We invite you to the lecture of Joris Deelen on 13 February at 12pm in room P-05-34.

Abstract

Advancing age is the major risk factor for many serious illnesses, including cardiovascular disease and dementia. However, individuals that reach an exceptional old age often seem to escape or delay age-related diseases, and part of this trait seems to be encoded in their genome. We, and others, previously performed several large genome-wide association studies (GWAS) to identify genetic variants involved in longevity and related traits. However, the common variants identified through GWAS only explain a minor fraction of the heritability of longevity. The focus in my group has therefore shifted towards the study of rare genetic variants uniquely identified in exceptionally long-lived individuals or human families exhibiting longevity.

However, given the low frequency of rare variants it is often not possible to determine their causality in humans and functional studies in cellular models and, subsequently, model organisms are indispensable. My group therefore applies CRISPR/Cas9 gene to generate transgenic cell lines and mice that harbour the identified genetic variants, to investigate their effects on general health and lifespan. Our preliminary results show that several of our identified variants in genes involved in insulin/insulin-like growth factor 1 signalling, a conserved lifespan-associated pathway, show effects on both the expression of the proteins harbouring the variants as well as downstream pathway activity in vitro. We are currently exploring the effects of the most promising variants on lifespan, health, and metabolic parameters in mice.

About

Joris Deelen has obtained his PhD in Molecular Epidemiology from Leiden University Medical Center with the thesis “Genetic and biomarker studies of human longevity”. Currently, he is leading a research group on genetics and biomarkers of human aging at the Max Planck Institute for Biology of Ageing in Cologne, Germany.

 

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