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Professor Karen Steel

Team

Annalisa Buniello/Research Associate
Jing Chen/Research Associate 
Seham Ebrahim/Research Associate
Neil Ingham/Senior Staff Scientist
Morag Lewis/Research Fellow
Elisa Martelletti/Research Student
Lorenzo Preite/Research Assistant
Vicky Rook/Research Assistant

 Professor Karen Steel is Professor of Sensory Function at the Wolfson Centre for Age-Related Diseases, King's College London. From October 2003 to October 2012, Karen led the Genetics of Deafness team at the Wellcome Trust Sanger Institute.

Karen studies the genetics of deafness, using the mouse as a model to identify the genes involved and to understand the molecular, cellular and physiological mechanisms involved. She graduated with a degree in Genetics & Zoology from the University of Leeds in 1974 and a PhD in Genetics from the Department of Human Genetics and Biometry, University College London, in 1978.

Following a postdoctoral fellowship at the Medical Research Council (MRC) Institute of Hearing Research in Nottingham and a postdoctoral position at the Institut für Zoologie in München, Germany, she returned to the UK in 1983 to take on a research position at the MRC Institute of Hearing Research in Nottingham. She was made an honorary Professor of Genetics at the University of Nottingham in 1995.

Karen was the first to demonstrate that lack of melanocytes in the stria vascularis of mice with white spotting (pigmentation defects) caused abnormal strial function leading to deafness. In collaboration with Steve Brown, she succeeded in identifying the first mouse gene involved in deafness, Myo7a. Many of the mouse deafness genes she has subsequently worked on or discovered also underlie human deafness.

Karen has been involved in two large-scale mouse mutagenesis programmes. The first was a European collaboration of five groups that she led that used ENU, a powerful chemical mutagen, to create new single base changes randomly in the genome. Offspring were screened for deafness and balance defects and roughly 25 new causative mutations and their phenotypes were discovered and characterised.

At the Sanger Institute, Karen established the Mouse Genetics Programme, a large-scale effort to generate 200 new mouse mutants each year and screen them for key signs of disease. The mice are created using embryonic stem (ES) cells targeted by Bill Skarnes and Allan Bradley through the EUCOMM/KOMP programme. The data generated is available on the Sanger Institute website at http://www.sanger.ac.uk/mouseportal/ and the mice generated are available to the research community through public repositories including EMMA and KOMP. Over 1500 new mutant lines have been generated to date and all are screened for a range of phenotypic features. The team established a rapid electrophysiological screen for hearing impairment (Auditory Brainstem Responses) that has revealed 24 new genes underlying hearing impairment.

During her career, Karen Steel has served on many national and international bodies, including the Hearing Research editorial board; Mammalian Genome editorial board; Scientific Advisory Board of the Mouse Genome Database at the Jackson Laboratory; Organising Committee of the Molecular Biology of Hearing and Deafness Conference; International Mouse Genome Nomenclature Committee; Council of Association for Research in Otolaryngology; and she is currently the Past-President of the International Mammalian Genome Society. She has previously been an expert witness to House of Lords Select Committee on Ageing, scientific advisor to the charities Deafness Research UK and SENSE, deputy Chairman of the MRC Neurosciences Board, editor of the Hereditary Deafness Newsletter and member of the Wellcome Trust Neurosciences and Mental Health Funding Committee. Currently she chairs an ERC committee, serves on several Royal Society and Action on Hearing Loss panels, and is founding Chair of the Brain Prize Academy.

Karen was awarded the Kresge-Mirmelstein prize for excellence in hearing research (New Orleans) in 1998, was elected Fellow of the Academy of Medical Sciences (London) in 2004 and Fellow of the Royal Society in 2009. Karen was also recognised in 2012 by the Grete Lundbeck European Brain Research Foundation when she was jointly awarded the €1million Brain Prize with Professor Christine Petit from College de France. In 2014, she was elected to EMBO and received the Guyot Prize from the University of Groningen.

Selected publications in past 5 years:

Morozko EL, Nishio A, Ingham NJ, Chandra R, Fitzgerald T, Martelletti E, Borck G, Wilson E, Riordan GP, Wangemann P, Forge A, Steel KP, Liddle RA, Friedman TB, Belyantseva IA (2015) ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. Human Molecular Genetics, 24:609-24.

Chen J, Ingham N, Kelly J, Jadeja S, Goulding D, Pass J, Mahajan VB, Tsang SH, Nijnik A, Jackson IJ, White JK, Forge A, Jagger D, Steel KP (2014) Spinster homolog 2 (Spns2) deficiency causes early onset progressive hearing loss. PLoS Genetics 10:e1004688.

Liakath-Ali K, Vancollie V, Heath E, Smedley D, Estabel J, Sunter D, DiTommaso T, White J, Ramirez-Solis R, Smyth I, Steel KP, and Watt F (2014) Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature Communications 5:3540

Wolber LE, Girotto G, Buniello A, Vuckovic D, Pirastu N, Lorente-Canovas B, Rudan I, Hayward C, Polasek O, Ciullo M, Mangino M, Steves C, Spector TD, Gasparini P, Steel KP, Williams FMK (2014) GWAS meta-analysis reveals a new gene, SIK3, associated with hearing. Human Molecular Genetics 23:6407-18.

DiTommaso T, Jones L, Cottle DL, The WTSI Mouse Genetics Program, Gerdin AK, Vancollie VE, Watt FM, Ramirez-Solis R, Bradley A, Steel KP, Sundberg JP, White JK, Smyth I (2014) Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. PLoS Genetics 10:e1004705.

Girotto G, Vuckovic D, Buniello A, Lorente-Cánovas B, Lewis M, Gasparini P and Steel KP (2014) Expression and replication studies to identify new candidate genes involved in normal hearing function. PLoS One. 9:e85352.

Chen J, Johnson SL, Lewis MA, Hilton JM, Huma A, Marcotti W and Steel KP (2014) A reduction in Ptprq contributes to specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo. Eur J Neurosci. 39:744-56.

White JK, Karp NA, Gerdin AK, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley J, Melvin DG, Sunter D, Adams NC, The Sanger Institute Mouse Genetics Project, Logan DW, MacArthur D, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A and Steel KP (2013) Genome-Wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes. Cell 154:452-464.

Lorente-Cánovas B, Ingham N, Norgett EE, Golder ZJ, Karet Frankl FE and Steel KP (2013) Mice deficient in the H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear. Disease Models and Mechanisms 6:434-42.

Steffes G, Lorente-Cánovas B, Pearson S, Brooker RH, Spiden S, Kiernan AE, Guénet JL and Steel KP (2013) Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects. PLoS One 7:e51065.

Buniello A, Hardisty-Hughes RE, Smith RJ, Pass JC, Bober E and Steel KP (2013) Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness. PLoS One 8:e56274.

Hilton JM, Lewis MA, Grati M, Ingham N, Pearson S, Laskowski RA, Adams DJ and Steel KP (2011) Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice. Genome Biology 12:R90.

Kuhn S, Johnson SL, Furness DN, Chen J, Ingham N, Hilton J, Steffes G, Lewis M, Zampini V, Hackney C, Sergio M, Holley MC, Steel KP and Marcotti W (2011) miR-96 regulates the functional maturation of mammalian cochlear hair cells. Proc. Natl. Acad. Sci. 108:2355-2360.

Lewis M, Quint E, Rzadzinska A, Kent-Taylor A, Fuchs H, Hrabé de Angelis M, Langford C, Van Dongen S, Enright A, Redshaw N, Dalmay T and Steel KP (2009) An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice. Nature Genetics 41:614-618.

Mencía A, Modamio-Høybjør S, Redshaw N, Morín M, Mayo-Merino F, Olavarrieta L, Aguirre LA, del Castillo I, Steel KP, Dalmay T, Moreno F and Moreno-Pelayo MA (2009) Mutations in the seed region of the human miR-96 are responsible for non-syndromic progressive hearing loss. Nature Genetics 41:609-613.

 

 

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