Researchers in our Section aim to understand the workings of the genome to better personalise disease treatment in children. To do this, we combine the computational and experimental analysis of the rare genetic variation underlying rare disease, with the more common variation in each child’s genetic background.
We use cellular, animal and population models to probe the health consequences of this variation, as well as the influence that rare and common variants have on each other’s biological effects. We believe this approach to better consider ethnic and interindividual differences in rare disease, particularly for diseases where the same rare mutation leads to diverse disease phenotypes. This will be key to understand the phenotypic variation of rare disease across the 100K and other similar projects.
We aim to use these approaches to establish ethnically diverse genotype-phenotype databases for rare children’s’ diseases. Towards this end, we apply a number of genomic technologies, some provided by UCL Genomics, and aim to integrate them with other omics approaches (e.g. epigenomics, proteomics and metabolomics) to better characterise disease phenotypes. In this regard, the GOSgene team is a key research effort to advance the use of precision medicine in child health, and we work with the other Sections and Programmes to translate findings into clinical practice.