Improving our understanding and the genetic diagnosis of inherited peripheral neuropathies

Inherited peripheral neuropathies (IPNs) are diseases that result in primary length-dependent degeneration of the peripheral nerves. Despite increased understanding of the genetic aetiology of IPNs, approximately 30-50% of patients remain genetically unsolved, left in diagnostic limbo. This PhD aimed to improve the understanding and diagnostic yield of IPNs. An IPN patient cohort was accumulated through patient referral nationally and internationally. This thesis combines genomic technologies, in silico analysis, and functional genomics to examine novel causes of IPN. Findings have informed molecular diagnoses for 22% of patients, including two novel disease gene discoveries. The findings have pertinent diagnostic implications for patients.