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, Led by Professors Andrew Crosby and Emma Baple, since 2018. During this time, he has worked to aid scientific 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 a broader community genetics program based among underrepresented populations globally, including Egypt, Oman, Pakistan, the Palestinian population of the West Bank, and Amish populations in the USA, with the aim to characterise the genetic causes of rare disease in these communities, and translate that knowledge into improved diagnostic testing and clinical management.
Research projects that Joseph has been involved in
Genetics and Genomics
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