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
