NSEuroNet – a progress report about the European database
Martin Zenker, Hélène Cavé, Reza Ahmadian, Ype Elgersma, Patrick Raynal, Marco Tartaglia Institute of Human Genetics, University Hospital Magdeburg, Germany
The European network on Noonan syndrome and related disorders (NSEuroNet) is a EU-funded collaborative project that started its activities in 2010. The project is coordinated by Marco Tartaglia and aims at improving the knowledge about RASopathies at the levels of basic research as well as of practical clinical care. We provide a progress report on the RASopathy mutation and phenotype database that is a core part of the NSEuroNet project. This registry is aimed at providing locus-specific mutation databases for the RASopathy genes in combination with standardized phenotype data including long-term follow-up. The ultimate goals are to clarify genotype-phenotype correlations, to detect rare manifestations (e.g. cancer) and possible associated risk genotypes, to improve counseling and individual clinical care, and to develop a platform from which clinical trials could be carried out. Compliance and interactivity with other mutation database projects (Human Variome Project, LOVD, MutaBASE) is sought. The current status of the NSEuroNet activities will be described and put up for discussion.