Katherine Schon is doing a PhD in the clinical and genetic aspects of mitochondrial disorders, supervised by Professor Chinnery and Dr Horvath.  Katherine trained in Medicine in Oxford, London and Cambridge and is in her final year of specialist training in Clinical Genetics. She has clinical expertise in the diagnosis of genetic disorders and in genetic counselling.   Katherine previously held an NIHR Academic Clinical Fellowship.  She developed an interest in Neurogenetics, completing short research projects on Ataxia-Telangiectasia (with Dr Anke Hensiek and Prof Marc Tischkowitz) and congenital insensitivity to pain (with Prof Geoff Woods).

Katherine’s main research interest is in using genomics to improve the diagnosis of mitochondrial disorders.  She is working with data from the 100,000 Genomes Project to look at the genetic diagnoses made in patients who have suspected mitochondrial disorders.  Katherine is also doing a collaborative project with the National Institute for Health Protection entitled ‘Co-morbidity and mortality in mitochondrial disease: A registry-based study’ which uses data held by the National Institute for Health Protection to learn more about the natural history of mitochondrial disorders.  Katherine is funded by Addenbrooke’s Charitable Trust (ACT) and the MRC International Centre for Genomic Medicine in Neuromuscular Disorders (ICGNMD).  As the Clinical Fellow for the ICGNMD study in Cambridge, she is responsible for clinical assessments (for this and a number of other local studies) and works collaboratively with our international partners, particularly in Turkey and Zambia.

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