• Health and Nutrition

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

Research unit - ULR 7364

Description

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).

Contacts

  • Jamal Ghoumid
    Director

Informations

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

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

Effectif

Effectif total : 29

Personnel de recherche : 26

Personnel d'appui à la recherche : 1

Expertises

Skills

• 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

National:
Filière AnDDI-Rares

International:
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

APTEEUS

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

Equipments

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

Ecosystem

Affiliated institutions / organisations

CHU de Lille
University of Lille

Groups/Networks/Federations

Achro-Puce
AnDDi-Rares
ERN ITHACA

Doctoral schools

Competitive cluster

Regional strategic areas of activity

  • Health and Nutrition
    • Food ingredients
    • New therapeutic approaches

Request for modification

You enter the « edit request » mode. After sending your modifications, they will first be validated by the Plug in labs Ouest team, before appearing on the platform.

Thematics

Current thematics

  • Health and Nutrition
    • Food ingredients
    • New therapeutic approaches
Title

Current content

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

Current content

Research unit
Description

Current content

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).
Contact informations
Contact

Current content

Contact name Email phone number
GHOUMID Jamal jamal.ghoumid@chru-lille.fr (+33) 3 20 44 49 11
URL

Current content

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

Address

Current content

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

Current content

Genetics, Development, Rare diseases, Genetic regulation, Metabolism, Anomalies, Mutations, Sequencing, Genomics, Proteomics, Phenotype
Our search domains
Skills

Current content

• 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
Workforce

Current content

Nombre de chercheurs : 26
Nombre de doctorants :
Nombre de personnel d'appui à la recherche : 1
Effectif total : 29
Example(s) of projects

Current content

• 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

Current content

• 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

Current content

National: Filière AnDDI-Rares International: 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

Current content

APTEEUS
Services offers
Training offers

Current content

Services offers

Current content

• 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

Current content

Clinical and molecular diagnosis of limb malformations and MED13L syndrome
Equipments
Equipements spécifiques

Current content

  • Imaging system
    Ibright CL100/ Thermo Scientific
  • Western blot protein transfer system
    Iblot/ Thermo Scientific
  • Protein migration system
    Mini Gel Tank/ Thermo Scientific
  • ELECTROPORATOR
    TSS20 OVODYNE/ Abbotsbury
  • Luminescence Plate Reader
    Navigator Microplate Luminometer/ GloMax
Ecosystem
Affiliated institutions / organisations

Current content

  • CHU de Lille
  • University of Lille
Établissement(s) partenaire(s)

Current content

Unit(s) of attachment

Current content

Groups/Networks/Federations

Current content

Achro-Puce AnDDi-Rares ERN ITHACA
Doctoral schools

Current content

Equipex/EquipEx+/ESR

Current content

Competitive cluster

Current content

Regional strategic areas of activity

Current content

  • Health and Nutrition
  • Food ingredients
  • New therapeutic approaches
Personal informations
Back to top