https://www.gosh.nhs.uk/our-people/staff-z/emma-footitt/

Emma Footitt

Dr Emma footitt

Dr Footitt trained at Guy’s and St Thomas’s Medical School and subsequently undertook general paediatric training in South London. She trained in metabolic medicine at Great Ormond Street Hospital (GOSH) and Evelina Children’s Hospital from 2007 and was appointed as a Paediatric metabolic consultant at GOSH in 2014.

Specialisms

  • Vitamin B6 dependent epilepsies
  • Neurometabolic conditions
  • Lipid metabolism

Qualifications

  • Intercalated BSc Psychology 1997
  • MB BS 2000, University of London
  • MSc Institute of Child Health UCL
  • PhD 2013 University College London

Research Interests

Dr Footitt focussed on Vitamin B6 dependent epilepsies during her PhD and this remains an ongoing research interest. She works alongside a group of international experts in the PDE consortium to improve outcomes for this patient group and is also working with the UCL School of Pharmacy to develop improved, child friendly vitamin B6 formulations. Dr Footitt is leading the Guideline Writing Group for ‘Diagnosis and Management of PNPO Deficiency’.

Publications

  1. Coughlin CR 2nd, Tseng LA, Bok LA, et al. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy [published online ahead of print, 2022 Aug 25]. Neurology. 2022;10.1212/WNL.0000000000201222. doi:10.1212/WNL.0000000000201222
  2. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM. Mol Genet Metab. 2022 Apr;135(4):350-356.
  3. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F,
    Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. J Inherit Metab Dis. 2021 Jan;44(1):178-19
  4. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT. Brain. 2010 Jul;133(Pt 7):2148-5
  5. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337.
  6. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT. Brain. 2014 May;137(Pt 5):1350-60
  7. Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy Abeer H A Mohamed-Ahmed 1, Matthew P Wilson 2, Maedelyn Albuera 1, Ting Chen 1, Philippa B Mills 2, Emma J Footitt 3, Peter T Clayton 2, Catherine Tuleu. J Pharm Pharmacol 2017 Apr;69(4):480-488.
  8. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. 100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M. N Engl J Med. 2021 Nov 11;385(20):1868-1880
  9. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. Forny P, Footitt E, Davison JE, Lam A, Woodward CE, Batzios S, Bhate S, Chakrapani A, Cleary M, Gissen P, Grunewald S, Hurst JA, Scott R, Heales S, Jacques TS, Cullup T, Rahman S.Neurol Genet. 2021 May 25;7(3)