of age-dependent epigenetic drift suggests that, among other causes, aging results from progressive accumulation of epigenetic damage as a direct consequence of evolved limitations in the genetic and epigenetic settings of maintenance and repair functions. Mammalian aging is a complex individual phenotype arising from a variety of risk factors, such as environmental effects, nutrition or stochastic fluctuations, among others, which directly act on the epigenomic machinery and increase epigenetic variability with age. Despite all those changes, only some predisposed individuals will reach the “threshold” of epigenetic deregulation that causes the changes that meet the diagnostic criteria for a clinical disorder, such as Diabetes or Alzheimer. Just as the genome is passed along from parents to their offspring, those epigenetic modifications can also be inherited.

During the meeting, the Blood Donor Biobank demonstrated new strategies for personalized medicine (or “personalized prevention”) that can be utilized to better understand the origin of such “epigenetic” diseases, which in turn may lead to innovate intervention schemes to prevent the most common human diseases. One approach for disease prevention would be the adjustment of an individual’s epigenome before the critical threshold of epigenetic deregulation is reached. Reversal of complex epigenetic patterns is a challenging task, however, there are many lines of evidence that lifestyle and drugs may inhibit or at least postpone the onset of age-related disorders. Such approaches underscore the need for early diagnostic markers in age-dependent disorders, which also requires intelligent biobanking strategies. There was a great interest in the topic presented by the Biobank which gave rise to a lively exchange among the meeting participants. Overall, this meeting was a great success and we are looking forward to be there again next year.

In December, the 2^nd World Epigenetics Summit took place in Munich. Bringing together the world’s largest drug developers and most prominent academics, the meeting fuelled an intense discussion on how to capitalize on the potential treatments that are possible by targeting epigenetic mechanisms. The Biobank was invited to present one of the keynotes of the event, exploring how epigenetic research can be translated across disease areas. This opportunity was used to introduce the Blood Donor Biobank to an international audience, particularly key decision makers in the pharmaceutical industry. The half-hour lecture summarized recent developments in epigenetic theory, epigenetic drift, biomarker discovery and biobanking strategies, and achieved extraordinarily active and positive responses from the meeting participants. The lively discussions resulted in numerous contacts, particularly with potential partners in the industry. The feedback confirmed the increased interest in biobanking and resources for the identification of early diagnostic markers by the pharmaceutical industry. Especially the innovative approach of the Blood Donor Biobank, with its unique resource of previously stored prediagnostic plasma samples, was positively noticed. Although the study of epigenetic mechanisms in the development of common diseases is just at the beginning, we hope that with the unique resource of our Biobank, we can make an important contribution for a better understanding of the most common human diseases. For the Biobank, the main importance of this research area is in the long-term health of the population, because both, positive and negative environmental influences on health, can also have a long lasting effect on future generations.