Dr Katherine Schon BM BCh MRCP University positionClinical Research Associate DepartmentsDepartment of Clinical Neurosciences InstitutesMitochondrial Biology Unit, MRC Research ThemeInterestsI am doing clinical and genomic research supervised by Prof Patrick Chinnery and Prof Rita Horvath. I am interested in the use of whole genome sequencing to diagnose mitochondrial disorders. I am working with the 100 000 genomes dataset and with the International Centre for Genomic Medicine in Neuromuscular Diseases. I am funded by the Addenbrookes Charitable Trust and MRC ICGNMD. I am also interested in other neurogenic disorders including ataxia-telangiectasia. Research Focus
EquipmentCross-sectional and cohort studies CollaboratorsNo collaborators listed Associated News ItemsKey publicationsSchon, K, van Os NJH, Nicholas Oscroft, N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR , Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE (2019), “Genotype, Extrapyramidal Features, and Severity of Variant Ataxia-Telangiectasia” Ann Neurol 85(2):170-180 Publications2019French CE,Delon I , Dolling H , Sanchis-Juan A, Shamardina O , Mégy K, Abbs S, Austin T, Bowdin S, Ricardo G Branco RG, Firth H, NIHR BioResource—Rare Disease; Next Generation Children Project; Rowitch DH, Raymond FL (2019), “Whole Genome Sequencing Reveals That Genetic Conditions Are Frequent in Intensively Ill Children” Intensive Care Med 45(5):627-636 2018Schon K, Parker A, Woods CG (2018), “Congenital Insensitivity to Pain Overview” GeneReviews Schon K, Rytina E, Drummond J, Simmonds J, Abbs S, Sandford R, Tischkowitz M. (2018), “Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.” Clin Exp Dermatol 43(4):410-415 Schon K, Tischkowitz M (2018), “Clinical Implications of Germline Mutations in Breast Cancer: TP53” Breast Cancer Res Treat 167(2):417-423 2017Schon K, Spasic-Boskovic O, Brugger K, Graves TD, Abbs S, Park SM, Ambegaonkar G, Armstrong R. (2017), “Mosaicism for a Pathogenic MFN2 Mutation Causes Minimal Clinical Features of CMT2A in the Parent of a Severely Affected Child” Neurogenetics 18(1):49-55 2015Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW (2015), “Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency Due to Novel RARS2 Mutations” Neuropathol Exp Neurol . 74(7):688-703 |