Professor Edel O’Toole, MB, PhD, FRCP

Profile

I am a clinical academic with an active research group working on diverse aspects of keratinocyte biology related to rare skin disease.

I received my medical degree from University College, Galway, Ireland and subsequently trained in Galway and Dublin in Medicine and Dermatology. In 1994, I 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. From 1998-2001, I completed my clinical training in Dermatology at the Royal Free and Barts and the London NHS Trusts. In July 2001, I became a Clinical Senior Lecturer/Honorary Consultant Dermatologist at QMUL/Barts and the London NHS Trust. My clinical interests are genetic skin disease (palmoplantar keratodermas and ichthyoses), paediatric dermatology and medical dermatology. I became Professor of Molecular Dermatology in 2008 and Centre Lead in 2015. I am a co-director of the Wellcome-funded HARP (Health Advances in Underrepresented Populations and Diseases) clinical doctoral training programme.

I was Chair of the British Society for Investigative Dermatology from 2009 to 2011. I was on the ESDR board from 2018 to 2022 and chaired the Diversity Taskforce. I am co-lead of the Skin Genomics England Clinical Interpretation Partnership.

I am Chair of the Medical Advisory Board of the Ichthyosis Support Group and am on the Steering Committee of Pachyonychia Project, a patient support group for patients with pachyonychia congenita.

Teaching

Research

Research Interests:

• Basement membrane regulation of keratinocyte biology
• Biology of the autosomal recessive ichthyoses and the skin barrier
• Genetics and clinical phenotyping of atopic eczema in the Bangladeshi population
• Eczema and pollution in East London
• Repurposing of drugs in rare diseases, including ichthyoses and palmoplantar keratodermas
• Human Paediatric Skin Atlas (HCA c Chan Zuckerberg Institute funding)
• New project on steatocystoma multiplex (disorder of the sebaceous gland) associated c pachyonychia congenita

Funders

BBSCRC, Unilever, Chan Zuckerberg Institute, Leo Foundation, Barts Charity, MRC, Wellcome, LifeArc, Medical Research Foundation, Palvella Therapeutics, Kamari Pharma.

I also collaborate with David Kelsell on genetic skin diseases, Judy Breuer (UCL) on varicella zoster virus and skin and  John Marshall (Barts Cancer Institute) on skin cancer invasion.

PhD Students (primary supervisor)

• Krishnu Baruah PhD FT (Non-Clinical)
• Soha Tawfik PhD FT (Non-Clinical)
• Simran Summan PhD FT (Non-Clinical)
• CZI fellow PhD FT (Clinical) currently advertised

PhD students (co-supervisor)

• Aaron Hughes, MRC CTF (with Ryan O’Shaughnessy)
• Piotr Parzymies (with Matthew Caley)
• Abubkr Abdelaal Ahmed (with Emanuel Rognoni)
• Diana Pereira (with Ines Sequeira)
• John Macken (with Emanuel Rognoni, Matthew Caley, Farida Fortune)

Postdoctoral Research Assistants

• Elena Giusto
• Inmaculada Barragan-Vazquez
• PDRA to be advertised for 2.5 years funded by Medical Research Foundation (2 years)

Bilingual Clinical Research Assistant

• To be appointed, Dec 2022

Clinical Fellows

• Dr Rebecca McCarthy
• Dr Anna Dunnigan NIHR ACF (co-supervised c David Kelsell)

External Collaborators

• John Marshall
• Neil Rajan, Newcastle University
• Muzz Haniffa, Newcastle University and Sanger Institute

Examples of research funding:

BBSCRC, Unilever, Chan Zuckerberg Institute, Leo Foundation, Barts Charity, MRC, Wellcome, LifeArc, Medical Research Foundation, Palvella Therapeutics, Kamari Pharma.

Publications

Laminin-5 inhibits human keratinocyte migration. E.A. O’Toole, M.P. Marinkovich, H. Furthmayr, D.T. Woodley.  Experimental Cell Research  1997;233:330-39.

Hypoxia increases keratinocyte motility in vitro. E.A. O’Toole, M.P. Marinkovich, C. Peavey, M. Amieva, H. Furthmayr, D.T. Woodley. Journal of Clinical Investigation 1997;100:2881-91.

α2β1 integrin mediates cell attachment to a non-RGD site between the second and third fibronectin type III repeats of the NC1 domain of type VII collagen.  M. Chen, E.A. O’Toole, D.T. Woodley. Experimental Cell Research 1999;249(2):231-9.

Thalidomide increases human keratinocyte migration and proliferation. E.A O'Toole*, M..R Nasca*, P. Palicharla, D.P. West, D.T. Woodley.  Journal of Investigative Dermatology 1999;113:720-4 (joint first authors*).

Development and characterization of a recombinant truncated type VII collagen "Minigene". Implication for gene therapy of dystrophic epidermolysis bullosa. M. Chen, E.A. O'Toole, M. Muellenhoff,  E. Medina, N. Kasahara, D.T. Woodley.  Journal of  Biological Chemistry 2000;275:24429-35.

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.  D.P. Kelsell, E.E. Norgett, H. Unsworth, M.T. The, T. Cullup, C.A. Mein, P.J. Dopping-Hepenstal, B.A. Dale, G. Tadini, P. Fleckman, K.G. Stephens, V.P. Sybert, S.B. Mallory, B. North, D.R. Witt, E. Sprecher, A.E.M. Taylor, A. Ilchyshyn, C.T. Kennedy, H. Goodyear, C. Moss, D. Paige, J.I. Harper, B.D. Young, I.M. Leigh, R.A. Eady, E.A. O’Toole.  American Journal of Human Genetics 2005;76(5):794-803

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.  D.C. Blaydon, Y. Ishii, E.A. O'Toole, H.C. Unsworth, M.T. Teh, F. Ruschendorf, C. Sinclair, V.K. Hopsu-Havu, N. Tidman, C. Moss, R. Watson, D. de Berker, M. Wajid, A.M. Christiano, D.P. Kelsell.  Nature Genetics 2006;38:1245-7. 

Overexpression of the Axl tyrosine kinase receptor in cutaneous SCC-derived cell lines and tumours.  J. Green, M. Ikram, J. Vyas, N. Patel, C.M. Proby, L. Ghali, I.M. Leigh, E.A. O'Toole, A. Storey.  British Journal of Cancer 2006;94:1446-51.

Hypoxia induces epidermal keratinocyte matrix metalloproteinase-9 secretion via the protein kinase C pathway.  E.A. O'Toole, R. van Koningsveld, M. Chen, D.T. Woodley.  Journal of Cellular Physiology 2008;214:47-55.

Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement membrane type VII collagen.   Martins V.L., Vyas J.J., Chen M., Purdie K.,  Mein C.A., South A.P., Storey A., McGrath J.A., O’Toole E.A.  Journal of Cell Science 2009;122:1788-99 .

Papadakis E.S., Cichoń M.A., Vyas J.J., Patel N., Ghali L., Cerio R., Storey A., O'Toole E.A. Axl promotes cutaneous squamous cell carcinoma survival through negative regulation of pro-apoptotic Bcl-2 family members. Journal of Investigative Dermatology 2011;131(2):509-17. 

View all Edel O’Toole's Research Publications at: http://www.researchpublications.qmul.ac.uk

Supervision

Primary

• Krishnu Baruah PhD FT (Non-Clinical)
• Soha Tawfik PhD FT (Non-Clinical)
• Simran Summan PhD FT (Non-Clinical)
• CZI fellow PhD FT (Clinical) currently advertised

Secondary

• Aaron Hughes, MRC CTF (with Ryan O’Shaughnessy)
• Piotr Parzymies (with Matthew Caley)
• Abubkr Abdelaal Ahmed (with Emanuel Rognoni)

Previous Supervision

• Diana Pereira (with Ines Sequeira)
• John Macken (with Emanuel Rognoni, Matthew Caley, Farida Fortune)