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  • Catalan collaboration helps end ‘diagnostic odyssey’ for rare disease patients

    13/05/2022

    A platform developed by the Centre Nacional d'Anàlisi Genòmica (CNAG-CRG) allows doctors and researchers from Catalan hospitals to share data and otherwise scattered expertise and diagnose patients with neurologic rare diseases. During the pilot project, a diagnosis was provided to 67 out of 323 patients (20.7% of cases), just by reanalysing previously available data. The results constitute an important milestone for ending the 'diagnostic odyssey' faced by patients in Catalonia. The collaborative approach also resulted in the identification of six new genes linked to specific diseases, which will make it easier to diagnose certain diseases in the future. The results, published today in The Journal of Molecular Diagnostics, were possible thanks to the Undiagnosed Rare Disease Program of Catalonia (URD-Cat), funded by the Departament de Salut de la Generalitat de Catalunya. The URD-Cat project was coordinated by the Hospital del Mar Medical Research Institute (IMIM-Hospital del Mar) and involved more than 140 professionals from 15 different research centres and hospitals.

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