Here you find documents such as policies, presentations, posters and flyers produced by Solve-RD.
Solve-RD WP3 aims at changing patient lives via the establishment of a "Treatabolome" database flagging treatable genes and variants which will contribute to the translation of genomics data into the clinical setting.
The Solve-RD Publication Policy provides detailed information about authors' responsibilities with regard to publication of shared data and data resulting from the Solve-RD project. It also explains how to acknowledge Solve-RD funding, use of the RD-Connect Genome-Phenome Analysis Platform and ERN involvement.
Solve-RD aims to find a diagnosis for rare disease patients who did not get a molecular diagnosis so far. We will compare the potential of different -omics technologies regarding their contribution to solve the pathogenicity in different patient cohorts, reaching from neurodevelopmental to late onset diseases including diagnostic specialties like cancer. The clinical expertise of numerous European Reference Networks (ERNs) is integrated by clinically well selected patient cohorts. This FACT SHEET gives an overview of the four Solve-RD cohorts of rare disease patients which have been defined.