Katherine Fawcett


Department of Health Sciences
University of Leicester
Centre for Medicine
University Road
Leicester LE1 7RH

Tel: 00 44 116 252 3214

Email: kaf19@leicester.ac.uk


My research goals are to discover the genetic basis of Mendelian and complex human diseases and traits and to use this knowledge to better understand the biology underlying such diseases and potentially reveal new targets for therapeutic intervention.  

I began my career at the Wellcome Trust Sanger Institute where I undertook my PhD in the genetics of metabolic diseases.  Here I performed candidate gene association studies and sequencing in type 2 diabetes, obesity, and Mendelian-like metabolic diseases.  During my subsequent post-doctoral roles at UCL and at CGAT in Oxford I learnt to analyse and interpret next-generation sequencing data from patients with neurological diseases through a variety of collaborative projects with groups in Cardiff, Oxford and London.

I have now joined Martin Tobin and Louise Wain’s group in the Department of Health Sciences at the University of Leicester where I am keen to use my computational genomics experience to investigate common, complex respiratory diseases and traits and to integrate results from genome-wide association studies with other large biological datasets, such as functional genomics data.


Fry AE*, Fawcett KA*, Zelnik N, Yuan H, Shemer-Meiri L, Thompson BAN, Cushion T, Colley J, Ashelford K, Stoodley N, Chung S, Rees MI, Patel CV, Brueton LA, Layet V, Giuliano F, Lemke JR, Kerr MP, Banne E, Meiner V, Mackenzie AB, Mullins JG, Traynelis S, Bahi-Buisson N, Iago HF, Pilz DT. De novo mutations in GRIN1 cause polymicrogyria. Brain. Accepted. * = joint first authorship

Rocha N, Payne F, Huang-Doran I, Sleigh A, Fawcett K, Adams C, Stears A, Saudek V, O’Rahilly S, Barroso I, Semple RK. ARL15 knockdown impairs both preadipocyte differentiation and adiponectin production from differentiated adipocytes. Sci Rep. Accepted

Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Dominant mutations in GRM1 cause a cerebellar ataxia with novel therapeutic potential. Am J Hum Genet. In press

Anderson DG, Németh AH, Fawcett KA, Sims D, Miller J,  Krause A,  Slabbert P (2016). Deepbrain stimulation in 3 related cases of North Sea progressive myoclonic epilepsy from South Africa. Movement Disorders Clinical Practice. In press

Jaffer F, Fawcett K, Heger A, Holden H, Hanna MG, Kingston H, Sisodiya SM (2017). Familial childhood-onset progressive cerebellar syndrome associated with ATP1A3 mutation. Neurol Genet. 3(2):e145

Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH (2015). De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain. 138(Pt 7):1817-32

Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Németh A, Chinnery PF (2015). SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 84(11):1174-6

Sims D, Ilott NE, Sansom SN, Sudbery IM, Johnson JS, Fawcett KA, Berlanga-Taylor AJ, Luna-Valero S, Ponting CP, Heger A (2014). CGAT: computational genomics analysis toolkit.  Bioinformatics. 30(9):1290-1

Liu YT, Hersheson J, Plagnol V, Fawcett K, Duberley KE, Preza E, Hargreaves IP, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H (2014). Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. J Neurol Neurosurg Psychiatry. 85(5):493-8

Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H (2013). A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 93(5):976-83

Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H (2013). Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol. 73(4):546-53

Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H (2013). The frequency of spinocerebellar ataxia type 23 in a UK population. J Neurol. 260(3):856-9

Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H (2013). Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat. 34(2):296-300

Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H (2012). Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. J Neurol Neurosurg Psychiatry. 83(12):1204-9

Murphy SM, Laura M, Fawcett K, Pandraud A, Liu Y, Davidson G, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake J,  Houlden H, Reilly MM (2012). Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 83(7):706-10

Bonnefond A, Clément N, Fawcett K, Yengo L, Vaillant E, Guillaume JL, Dechaume A, Payne F, Roussel R, Czernichow S, Hercberg S, Hadjadj S, Balkau B, Marre M, Lantieri O, Langenberg C, Bouatia-Naji N, Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC), Charpentier G, Vaxillaire M, Rocheleau G, Wareham NJ, Sladek R, McCarthy MI, Dina C, Barroso I, Jockers R, Froguel P (2012). Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes. Nat Genet. 44(3):297-301

Fawcett KA, Barroso I (2010). The genetics of obesity: FTO leads the way. Trends Genet. 26(6):266-74

Dash S, Langenberg C, Fawcett KA, Semple RK, Romeo S, Sharp S, Sano H, Lienhard GE, Rochford JJ, Howlett T, Massoud AF, Hindmarsh P, Howell SJ, Wilkinson RJ, Lyssenko V, Groop L, Baroni MG, Barroso I, Wareham NJ, O'Rahilly S, Savage DB (2010). Analysis of TBC1D4 in patients with severe insulin resistance. Diabetologia. 53(6):1239-42

Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G, Rolandsson O, Daly A, Wasson J, Permutt MA, Hattersley AT, Glaser B, Franks PW, McCarthy MI, Wareham NJ, Sandhu MS, Barroso I (2010). Detailed investigation of the role of common and low frequency WFS1 variants in type 2 diabetes risk. Diabetes. 59(3)741-6

Dash S, Sano H, Rochford JJ, Semple RK, Yeo G, Hyden CS, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett KA, Tung YC, Wareham NJ, Barroso I, Lienhard GE, O'Rahilly S, Savage DB (2009). A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia. Proc Natl Acad Sci U S A. 106(23):9350-5

Fawcett KA, Grimsey N, Loos RJ, Wheeler E, Daly A, Soos M, Semple R, Syddall H, Cooper C, Siniossoglou S, O'Rahilly S, Wareham NJ, Barroso I (2008). Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations. Diabetes. 57(9):2527-33

Franks PW, Rolandsson O, Debenham SL, Fawcett KA, Payne F, Dina C, Froguel P, Mohlke KL, Willer C, Olsson T, Wareham NJ, Hallmans G, Barroso I, Sandhu MS (2008). Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Diabetologia. 51(3):458-63

Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I (2007). Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 39(8):951-3

Fawcett KA, Wareham NJ, Luan J, Syddall H, Cooper C, O'Rahilly S, Day IN, Sandhu MS, Barroso I (2006). PARL Leu262Val is not associated with fasting insulin levels in UK populations. Diabetologia. 49(11):2649-52

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