Dr Kate Everett investigates common disorders that have a complex genetic cause. She was appointed Senior Lecturer in Human Genetics in 2010.
Dr Everett’s research focuses on the genetic basis of common childhood epilepsies – including childhood absence epilepsy (CAE) and juvenile myoclonic epilepsy (JME) – and infantile hypertrophic pyloric stenosis (IHPS).
Epilepsy is a common neurological condition that affects one in 200 people at some time in their life. Dr Everett maps genes using DNA collected from families in which at least two people have CAE or JME, and DNA donated by 'trios' – families with unaffected parents and a single, affected child. She uses linkage and autozygosity analysis and association studies, as well as exome sequencing techniques, to identify mutations.
She was involved in EPICURE (Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies), a European consortium of research groups funded by the European Commission to investigate the genetic causes of, and mechanisms involved in, epilepsy in order to inform the development of new treatments.
IHPS is known to have both genetic and environmental causes. The pylorus is found at the base of the stomach and controls the movement of food from the stomach into the intestines. Some infants have over-growth of the pylorus, preventing food from leaving the stomach. The child suffers from projectile vomiting and malnutrition if the condition is not treated. Members of Dr Everett’s research team have identified four of the five genetic loci shown to contain genes that cause IHPS.
Dr Everett came to St George's from University College London (UCL), where she was a lecturer in human molecular genetics for four years (2006 to 2010). During that time, she set up a research group investigating the genetics of epilepsy, and was involved in the development of projects related to congenital disorders such as infantile hypertrophic pyloric stenosis (IHPS) and asphyxiating thoracic dystrophy (Jeune’s syndrome). The former is a common gut problem in infants and the most common cause of surgery in under-one-year-olds. The latter is an inherited disorder that affects bone growth and can cause life-threatening breathing problems.
Dr Everett had previously worked as a postdoctoral research fellow at UCL, investigating the genetic causes of childhood absence epilepsy.
She obtained her PhD in 2004 from the University of Cambridge: her research investigated the genetic relationship between naevus count ('moleliness') and cutaneous malignant melanoma.
Prior to her PhD studies, Dr Everett spent a year working for start-up virology company Virco UK, sequencing viral DNA donated by patients with HIV, searching for mutations that would lead to drug resistance.
Everett KV, Chung EM. Confirmation of two novel loci for infantile hypertrophic pyloric stenosis on chromosomes 3 and 5. J Hum Genet. 2013, Apr; 58(4): 236-7.
EPICURE Consortium; EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet. 2012, Dec 15; 21(24): 5359-72.
EPICURE Consortium, Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia. 2012, Feb; 53(2): 308-18.
Chioza BA, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley JM, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis ML, Guerrini R, Kjeldsen MJ, Nabbout R, Nashef L, Sander T, Sirén A, Wirrell E, McKeigue P, Robinson R, Gardiner RM, Everett KV. Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Res. 2009, Dec; 87(2-3): 247-55.
Everett KV, Chioza BA, Georgoula C, Reece A, Gardiner RM, Chung EM. Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing. Hum Genet. 2009, Dec; 126(6): 819-31.
Everett KV, Capon F, Georgoula C, Chioza BA, Reece A, Jaswon M, Pierro A, Puri P, Gardiner RM, Chung EM. Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur J Hum Genet. 2008, Sep; 16(9): 1151-4.
EPICURE Consortium; EMINet Consortium (40 authors), Everett KV, (49 authors). Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet. 2012, Dec 15; 21(24): 5359-72.
Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, Puri P, Mitchison HM, Chung EM, Gardiner RM. Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. Am J Hum Genet. 2008, 82, 756-762.
Everett KV, Chioza B, (23 authors), Gardiner M. Linkage and association analysis of CACNG3 in childhood absence epilepsy. Eur J Hum Genet. 2007, 15, 463-472.
On research into epilepsy, Dr Everett collaborates with the following people.
Dr Robert Robinson, consultant in paediatric neurology and complex epilepsy, Great Ormond Street Hospital for Children NHS Foundation Trust
Professor Anne Stephenson, professor of pharmaceutical and biological chemistry, UCL School of Pharmacy, London
Professor Deb Pal, professor in epilepsy, Institute of Psychiatry, King’s College London
She also works collaboratively with Dr Frances Elmslie, a consultant in genetics at St George’s University Hospitals NHS Foundation Trust.
For her research focusing on infantile hypertrophic pyloric stenosis, Dr Everett works with Dr Paris Ataliotis, a senior lecturer in developmental genetics in the Biomedical Sciences Research Centre at St George's, and with Dr Eddie Chung, senior clinical lecturer in UCL's School of Life and Medical Sciences.
Identification of candidate genes and disease-causing mutations for juvenile myoclonic epilepsy
Awarded to K Everett, R Robinson (co-applicant)
Action Medical Research
November 2009 to October 2010, £54,770
Identification of disease genes for Asphyxiating Thoracic Dystrophy (Jeune syndrome)
Awarded to K Everett, H Mitchison and P Scambler (co-applicant)
April 2009 to April 2010, £55,448
Association analysis and mutation screening of TRAK1 in childhood absence epilepsy
Awarded to K Everett
Epilepsy Research UK
May 2008 to April 2009, £54,340
Dr Everett organises the Human Medical Genetics module offered to Biomedical Science undergraduate students and medical students who choose to undertake an intercalated BSc, and also delivers lectures and tutorials.
She supervises third year students in their laboratory-based research projects and is the overall organiser for all genetics-based undergraduate projects.
She also gives lectures to medical students and students on the Biomedical Science BSc course about Genetic evolution and genetic structure; Application of molecular biology to medicine; and Use of linked markers in genetic disease, and delivers scenario-based learning.
Dr Everett is the admissions tutor for the BSc (Hons) Biomedical Science (International), an INTO SGUL programme. INTO SGUL offer additional spaces to international students onto BSc (Hons) Biomedical Science and MBBS programmes.