The Solve RD H2020 initiative (“Solve-RD – solving the unsolved rare diseases”), a research project funded by the European Commission for five years (2018-2022) through the Horizon 2020 programme. ITHACA is a key contributing partner to this pan-European research project and the coordinator of ITHACA is an ex officio member of the Solve-RD Steering committee.
Orphanet, an European website that provides an inventory and classification of rare diseases (RDs), with each entry having its own ORPHA code, an encyclopaedia of expert-authored and peer-reviewed review articles, various clinical guidelines, diagnostic criteria, guidance for genetic testing, disability factsheets etc., and a directory of services (clinics, laboratories, research projects, registries, clinical trials, patient organisations).
More infos: https://www.orpha.net
SysNDD is an expert manually curated catalogue of published genes implicated in neurodevelopmental disorders (NDDs) and classified into primary and candidate genes. To allow interoperability and mapping between gene-, phenotype- or disease-oriented databases, SysNDD center their approach around curated gene-inheritance-disease units, so called entities. SysNDD is updated every 3-4 months and can be utilized for a broad spectrum of tasks from both research and diagnostics.
GestaltMatcher database is a collection of curated medical photography of genetic syndromes. It aims to improve the openness and accessibility of scientific findings and to enhance collaboration amongst researchers and clinicians in order to match patients with facial similarity and thus, possibly diagnose patients with an ultra-rare disorder, or delineate a new syndrome in similar patients
The aim of the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity.ERICA will strengthen research and innovation capacity by the integration of ERN research activities, outreach to European research infrastructures to synergistically increase impact and innovation. This will result in efficient access and safe therapies for the benefit of patients suffering from rare diseases and complex conditions.