Event Detail (Archived)

Rare Germline and Somatic Variants Effect and Epigenic Impact on Diabetes

  • This event already took place in October 2025
  • 301 WRB

Event Details

Type
Other Seminars
Speaker(s)
11:00 a.m.: Amélie Bonnefond, Ph.D., director of research, University of Lille, France, Link Between Somatic Variants and Type 2 Diabetes
11:30 a.m.: Philippe Froguel, M.D., Ph.D., head of genomics of common disease, Imperial College London, Epigenomics of Age and Diabetes
Speaker bio(s)

Amélie Bonnefond graduated with a PhD from University of Lille in 2010. Her scientific career has been focused on the dissection of the genetic etiologies of type 2 diabetes and obesity in order to elucidate their pathophysiology towards a better stratification of the patients and a putative identification of new drug targets. She is Director of Research (DR1; Inserm). She is also the current scientific director of the LIGAN platform dedicated to the use of next-generation sequencing in precision medicine. She has published >150 peer-reviewed scientific papers. Notably she has recently been the senior/corresponding author of the following three articles (PMID: 36822744 in Lancet Diabetes & Endocrinology (2023); PMID: 37709961 in Nature Metabolism (2023); PMID: 33026327 in Nature Medicine (2019)). She was laureate of the 2012 Rising Star award from European Association for the Study of Diabetes (EASD), the 2018 Auguste Loubatières award from the French-speaking Association for Diabetes (SFD), the 2021 Minkowski award from EASD, and two European Research Council Grants (Starting and Consolidator).

Philippe Froguel, MD, PhD, works at Lille University hospital as Prof of Endocrinology and at Imperial College London as Prof and chair of Genomic Medicine. In Lille, he is director of the Inserm/CNRS/Pasteur/Lille University research group "Functional(epi)genomics and mechanisms of type 2 diabetes and related disorders”, Director of the laboratory of excellence European Genomic Institute for Diabetes research (EGID) and of the French National Center for Precision Medicine in diabetes PreciDIAB. PF's scientific career is focused on the genetics of diabetes and obesity and its impact for personalized metabolic medicine. PF has identified in 1992 the first diabetes gene (glucokinase), in 1998 the most prevalent cause of monogenic obesity (MC4R), and the first recessive mutation causing obesity in the leptin receptor gene. He discovered in 2006 the role of the sulfonylurea receptor gene ABCC8 in monogenic diabetes and in 2010-2011 the first evidence that Copy Number Variation causes extreme obesity or leanness depending of the quantity of DNA. He discovered in 2007 the first gene for common obesity (FTO) and has published in 2007 the first Genome Wide Association Study (GWAS) in T2D. Later, he found first gene frequent variants controlling glycemia (in GCPC2) and discovered the role of the melatonin pathway (through frequent and rare variants in MTNR1B) in T2D risk. Recently, he showed that >5% of patients with apparent common T2D carry pathogenic mutations in actionable genes opening a path to precision medicine. PF objective is the identification of diabetic patients that should benefit from customized treatments controlling diabetes and also preventing complications that also have a genetic basis. To progress toward this direction PF have created the unique in France LIGAN Genomic Center specialized in integrated multiomics.

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