Post-GWAS functional analyses of variants (and proxy genes) associated with type 2 diabetes

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Talk by Amélie Bonnefond, PhD, University of Lille

  • Date: May 29, 2017
  • Time: 14:00 - 15:00
  • Location: MPI for Metabolism Research, Gleueler Strasse 50, 50931 Köln
  • Room: Seminar room 1
  • Host: Dr. Jan-Wilhelm Kornfeld
  • Contact: jan-wilhelm.kornfeld@sf.mpg.de
Type 2 diabetes (T2D) is a complex genetic metabolic disorder which has developed into major health problem responsible for early morbidities (e.g. severe vascular complications and cancers) and mortality, with a burden increasing globally. T2D results from the progressive alteration of insulin secretion from pancreatic beta cells on a background of impaired insulin action in sensitive organs and tissues. Whilst the environment is the key risk factor for T2D at the population level, one remarkable feature is the persistence of considerable individual disease risk amongst people sharing same environment. Estimates of T2D heritability range from 40 to 70%. Genome-wide association studies (GWAS) have identified >100 loci independently contributing to T2D risk. Despite this dramatic success, there has been a considerable gap between the knowledge of the genetic contribution of these loci and the understanding of how these loci physiologically impact the disease: indeed, association does not mean causality. Therefore, translational implications for precision medicine and for the development of novel treatments have been disappointing, due to the poor knowledge of how these loci impact T2D pathophysiology. During my talk, I will present several post-GWAS functional studies which enabled the identification of causal genes and pathways involved in T2D pathophysiology.

Amélie Bonnefond (PhD) is currently a senior research scientist in the lab headed by Philippe Froguel in Lille (France). The (short) scientific career of Amélie Bonnefond has been focused so far on the dissection of the genetic etiologies of type 2 diabetes (T2D) and obesity, through integrative studies combining large-scale or focused human genetic studies and functional investigations (cell/animal models), towards a better stratification of patients, and subsequent precision medicine.

To date, she has published more than 90 Pubmed indexed papers (including articles published in Nature, Nature Genetics, Cell Metabolism and JCI). Her current H-index is 32.

In 2012, she received the Rising Star award from the European Association for the Study of Diabetes (EASD). Recently, she has been recipient of the Starting Grant Award from the European Research Council (ERC).

 
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