More about the Network
International collaboration is essential in order to undertake high-quality research into the aetiology of these conditions. First, since they are rare it is necessary to increase the population base over which these conditions are identified. Second, it is essential that the clinical characteristics recorded on all these cases is standardised and of sufficient detail to understand how normal function is disrupted. This will require the use of model systems (Drosophila, zebrafish, chick, mouse) in some cases Agreement will be sought on a standard clinical data set which is to be collected. Once this is agreed upon this can be disseminated widely in Europe among ophthalmologists (both individual departments and professional associations) who are likely to identify such cases. Third, the intensive and complex nature of the genetic investigations required dictate that a network of laboratories expert in the investigation of specific candidate genes be created. Full evaluation of a candidate gene requires development of the full length DNA sequence of the candidate gene, definition of the genomic organisation including the number of exons and the intron-exon boundary sequences, investigation of the time scale and pattern of tissue specific expression and the chromosomal localisation and identification of molecular interaction between different gene family members. The complementary expertise of the proposed groups will ensure this.
The proposed network will seek to seek to establish the collaborative structures required and will provide an opportunity for scientists to meet to explore the possibility of preparing research funding applications for submission to the EU or other European funding bodies.
In addition to these aims, the proposed network will result in exchange of knowledge and experiences between European research teams involved in disparate areas of research genetics / developmental biology and environmental epidemiology which rarely interact. We believe that bringing these groups together in a common network is likely to increase appreciation of the need for future collaborative work and may lead to new joint insights into the research issues which are being tackled.
Finally, we suggest that this collaborative European network which will jointly establish a common shared clinical resource (which is well characterised using a common phenotypic classification system) among a network of collaborating laboratories may be a model which could be usefully applied to the investigation of the roles of candidate genes in other developmental eye defects and, more broadly, in other areas of human disease. We would hope that if we are successful in implementing the above model that we would be in a position to disseminate results and experiences so that this approach could be applied in other research areas in which the role of candidate genes in complex diseases is being investigated.
Activities
First Coordination Committee meeting on 24-25 May 2002 in Strasbourg
First Workshop on 17-18 March 2003 in Sorrento (Italy)
Second Worshop on 29-30 March 2004 in Sorrento (Italy)
