Case study 1: Data sharing helps to identify new genes associated with rare diseases.

Two patients suffering from proximal muscle weakness mainly in the lower limbs were analysed by two NeurOmics research teams in Newcastle and London. The first case, based in Newcastle, UK, was a man in his fifties, whose symptoms had been slowly progressing since childhood. The London case was a 4-year-old boy also presenting with weakness of the neck and spine. In both cases, muscle biopsy indicated congenital myopathy. Exome analysis revealed that both patients carried disease-causing variants in the gene SRPK3. Using a genome-phenome analysis platform for data sharing, the research teams discovered that they had patients with variants in the same gene and exchanged information. This strongly supported SRPK3 as a disease-causing gene in these patients and will now allow personalized genetic counseling. Thanks to data sharing, researchers identified SRPK3 as a congenital myopathy gene, which will help other researchers worldwide to diagnose similar patients in the future. [Töpf A et al. in preparation]