ESDN Components

ESDN – Diagnostics provides molecular diagnosis for more than 28 skeletal dysplasias through an integrated network approach whose aims are to provide:

  • Robust European referral pathways and efficient routing of samples to appropriate centres
  • Efficient dissemination of results and clinically relevant information
  • Effective quality assessment systems
  • Diagnostic service 'best practice' guidelines

ESDN – Research will use an integrated approach for identifying the molecular genetic basis and cell- matrix pathology of skeletal dysplasias. This will be achieved through 6 complimentary programmes:

  • Identifying novel genes involved in human skeletal dysplasias by EST screening
  • Identification and characterisation of susceptibility and modifier genes
  • Genetic linkage studies and positional candidate cloning
  • Investigation of candidate genes
  • Analysis of protein function and dysfunction through structural & functional studies
  • A proteomics approach for candidate gene identification and investigating the molecular cell pathology of skeletal dysplasias