Honorary Faculty - Professor Karen Steel

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 and the mice generated are available to the research community through public repositories including EMMA and KOMP. Over 700 new mutant lines have been generated to date.

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 also 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.

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.

Selected Publications

  • miR-96 regulates the progression of differentiation in mammalian cochlear inner and outer hair cells.

    Kuhn S, Johnson SL, Furness DN, Chen J, Ingham N, Hilton JM, Steffes G, Lewis MA, Zampini V, Hackney CM, Masetto S, Holley MC, Steel KP and Marcotti W

    Proceedings of the National Academy of Sciences of the United States of America 2011;108;6;2355-60

  • Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.

    Hilton JM, Lewis MA, Grati M, Ingham N, Pearson S, Laskowski RA, Adams DJ and Steel KP

    Genome biology 2011;12;9;R90

  • Emx2 and early hair cell development in the mouse inner ear.

    Holley M, Rhodes C, Kneebone A, Herde MK, Fleming M and Steel KP

    Developmental biology 2010;340;2;547-56

  • An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.

    Lewis MA, Quint E, Glazier AM, Fuchs H, De Angelis MH, Langford C, van Dongen S, Abreu-Goodger C, Piipari M, Redshaw N, Dalmay T, Moreno-Pelayo MA, Enright AJ and Steel KP

    Nature genetics 2009;41;5;614-8

  • Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

    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

    Nature genetics 2009;41;5;609-13

  • The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.

    Spiden SL, Bortolozzi M, Di Leva F, de Angelis MH, Fuchs H, Lim D, Ortolano S, Ingham NJ, Brini M, Carafoli E, Mammano F and Steel KP

    PLoS genetics 2008;4;10;e1000238

  • Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP and Williams DS

    Human molecular genetics 2008;17;15;2405-15

  • Mosaic complementation demonstrates a regulatory role for myosin VIIa in actin dynamics of stereocilia.

    Prosser HM, Rzadzinska AK, Steel KP and Bradley A

    Molecular and cellular biology 2008;28;5;1702-12

  • Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.

    Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL and Steel KP

    Human molecular genetics 2005;14;22;3463-76

  • Sox2 is required for sensory organ development in the mammalian inner ear.

    Kiernan AE, Pelling AL, Leung KK, Tang AS, Bell DM, Tease C, Lovell-Badge R, Steel KP and Cheah KS

    Nature 2005;434;7036;1031-5

* quick link - http://q.sanger.ac.uk/443q7pdx