• Health and Nutrition

Rare Diseases of Embryonic Development and Metabolism: From Phenotype to Genotype and Function (RADEME)

Research unit - ULR 7364


Our laboratory focuses on the genetics and pathophysiology of rare developmental and metabolic disorders, using a translational and multidisciplinary approach based on clinical, genetic, metabolic and molecular biological expertise. Our goals are to help elucidate the genetic cause of these disorders and to improve patient treatment. Among developmental abnormalities, RADEME is particularly interested in limb defects, malformative syndromes and intellectual disability. We have access to clinical, biological and imaging resources, and in particular to 5 rare disease reference centers (CRMR).


  • Jamal Ghoumid


1 place de Verdun
Faculté de Médecine, Campus Santé, Université de Lille
59045 LILLE



Effectif total : 29

Personnel de recherche : 26

Personnel d'appui à la recherche : 1



• Genomic regulation of gene expression
• Pathologies of limb development
• MED13L syndrome
• Hereditary metabolic diseases
• Abnormalities of genital development
• Genetic deafness
• Developmental abnormalities
• Molecular biology techniques
• Malformative syndromes
• Chromatin structure
• Protein structure and proteomics

Example(s) of projects

• Identification by exome analysis of the cause of Blepharo-cheilodontic syndrome 🡭
• Deregulation of SHH and limb deformities 🡭
• Solving the diagnostic impasse in limb deformities 🡭
• Intellectual disability and gene regulation 🡭

Example(s) of publications

• Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia, Nat Comm
• TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A, Hum Mut
• Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants, EJHG
• MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype, Neurogenetics
• Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1, Gen Med
• Limb development: a paradigm of gene regulation, Nat Rev Genet

Discover the full list of publications here

Collaborations/Partners/Scientific clients

Filière AnDDI-Rares

University of California San Francisco (USA), Kings College (UK), Loma Linda University (USA), Massachusetts General Hospital (USA), Free University of Brussels (Belgium), Institute for Research and Innovation in Health (Portugal), University of Cologne (Germany)

Collaborations/Partners/Private Clients


Services offers

Applications sectors

  • Health / wellness
  • Science / Research

Services provided

• Establishment of phenotyped cohorts of patients
• Identification of patients with pathologies
• Classification of phenotype and genotype
• MED13L functional tests and epigenetic abnormalities
• WES / WGS sequencing

Consulting services

Clinical and molecular diagnosis of limb malformations and MED13L syndrome


We possess a wide range of equipment:
• Cell culture room
• System for the realization of enhancers assays in the chicken embryo
• System for performing luciferase assay
• Systems for DNA amplification and analysis
• Protein analysis system

Biological materials

• Cell lines: IPSc (WTC-11), Human fibroblasts, 3T3, HeLa, HEK293T
• Brain organoids
• Chicken embryo model
• Biological collection: DNA library


Affiliated institutions / organisations


Doctoral schools

Competitive cluster

Regional strategic areas of activity

  • Health and Nutrition
    • Food ingredients
    • New therapeutic approaches