Genetic and epigenetic investigations of childhood cancer and overgrowth syndromes

The study of childhood cancer and associated syndromes, such as those that result in global or regional overgrowth, has resulted in important insights into basic biological processes and substantial clinical benefits. Professor Rahman’s research has already identified common and rare genetic and epigenetic susceptibility factors for these conditions. However, these only account for a minority of children. Professor Rahman will extend her research to employ genome-wide exomic, genomic and methylation analyses to discover new predisposition factors, together with targeted replication to define prevalence, penetrance, the spectrum of pathogenic mutations and genotype-phenotype associations. The data generated will be integrated to help define the clinically relevant information required for clinical translation of new genes/epigenetic defects, and to produce diagnostic, management and testing protocols for use in clinical practice.