Dr Elspeth Bruford

Director of Research and Coordinator of HGNC

Dr Elspeth Bruford has led the HUGO Gene Nomenclature Committee (HGNC) since 2007. She oversaw HGNC’s move from University College London to the EMBL European Bioinformatics Institute in 2007 and its more recent transition to the University of Cambridge which was completed in 2023. Under her leadership it has grown to a substantial team of postdoctoral nomenclature advisors and bioinformaticians, providing an informed and authoritative service to the scientific community and recognised as the preeminent resource for human gene nomenclature. Most recently she has also been responsible for HGNC's expansion into animal gene nomenclature as the Vertebrate Gene Nomenclature Committee.

 HGNC is the sole authority responsible for standardised and unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes. It has approved nomenclature for a total of almost 44,000 loci, including around 19,000 protein coding genes. HGNC maintains a searchable database of gene symbols and provides nomenclature for newly discovered loci for researchers worldwide. Most recently the HGNC has been recognized as a Global Core Biodata Resource by the Global Biodata Coalition and is an ELIXIR-UK Core Service.

Dr Bruford has a PhD in the genetics of retinal disease from the University of Edinburgh (MRC Human Genetics Unit). Her postdoctoral training was completed at University College London. She was a PI and Group Coordinator at EMBL-EBI from 2007. She was appointed as a Director of Research in the Department of Haematology in 2018. Elspeth is currently a member of the Human Genome Organisation (HUGO) Executive Board and serves on a number of international committees related to nomenclature and standardization, including co-chairing the HUGO Nomenclature Standards Committee. She is also an Executive Associate Editor for the journal Human Genomics.

Publications

Jones TEM, Yates B, Braschi B, Gray K, Tweedie S, Seal RL, Bruford EA. The VGNC: expanding standardized vertebrate gene nomenclature. Genome Biol. 2023 May 12;24(1):115. doi: 10.1186/s13059-023-02957-2.

McCarthy FM, Jones TEM, Kwitek AE, Smith CL, Vize PD, Westerfield M, Bruford EA. The case for standardizing gene nomenclature in vertebrates. Nature. 2023 Feb;614(7948):E31-E32. doi: 10.1038/s41586-022-05633-w.

Seal RL, Braschi B, Gray K, Jones TEM, Tweedie S, Haim-Vilmovsky L, Bruford EA. Genenames.org: the HGNC resources in 2023. Nucleic Acids Res. 2023 Jan 6;51(D1):D1003-D1009. doi: 10.1093/nar/gkac888.

Braschi B, Bruford EA, Cavanagh AT, Neuman SD, Bashirullah A. The bridge-like lipid transfer protein (BLTP) gene group: introducing new nomenclature based on structural homology indicating shared function. Hum Genomics. 2022 Dec 2;16(1):66. doi: 10.1186/s40246-022-00439-3.

Bruford EA, Braschi B, Haim-Vilmovsky L, Jones TEM, Seal RL, Tweedie S. The importance of being the HGNC. Hum Genomics. 2022 Nov 15;16(1):58. doi: 10.1186/s40246-022-00432-w.

Dornburg A, Mallik R, Wang Z, Bernal MA, Thompson B, Bruford EA, Nebert DW, Vasiliou V, Yohe LR, Yoder JA, Townsend JP. Placing human gene families into their evolutionary context. Hum Genomics. 2022 Nov 11;16(1):56. doi: 10.1186/s40246-022-00429-5.

Seal RL, Denny P, Bruford EA, Gribkova AK, Landsman D, Marzluff WF, McAndrews M, Panchenko AR, Shaytan AK, Talbert PB. A standardized nomenclature for mammalian histone genes. Epigenetics Chromatin. 2022 Oct 1;15(1):34. doi: 10.1186/s13072-022-00467-2.

Seal RL, Tweedie S, Bruford EA. A standardised nomenclature for long non-coding RNAs. IUBMB Life. 2023 May;75(5):380-389. doi: 10.1002/iub.2663. Epub 2022 Jul 26.

Nevers Y, Jones TEM, Jyothi D, Yates B, Ferret M, Portell-Silva L, Codo L, Cosentino S, Marcet-Houben M, Vlasova A, Poidevin L, Kress A, Hickman M, Persson E, Piližota I, Guijarro-Clarke C; OpenEBench team the Quest for Orthologs Consortium; Iwasaki W, Lecompte O, Sonnhammer E, Roos DS, Gabaldón T, Thybert D, Thomas PD, Hu Y, Emms DM, Bruford E, Capella-Gutierrez S, Martin MJ, Dessimoz C, Altenhoff A. The Quest for Orthologs orthology benchmark service in 2022. Nucleic Acids Res. 2022 Jul 5;50(W1):W623-W632. doi: 10.1093/nar/gkac330.

DiStefano MT, Goehringer S, Babb L, Alkuraya FS, Amberger J, Amin M, Austin-Tse C, Balzotti M, Berg JS, Birney E, Bocchini C, Bruford EA, Coffey AJ, Collins H, Cunningham F, Daugherty LC, Einhorn Y, Firth HV, Fitzpatrick DR, Foulger RE, Goldstein J, Hamosh A, Hurles MR, Leigh SE, Leong IUS, Maddirevula S, Martin CL, McDonagh EM, Olry A, Puzriakova A, Radtke K, Ramos EM, Rath A, Riggs ER, Roberts AM, Rodwell C, Snow C, Stark Z, Tahiliani J, Tweedie S, Ware JS, Weller P, Williams E, Wright CF, Yates TM, Rehm HL. The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017.

Braschi B, Omran H, Witman GB, Pazour GJ, Pfister KK, Bruford EA, King SM. Consensus nomenclature for dyneins and associated assembly factors. J Cell Biol. 2022 Feb 7;221(2):e202109014. doi: 10.1083/jcb.202109014.

Ho M, Thompson B, Fisk JN, Nebert DW, Bruford EA, Vasiliou V, Bunick CG. Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders. Hum Genomics. 2022 Jan 6;16(1):1. doi: 10.1186/s40246-021-00374-9.

Braschi B, Seal RL, Tweedie S, Jones TEM, Bruford EA. The risks of using unapproved gene symbols. Am J Hum Genet. 2021 Oct 7;108(10):1813-1816. doi: 10.1016/j.ajhg.2021.09.004.

Bruford EA, Antonescu CR, Carroll AJ, Chinnaiyan A, Cree IA, Cross NCP, Dalgleish R, Gale RP, Harrison CJ, Hastings RJ, Huret JL, Johansson B, Le Beau M, Mecucci C, Mertens F, Verhaak R, Mitelman F. HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions. Leukemia. 2021 Nov;35(11):3040-3043. doi: 10.1038/s41375-021-01436-6.

Yates B, Gray KA, Jones TEM, Bruford EA. Updates to HCOP: the HGNC comparison of orthology predictions tool. Brief Bioinform. 2021 Nov 5;22(6):bbab155. doi: 10.1093/bib/bbab155.

Fujiyoshi K, Bruford EA, Mroz P, Sims CL, O'Leary TJ, Lo AWI, Chen N, Patel NR, Patel KP, Seliger B, Song M, Monzon FA, Carter AB, Gulley ML, Mockus SM, Phung TL, Feilotter H, Williams HE, Ogino S. Opinion: Standardizing gene product nomenclature-a call to action. Proc Natl Acad Sci U S A. 2021 Jan 19;118(3):e2025207118. doi: 10.1073/pnas.2025207118.

Tweedie S, Braschi B, Gray K, Jones TEM, Seal RL, Yates B, Bruford EA. Genenames.org: the HGNC and VGNC resources in 2021. Nucleic Acids Res. 2021 Jan 8;49(D1):D939-D946. doi: 10.1093/nar/gkaa980.

Bruford EA, Braschi B, Denny P, Jones TEM, Seal RL, Tweedie S. Guidelines for human gene nomenclature. Nat Genet. 2020 Aug;52(8):754-758. doi: 10.1038/s41588-020-0669-3.

Thompson B, Davidson EA, Liu W, Nebert DW, Bruford EA, Zhao H, Dermitzakis ET, Thompson DC, Vasiliou V. Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease. Hum Genet. 2021 Mar;140(3):381-400. doi: 10.1007/s00439-020-02212-9.

Seal RL, Chen LL, Griffiths-Jones S, Lowe TM, Mathews MB, O'Reilly D, Pierce AJ, Stadler PF, Ulitsky I, Wolin SL, Bruford EA. A guide to naming human non-coding RNA genes. EMBO J. 2020 Mar 16;39(6):e103777. doi: 10.15252/embj.2019103777.

Charkoftaki G, Wang Y, McAndrews M, Bruford EA, Thompson DC, Vasiliou V, Nebert DW. Update on the human and mouse lipocalin (LCN) gene family, including evidence the mouse Mup cluster is result of an "evolutionary bloom". Hum Genomics. 2019 Feb 19;13(1):11. doi: 10.1186/s40246-019-0191-9.

Pujar S, O'Leary NA, Farrell CM, Loveland JE, Mudge JM, Wallin C, Girón CG, Diekhans M, Barnes I, Bennett R, Berry AE, Cox E, Davidson C, Goldfarb T, Gonzalez JM, Hunt T, Jackson J, Joardar V, Kay MP, Kodali VK, Martin FJ, McAndrews M, McGarvey KM, Murphy M, Rajput B, Rangwala SH, Riddick LD, Seal RL, Suner MM, Webb D, Zhu S, Aken BL, Bruford EA, Bult CJ, Frankish A, Murphy T, Pruitt KD. Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation. Nucleic Acids Res. 2018 Jan 4;46(D1):D221-D228. doi: 10.1093/nar/gkx1031.

Yates B, Braschi B, Gray KA, Seal RL, Tweedie S, Bruford EA. Genenames.org: the HGNC and VGNC resources in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D619-D625. doi: 10.1093/nar/gkw1033.

The RNAcentral Consortium; Petrov AI, Kay SJE, Kalvari I, Howe KL, Gray KA, Bruford EA, Kersey PJ, Cochrane G, Finn RD, Bateman A, Kozomara A, Griffiths-Jones S, Frankish A, Zwieb CW, Lau BY, Williams KP, Chan PP, Lowe TM, Cannone JJ, Gutell R, Machnicka MA, Bujnicki JM, Yoshihama M, Kenmochi N, Chai B, Cole JR, Szymanski M, Karlowski WM, Wood V, Huala E, Berardini TZ, Zhao Y, Chen R, Zhu W, Paraskevopoulou MD, Vlachos IS, Hatzigeorgiou AG, Ma L, Zhang Z, Puetz J, Stadler PF, McDonald D, Basu S, Fey P, Engel SR, Cherry JM, Volders PJ, Mestdagh P, Wower J, Clark MB, Quek XC, Dinger ME. RNAcentral: a comprehensive database of non-coding RNA sequences. Nucleic Acids Res. 2017 Jan 4;45(D1):D128-D134. doi: 10.1093/nar/gkw1008.

Gladyshev VN, Arnér ES, Berry MJ, Brigelius-Flohé R, Bruford EA, Burk RF, Carlson BA, Castellano S, Chavatte L, Conrad M, Copeland PR, Diamond AM, Driscoll DM, Ferreiro A, Flohé L, Green FR, Guigó R, Handy DE, Hatfield DL, Hesketh J, Hoffmann PR, Holmgren A, Hondal RJ, Howard MT, Huang K, Kim HY, Kim IY, Köhrle J, Krol A, Kryukov GV, Lee BJ, Lee BC, Lei XG, Liu Q, Lescure A, Lobanov AV, Loscalzo J, Maiorino M, Mariotti M, Sandeep Prabhu K, Rayman MP, Rozovsky S, Salinas G, Schmidt EE, Schomburg L, Schweizer U, Simonović M, Sunde RA, Tsuji PA, Tweedie S, Ursini F, Whanger PD, Zhang Y. Selenoprotein Gene Nomenclature. J Biol Chem. 2016 Nov 11;291(46):24036-24040. doi: 10.1074/jbc.M116.756155.

Nebert DW, Dong H, Bruford EA, Thompson DC, Joenje H, Vasiliou V. Letter to the editor for "Update of the human and mouse Fanconi anemia genes". Hum Genomics. 2016 Jul 4;10(1):25. doi: 10.1186/s40246-016-0081-3.

Loughner CL, Bruford EA, McAndrews MS, Delp EE, Swamynathan S, Swamynathan SK. Organization, evolution and functions of the human and mouse Ly6/uPAR family genes. Hum Genomics. 2016 Apr 21;10:10. doi: 10.1186/s40246-016-0074-2.

Gray KA, Seal RL, Tweedie S, Wright MW, Bruford EA. A review of the new HGNC gene family resource. Hum Genomics. 2016 Feb 3;10:6. doi: 10.1186/s40246-016-0062-6.

Dong H, Nebert DW, Bruford EA, Thompson DC, Joenje H, Vasiliou V. Update of the human and mouse Fanconi anemia genes. Hum Genomics. 2015 Nov 24;9:32. doi: 10.1186/s40246-015-0054-y.

Krupska I, Bruford EA, Chaqour B. Eyeing the Cyr61/CTGF/NOV (CCN) group of genes in development and diseases: highlights of their structural likenesses and functional dissimilarities. Hum Genomics. 2015 Sep 23;9:24. doi: 10.1186/s40246-015-0046-y.

Bruford EA, Lane L, Harrow J. Devising a Consensus Framework for Validation of Novel Human Coding Loci. J Proteome Res. 2015 Dec 4;14(12):4945-8. doi: 10.1021/acs.jproteome.5b00688.

Gray KA, Yates B, Seal RL, Wright MW, Bruford EA. Genenames.org: the HGNC resources in 2015. Nucleic Acids Res. 2015 Jan;43(Database issue):D1079-85. doi: 10.1093/nar/gku1071.

RNAcentral Consortium; Petrov AI, Kay SJE, Gibson R, Kulesha E, Staines D, Bruford EA, Wright MW, Burge S, Finn RD, Kersey PJ, Cochrane G, Bateman A, Griffiths-Jones S, Harrow J, Chan PP, Lowe TM, Zwieb CW, Wower J, Williams KP, Hudson CM, Gutell R, Clark MB, Dinger M, Quek XC, Bujnicki JM, Chua NH, Liu J, Wang H, Skogerbø G, Zhao Y, Chen R, Zhu W, Cole JR, Chai B, Huang HD, Huang HY, Cherry JM, Hatzigeorgiou A, Pruitt KD. RNAcentral: an international database of ncRNA sequences. Nucleic Acids Res. 2015 Jan;43(Database issue):D123-9. doi: 10.1093/nar/gku991.

MacArthur JA, Morales J, Tully RE, Astashyn A, Gil L, Bruford EA, Larsson P, Flicek P, Dalgleish R, Maglott DR, Cunningham F. Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants. Nucleic Acids Res. 2014 Jan;42(Database issue):D873-8. doi: 10.1093/nar/gkt1198.

Dhanoa BS, Cogliati T, Satish AG, Bruford EA, Friedman JS. Update on the Kelch-like (KLHL) gene family. Hum Genomics. 2013 May 15;7(1):13. doi: 10.1186/1479-7364-7-13.

Seal RL, Wright MW, Gray KA, Bruford EA. Vive la différence: naming structural variants in the human reference genome. Hum Genomics. 2013 May 1;7(1):12. doi: 10.1186/1479-7364-7-12.

Hediger MA, Clémençon B, Burrier RE, Bruford EA. The ABCs of membrane transporters in health and disease (SLC series): introduction. Mol Aspects Med. 2013 Apr-Jun;34(2-3):95-107. doi: 10.1016/j.mam.2012.12.009.

Daugherty LC, Seal RL, Wright MW, Bruford EA. Gene family matters: expanding the HGNC resource. Hum Genomics. 2012 Jul 5;6(1):4. doi: 10.1186/1479-7364-6-4.

Gray KA, Daugherty LC, Gordon SM, Seal RL, Wright MW, Bruford EA. Genenames.org: the HGNC resources in 2013. Nucleic Acids Res. 2013 Jan;41(Database issue):D545-52. doi: 10.1093/nar/gks1066.

Klionsky DJ, Bruford EA, Cherry JM, Hodgkin J, Laulederkind SJ, Singer AG. In the beginning there was babble. Autophagy. 2012 Aug;8(8):1165-7. doi: 10.4161/auto.20665.

Bateman A, Agrawal S, Birney E, Bruford EA, Bujnicki JM, Cochrane G, Cole JR, Dinger ME, Enright AJ, Gardner PP, Gautheret D, Griffiths-Jones S, Harrow J, Herrero J, Holmes IH, Huang HD, Kelly KA, Kersey P, Kozomara A, Lowe TM, Marz M, Moxon S, Pruitt KD, Samuelsson T, Stadler PF, Vilella AJ, Vogel JH, Williams KP, Wright MW, Zwieb C. RNAcentral: A vision for an international database of RNA sequences. RNA. 2011 Nov;17(11):1941-6. doi: 10.1261/rna.2750811.

Wright MW, Bruford EA. Naming 'junk': human non-protein coding RNA (ncRNA) gene nomenclature. Hum Genomics. 2011 Jan;5(2):90-8. doi: 10.1186/1479-7364-5-2-90.

Seal RL, Gordon SM, Lush MJ, Wright MW, Bruford EA. genenames.org: the HGNC resources in 2011. Nucleic Acids Res. 2011 Jan;39(Database issue):D514-9. doi: 10.1093/nar/gkq892.

Bruford EA. Highlights of the 'gene nomenclature across species' meeting. Hum Genomics. 2010 Feb;4(3):213-7. doi: 10.1186/1479-7364-4-3-213.

Kampinga HH, Hageman J, Vos MJ, Kubota H, Tanguay RM, Bruford EA, Cheetham ME, Chen B, Hightower LE. Guidelines for the nomenclature of the human heat shock proteins. Cell Stress Chaperones. 2009 Jan;14(1):105-11. doi: 10.1007/s12192-008-0068-7.

Bruford EA, Lush MJ, Wright MW, Sneddon TP, Povey S, Birney E. The HGNC Database in 2008: a resource for the human genome. Nucleic Acids Res. 2008 Jan;36(Database issue):D445-8. doi: 10.1093/nar/gkm881.

Holland PW, Booth HA, Bruford EA. Classification and nomenclature of all human homeobox genes. BMC Biol. 2007 Oct 26;5:47. doi: 10.1186/1741-7007-5-47.

Davies KJ, Ermak G, Rothermel BA, Pritchard M, Heitman J, Ahnn J, Henrique-Silva F, Crawford D, Canaider S, Strippoli P, Carinci P, Min KT, Fox DS, Cunningham KW, Bassel-Duby R, Olson EN, Zhang Z, Williams RS, Gerber HP, Pérez-Riba M, Seo H, Cao X, Klee CB, Redondo JM, Maltais LJ, Bruford EA, Povey S, Molkentin JD, McKeon FD, Duh EJ, Crabtree GR, Cyert MS, de la Luna S, Estivill X. Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin. FASEB J. 2007 Oct;21(12):3023-8. doi: 10.1096/fj.06-7246com.

Eyre TA, Wright MW, Lush MJ, Bruford EA. HCOP: a searchable database of human orthology predictions. Brief Bioinform. 2007 Jan;8(1):2-5. doi: 10.1093/bib/bbl030.

Wright MW, Bruford EA. Human and orthologous gene nomenclature. Gene. 2006 Mar 15;369:1-6. doi: 10.1016/j.gene.2005.10.029.

Eyre TA, Ducluzeau F, Sneddon TP, Povey S, Bruford EA, Lush MJ. The HUGO Gene Nomenclature Database, 2006 updates. Nucleic Acids Res. 2006 Jan 1;34(Database issue):D319-21. doi: 10.1093/nar/gkj147.

Wright MW, Eyre TA, Lush MJ, Povey S, Bruford EA. HCOP: the HGNC comparison of orthology predictions search tool. Mamm Genome. 2005 Nov;16(11):827-8. doi: 10.1007/s00335-005-0103-2.

Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA et al. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. doi: 10.1038/nature03440.

Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, Lush MJ, Povey S, Talbot CC Jr, Wright MW, Wain HM, Trowsdale J, Ziegler A, Beck S. Gene map of the extended human MHC. Nat Rev Genet. 2004 Dec;5(12):889-99. doi: 10.1038/nrg1489.

Hediger MA, Romero MF, Peng JB, Rolfs A, Takanaga H, Bruford EA. The ABCs of solute carriers: physiological, pathological and therapeutic implications of human membrane transport proteinsIntroduction. Pflugers Arch. 2004 Feb;447(5):465-8. doi: 10.1007/s00424-003-1192-y.

Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S. Guidelines for human gene nomenclature. Genomics. 2002 Apr;79(4):464-70. doi: 10.1006/geno.2002.6748.

Montell C, Birnbaumer L, Flockerzi V, Bindels RJ, Bruford EA, Caterina MJ, Clapham DE, Harteneck C, Heller S, Julius D, Kojima I, Mori Y, Penner R, Prawitt D, Scharenberg AM, Schultz G, Shimizu N, Zhu MX. A unified nomenclature for the superfamily of TRP cation channels. Mol Cell. 2002 Feb;9(2):229-31. doi: 10.1016/s1097-2765(02)00448-3.

Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics. 1997 Apr 1;41(1):93-9. doi: 10.1006/geno.1997.4613.

Fantes JA, Oghene K, Boyle S, Danes S, Fletcher JM, Bruford EA, Williamson K, Seawright A, Schedl A, Hanson I, et al. A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. Genomics. 1995 Jan 20;25(2):447-61. doi: 10.1016/0888-7543(95)80045-n.