Joris Deelen

Max Planck Institute for Biology of Ageing

Dr. Joris Deelen CECAD Cologne
Dr. Joris Deelen

Principal Investigator

Research Areas

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3

Genetics and Biomarkers of Human Ageing

Advancing age is the major risk factor for many chronic diseases. Instead of tackling each of these diseases one by one, we should focus on the identification of shared mechanisms that compress multimorbidity and thereby contribute to healthy aging.

Research Focus

Why do some people age more healthily than others? This is the main question we try to address in our research group. To this end, we use two different approaches. The first approach is the identification and characterization of genetic mechanisms underlying healthy aging and extended lifespan in humans. The second approach is the identification of biomarkers of healthy aging, using data from large-scale international collaborations of human studies, that can subsequently be used as surrogate endpoints in clinical trials or intervention studies that are aimed at improving general health.

The overarching aim of our research is to identify biomarkers that provide information about the molecular mechanisms underlying aging and can be introduced in the clinic to identify vulnerable people in the population that are at high risk for developing multimorbidity.

Our Goals

  • The primary aim of our research group is to study the effect of common genetic variants (identified using large-scale genetic association studies of healthy aging) and rare protein-altering genetic variants (identified using sequencing data of long-lived individuals). The common genetic variants we are focusing on are the ones identified in our most recent genome-wide association study (GWAS) in which we combined different age-related phenotypes, i.e. healthspan, parental lifespan, and longevity1. However, our main focus is on rare genetic variants that we identified in long-lived individuals from the Leiden Longevity Study (led by Eline Slagboom) and German Longevity Study (led by Almut Nebel). As a first step, we create transgenic cell lines and mice harboring our variants of interest using CRISPR/Cas9 gene editing. We subsequently measure the in vitro (mouse embryonic stem cells (mESCs) and human cell lines) and in vivo (mice) effects of the genetic variants on the functioning of the genes in which they reside as well as downstream pathways.
     
  • The second aim of our research group is to establish novel, and collaborate with already existing, human studies in Cologne to determine the efficacy of previously identified biomarkers of healthy aging, including the ones originating from studies in model organisms, in clinical studies. The main focus is on biomarkers that have been identified in large-scale international collaborations of human studies using omics-based approaches, such as metabolomics. We recently identified a set of 14 metabolic biomarkers that are predictive of future mortality2 and are currently determining if these markers, when combined into a score (MetaboHealth), can also be used to estimate general health in more clinical settings.

Key Publications


  1. Timmers PRHJ, Wilson JF, Joshi PK, Deelen J. (2020) Multivariate genomic scan implicates novel loci and haem metabolism in human ageing. Nat Commun 11, 1, 3570.
  2. Deelen J, [...], Slagboom PE. (2019) A metabolic profile of all-cause mortality risk identified in an observational study of 44,168 individuals. Nat Commun 10, 1, 3346.
  3. Deelen J, Evans DS, [...], Slagboom PE, Murabito JM. (2019) A meta-analysis of genome-wide association studies identifies multiple longevity genes. Nat Commun 10, 1, 3669.
  4. Baghdadi M, Hinterding H [...], Deelen J. (2022) From mutation to mechanism: deciphering the molecular function of genetic variants linked to human ageing. Brief Funct Genomics 1, 25, 13-23.
  5. Partridge L, Deelen J, Slagboom PE. (2018) Facing up to the global challenges of ageing. Nature 561, 7721, 45-56.
Dr. Joris Deelen CECAD Cologne
Dr. Joris Deelen

Principal Investigator

Research Areas

1
3