Katherine Schon is an Assistant Professor in the Department of Medical Genetics and an Honorary Consultant in Clinical Genetics and Genomic Medicine.
She completed her PhD on mitochondrial disease in 2023. Her PhD was supervised by Professor Chinnery and Professor Horvath and funded by the Addenbrooke’s Charitable Trust and the MRC International Centre for Genomic Medicine in Neuromuscular Disorders (ICGNMD).
Katherine’s research on the molecular diagnosis of mitochondrial disorders has focused on the 100,000 genomes project dataset. We found significant clinical overlap between mitochondrial disorders and other genetic disorders, which helps guide our testing strategy. Katherine is working with the National Disease Registration Service to use routinely collected healthcare data to learn more about the natural history of mitochondrial disorders. She is also interested in other neurogenetic disorders. Katherine is the clinical geneticist for a joint clinic with paediatric neurology for children with Congenital Insensitivity to Pain from around the UK.