Joe is an NIHR Exeter BRC Translational Research Fellow with research expertise involving utilising next generation sequencing technologies alongside functional investigations and other ‘omic’ technologies to uncover the aetiology of rare genetic conditions. Joe has worked as part of the Rare Disease Research group at the University of Exeter since 2018. During this time, he has worked to aid scientific and clinical understanding of the molecular basis of disorders relating to the disruption of ciliary function, which cause situs abnormalities and/or primary ciliary dyskinesia (PCD). These studies stem from broader population translational medical genomic research programmes based among underrepresented groups globally, including Egypt, Oman, Pakistan, Palestine and Amish populations in the USA, with the aim to characterise the clinical and genetic causes of rare diseases in these communities, and translate that knowledge into improved diagnostic testing and clinical management.