Matthew Adams

Matt is a PhD student in the University of Exeter Rare Disease Research Group funded by an NIHR Exeter Biomedical Research Centre studentship. His work focuses on combining clinical investigations with next-generation sequencing technologies to elucidate the phenotypic spectrum and genetic causes of rare monogenic developmental disorders in underrepresented populations, with the overarching aim to translate that knowledge into improved diagnostic testing and clinical management in these communities. This includes the application of tailored functional studies alongside other ‘omic’ technologies to identify novel disease-gene associations and uncover the molecular basis of these conditions, as well as enhancing understanding of previously described disorders.