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
