H2020-Societal challenge 1: health, demographic change and wellbeing 2017 (4)

SC1-PM-03-2017: Diagnostic characterisation of rare diseases

The aim of this research should be to apply genomics and/or other -omics and/or other high-throughput approaches for the molecular characterisation of rare diseases in view of developing molecular diagnoses for a large number of undiagnosed rare diseases. Undiagnosed rare diseases may range from a group of unnamed disorders with common characteristics to a phenotypically well described disease or group of diseases with an unknown molecular basis. Genetic variability due to geographical distribution and/or different ethnicity should be taken into account as well as genotype-phenotype correlation whenever applicable.