Welcome to the 47th Annual ESDR Meeting 2017
Clinical Saturday Lecture
Date: Saturday 30 September 2017
Room: Europa Hall
Lecture Title: Therapy-relevant Research for Rare Genetic Skin Disorders
Edel O'Toole received her medical degree from University College, Galway, Ireland and subsequently trained in Galway and Dublin in Medicine and Dermatology. In 1994, she moved to Northwestern University, Chicago to work with Professor David Woodley on keratinocyte migration and extracellular matrix funded by a Dermatology Foundation and subsequently a Howard Hughes Medical Institute Physician-Scientist Fellowship. In 1998, she relocated to the UK to complete her clinical training in Dermatology. In July 2001, she became a Clinical Senior Lecturer/Honorary Consultant Dermatologist at QMUL/Barts and the London NHS Trust. She became Professor of Molecular Dermatology in 2008 and Centre Lead of the Centre for Cell Biology and Cutaneous Research in the Blizard Institute in 2015. Her clinical interests are genetic skin disease (palmoplantar keratodermas and ichthyoses), paediatric dermatology and medical dermatology. Her research interests are mainly based around rare genetic skin disease including biology of the basement membrane and mechanisms involved in the ichthyoses.
Badowski C, Sim AYL, Verma C, Szeverényi I, Natesavelalar C, Terron-Kwiatkowski A, Harper J, O'Toole EA, Lane EB. Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma. J Invest Dermatol. 2017 May 16. pii: S0022-202X(17)31522-1. doi: 10.1016/j.jid.2017.03.038. [Epub ahead of print] PubMed PMID: 28526297.
Krupiczojc MA, O'Toole EA. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa. Br J Dermatol. 2016;174(1):15.
Martins VL, Caley MP, Moore K, Szentpetery Z, Marsh ST, Murrell DF, Kim MH, Avari M, McGrath JA, Cerio R, Kivisaari A, Kähäri VM, Hodivala-Dilke K, Brennan CH, Chen M, Marshall JF, O'Toole EA. Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC. J Natl Cancer Inst. 2016 Jan;108(1). pii: djv293.
Hill DS, Robinson ND, Caley MP, Chen M, O'Toole EA, Armstrong JL, Przyborski S, Lovat PE. A Novel Fully Humanized 3D Skin Equivalent to Model Early Melanoma Invasion. Mol Cancer Ther. 2015 Nov;14(11):2665-73.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet. 2015 Mar 5;96(3):440-7.
Jones M, Dry IR, Frampton D, Singh M, Kanda RK, Yee MB, Kellam P, Hollinshead M, Kinchington PR, O'Toole EA, Breuer J. RNA-seq analysis of host and viral gene expression highlights interaction between varicella zoster virus and keratinocyte differentiation. PLoS Pathog. 2014 ;10(1):e1003896.
Cichoń MA, Szentpetery Z, Caley MP, Papadakis ES, Mackenzie IC, Brennan CH, O'Toole EA. The receptor tyrosine kinase Axl regulates cell-cell adhesion and stemness in cutaneous squamous cell carcinoma. Oncogene. 2014 ;33(32):4185-92.
Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 ;93(2):330-5.
Martins VL, Vyas JJ, Chen M, Purdie K, Mein CA, South AP, Storey A, McGrath JA, O'Toole EA. Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci. 2009 Jun 1;122(Pt 11):1788-99.
Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Rüschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet. 2006;38(11):1245-
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 ;76(5):794-803.