Dr. Joris Deelen

Research Group Leader – MPI for Biology of Ageing


Dr. Joris Deelen
Principal Investigator, Research Group Leader - MPI for Biology of Ageing

MPI for Biology of Ageing
Joseph-Stelzmann-Str. 9b
50931 Köln

Genetics and Biomarkers of Human Aging

Advancing age is a major risk factor for chronic diseases such as cancer, cardiovascular disease, and neurodegeneration and, since the mean life expectancy is still increasing, we face massive challenges from the social and economic costs of diseases associated with ageing. Therefore, we should focus on approaches aimed at identification of mechanisms that compress morbidity and thereby contribute to healthy ageing.

Our research: In our group, we use two different approaches to find out why some people age more healthily than others. The first approach is identification of the genetic mechanisms underlying healthy ageing and extended lifespan in humans. We are therefore investigating the effect of common genetic variants identified using large-scale genetic association studies (GWAS) of healthy ageing and of rare genetic variants that are unique to long-lived families on the functioning of pathways implicated in ageing and/or age-related diseases. The second approach is identification of biomarkers of healthy ageing. To this end, we use data from large-scale international collaborations of human studies. Moreover, we are testing the utility of these biomarkers in clinical settings using the cohorts available within Cologne.

Our goals: Our research is focused on three main aims:

  • Functional characterization of genetic variants involved in healthy ageing.
  • Establish human ageing studies in Cologne to determine the efficacy of previously identified biomarkers of healthy ageing in clinical studies.
  • Increase the connectivity between ageing research in model organisms and human cohorts.

Our successes: In our most recent effort to identify novel genetic variants influencing healthy ageing, we combined large GWAS using different age-related phenotypes (i.e. healthspan, parental lifespan, and extended lifespan). We identified several genetic variants, influencing many different genes and pathways, associated with healthy ageing. These variants will now be taken forward to functional studies. Moreover, we recently identified a set of 14 metabolic biomarkers that are predictive of future mortality and will now test the clinical utility of these biomarkers.

Our methods/techniques: We use different model organisms (i.e. fruit flies and mice) and cellular models to study the functional effect of genetic variants associated with healthy ageing. To introduce the variants into the cell lines and animals we make use of the CRISPR/Cas9 system. Moreover, we use blood samples from elderly individuals (≥65 years of age) to identify and validate biomarkers of healthy ageing.


Figure 1: Manhattan plot showing the association of genetic variants with the healthy ageing phenotype based on healthspan, parental lifespan, and extended lifespan (adapted from Timmers et al. 2020).

EXTERNAL Cooperations
  • Dr. Peter Joshi, University of Edinburgh, UK