Katherine Fawcett


Kath Fawcett

Contact Details

Research Fellow

Genetic Epidemiology Group

Department of Health Sciences
University of Leicester
George Davies Centre
University Road
Leicester LE1 7RH

Tel: 00 44 116 252 3214

Email: kaf19@leicester.ac.uk


Asthma is a major global health challenge affecting over 300 million people worldwide. Existing therapies often provide sub-optimal control of symptoms and approximately 5-10% of people with asthma do not respond to currently available treatments. My research goals are to understand the genetic basis of susceptibility to asthma and asthma subtypes, and to use this knowledge to guide development of new treatments. I currently hold an Asthma UK Fellowship to study the role of structural variation in asthma using cutting-edge computational and laboratory-based methods. Structural variation is a potentially important contributor to asthma susceptibility, but its role in common, complex diseases remains understudied. I am using large-scale next-generation sequencing datasets and large population-based and patient cohorts to identify structural variations and to understand their role in asthma pathogenesis.

I collaborate closely with other members of the Genetic Epidemiology Group, as well as Dr Ed Hollox (Department of Genetics and Genome Biology, University of Leicester) and Prof. Ian Sayers (University of Nottingham).


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 joined the Genetic Epidemiology Group at Leicester in 2017 and have held an Asthma UK Fellowship since the end of 2019.


Fawcett KA, Song K, Qian G, Farmaki A-E, Packer R, John C, Shrine N, Granell R, Ring S, Timpson NJ, Yerges-Armstrong LM, Eastell R, Wain LV, Scott RA, Tobin MD, Hall IP. (2020) Pleiotropic effects of heterozygosity for the SERPINA1 Z allele in the UK Biobank.  Pre-print https://doi.org/10.1101/2020.06.04.20115923

Fawcett KA, Obeidat M, Melbourne C et al. Variants associated with HHIP expression have sex-differential effects on lung function [version 1; peer review: 1 approved] Wellcome Open Res 2020, 5:111 (https://doi.org/10.12688/wellcomeopenres.15846.1)

Zaman T, Helbig KL, Clatot J, …, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM. SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation. Ann Neurol. 2020 Jun 8. doi: 10.1002/ana.25809. Epub ahead of print. PMID: 32515017.

Vandervore LV, Schot R, Milanese C, …, Fawcett KA et al. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. Am J Hum Genet. 2019 Dec 5;105(6):1126-1147. doi: 10.1016/j.ajhg.2019.10.009. Epub 2019 Nov 14. PMID: 31735293; PMCID: PMC6904804.

Shrine N*, Guyatt AL*, Erzurumluoglu AM, Jackson VE, Hobbs BD, Melbourne CA, Batini C, Fawcett KA et al. (2018).  New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.  Nat Genet. 51(3):481-493

Fry AE, Fawcett KA et al. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 Mar 1;141(3):698-712. doi: 10.1093/brain/awx358. PMID: 29365063; PMCID: PMC5837214.

Rocha N, Payne F, Huang-Doran I, Sleigh A, Fawcett K et al. The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. Sci Rep. 2017 Dec 14;7(1):17593. doi: 10.1038/s41598-017-17746-8. PMID: 29242557; PMCID: PMC5730586.

Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K et al. Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. Am J Hum Genet. 2017 Nov 2;101(5):866. doi: 10.1016/j.ajhg.2017.10.008. Erratum for: Am J Hum Genet. 2017 Sep 7;101(3):451-458. PMID: 29100096; PMCID: PMC5673670.

Anderson DG, Németh AH, Fawcett KA, Sims D, Miller J, Krause A. Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa. Mov Disord Clin Pract. 2016 Jun 16;4(2):249-253. doi: 10.1002/mdc3.12372. PMID: 30838261; PMCID: PMC6353414.

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 et al. (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 et al. (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 et al. (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 et al. (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 et al. (2013). Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol. 73(4):546-53

Fawcett K et al. (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 et al. (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 et al. (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 et al. (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 et al. (2010). Analysis of TBC1D4 in patients with severe insulin resistance. Diabetologia. 53(6):1239-42

Fawcett KA et al. (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 et al. (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 et al. (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 et al. (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 et al. (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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