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The UCD Academic Centre on Rare Diseases (ACoRD) was awarded formal centre status in June 2013. The focus of the centre is to investigate rare genetic diseases, particularly those affecting the Irish population and the Irish Traveller population.
The Centre’s aims are focused on the study of rare genetic diseases, with a view to the identification of the mutation(s) causing the disease. Once a causal mutation(s) is established, the objective is to develop diagnostic tests for translation back into a clinical setting. Once a gene is implicated, our PIs work to further investigate the gene function and biological pathways involved in the condition. The ultimate aim is to investigate those conditions / genes which might be amenable to drug targeting or gene therapy.