EURAS partner PMU at the 15th European Epilepsy Congress
Last month, EURAS partners Kirsten Eschermann und Lorenz Kiwull from PMU presented a poster on a “Standard procedure for common data elements in groups of rare diseases” at the 15th European Epilepsy Congress, held in Rome. The method was developed in the EURAS consortium as a cooperation between the University of Málaga, the Otto von Guericke University Magdeburg, SYNGAP Elternhilfe e.V. and the Paracelsus Medical University Salzburg. This standardized approach, using input from all relevant stakeholders (patients, geneticists, neuropediatricians, bioinformaticians), the Delphi method, and bioinformatics analysis, was created to select common data elements for rare disease groups, such as SYNGAP1 and classical RASopathies. This approach resulted in 65 common HPO items that cover various disease domains and can be used for patient cohorting and phenotyping. The protocol will be published to standardize the description of other rare disease groups.
We were honoured that the poster was selected by the ILAE Young Epilepsy Section as one of ten posters for a special poster tour.
The poster is available for download on ResearchGate.