• Health and Nutrition

Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases (EGENODIA)

Research unit - UMR 1283/8199


The goal of our unit is to identify new genes involved in diabetes and obesity, and to better diagnose the forms of diabetes and obesity of genetic origin, thus allowing personalized medicine according to the genetic subtype. Our work also aims to better stratify the genetic and environmental risk factors, as well as the primary genetic causes, of metabolic diseases at different ages of life. We are developing translational concepts to allow individualized therapies for obese and diabetic patients. Different "multiomics" approaches are carried out using our unique genomics platform LIGAN-PM (high throughput DNA and RNA sequencing, genotyping and transcriptomic analysis using DNA chips, digital molecular counting via NanoString technology).


  • Philippe Froguel
  • Gilles Pulvermuller


1, place de Verdun
Faculté de Médecine - Pôle Recherche, Université de Lille
59045 LILLE



Effectif total : 82

Personnel de recherche : 28

Personnel d'appui à la recherche : 40



• Genetics of metabolic diseases
• Prediction, prevention and therapy of diabetes and obesity
• Personalized therapy for metabolic diseases
• Genetics and epigenetics of diabetes and obesity
• Molecular bases and modeling of diabetes and obesity
• Preparation and management of BioBanque
• High throughput sequencing (NGS) + analyzes (bioinformatics & biostatistics)

Example(s) of projects

• ERC Reg-Seq: Functional genomics of non-coding mutations in regulatory regions of four metabolic tissues, and their involvement into type 2 diabetes through large-scale sequencing
• PreciDiab National Center for Precision Diabetic Medicine

Example(s) of publications

• Vaxilaire M et al. Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries, Diabetes Res Clin Pract. 2021 Jan;171:108553. 🡭
• Bonnefond A and Froguel P., Clustering for a better prediction of type 2 diabetes mellitus, Nat Rev Endocrinol. 2021 Feb 1. 🡭
• Bonnefond A et al. Pathogenic Variants in Actionable MODY Genes are Associated With Type 2 Diabetes, Nat Metab. 2020 Oct;2(10):1126-1134. 🡭
• Baron M et al. Loss-of-Function Mutations in MRAP2 are Pathogenic in Hyperphagic Obesity with Hyperglycemia and Hypertension, Nat Med. 2019 Nov;25(11):1733-1738. 🡭
• Khamis A et al. Histone Deacetylase 9 Promoter Hypomethylation Associated with Adipocyte Dysfunction is a Statin-Related Metabolic Effect. Clin Epigenetics 2020 May 14;12(1):68. 🡭

See the full list of publications here.

Collaborations/Partners/Scientific clients

PARCC (Université de Paris), Université de Nice, ...

Imperial College London (UK), University of Jena (Germany), Lund University (Sweden), University of Oxford (UK), Harvard University (USA), Leiden University (Netherlands), Helmholtz Association (Germany), Wellcome Centre for Human Genetics (UK), Shriners Hospitals for Children (USA), ...

Collaborations/Partners/Private Clients

Numerous collaborations with the pharmaceutical industry and biotechnology companies: Sanofi, Servier, Eli Lilly, Enterome, etc.
2 RHU in progress: iMAP with private partners ILTOO Pharma and IMMUNOTECH BECKMAN COULTER and PreciNASH with SANOFI

Services offers

Applications sectors

  • Science / Research

Services provided

• Preparation and extraction of DNA, RNA from blood or tissue, saliva and cell pellet
• Genotyping
• Expression analysis
• NGS sequencing
• Bioinformatics and statistical analysis

Consulting services

We provide consulting services related to all our areas of expertise.


Biological materials

• Cell lines: murine and human beta cell models
• Murine models: Knock-out tissue specific, overexpression, physiological model for metabolic perturbations analysis ...
• Biological collections: DNA from different patient cohorts


Affiliated institutions / organisations

Partner institution(s)



Doctoral schools

Competitive cluster

Regional strategic areas of activity

  • Health and Nutrition
    • Food ingredients
    • New therapeutic approaches