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

RADEME | ULR 7364
Biology and health Research unit Precision health

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).

Informations

Director: Jamal Ghoumid

http://recherche.univ-lille2.fr/fr/la-recherche/annuequipes/sciencesviesante/ea/ea-7364.html?tx_daimitabs_pi1%5Bpid%5D=1247

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

Mots-clés

Genetics, Development, Rare diseases, Genetic regulation, Metabolism, Anomalies, Mutations, Sequencing, Genomics, Proteomics, Phenotype

Localisation

  • 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

Examples of projects:

  • 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

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

Private
APTEEUS

Academic
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)

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