David Kelsell

David Kelsell

Professor of Human Molecular Genetics

My work is based largely on the molecular mechanisms underlying inherited monogenic skin disease: both syndromic and isolated. Examples of current studies:
1) Desmosomal defects in cardiocutaneous disease
2) Disease gene discovery
3) Identification of an oesophageal cancer predisposition gene IRHOM2
4) Proteases and inhibitors in epithelial defence and adhesion eg. ADAM17 and CSTA
5) Genetic and molecular studies of ABCA12, the Harlequin ichthyosis gene


After graduating from Sheffield University, I joined the Imperial Cancer Research Fund as a Scientific Officer where I completed a PhD on the “Genetics of familial breast cancer”. My PhD involved genetic studies to identify the two breast cancer genes, BRCA1 and BRCA2 and their importance in familial and sporadic breast cancer. This study resulted in a number of manuscripts including first author papers in the Lancet and Human Molecular Genetics. In addition, I was author on a number of breast cancer consortium papers including the landmark paper describing the cloning of the BRCA2 gene in Nature. In addition to my studies in breast cancer genetics, I formed a longstanding collaboration with Professor Irene Leigh at the Royal London Hospital, performing genetic studies on familial palmoplantar keratodermas, particularly the localization of a predisposition gene to both skin disease and oesophageal cancer. After a short but successful Wellcome Trust postdoctoral in which time we identified Connexin 26 as the main genetic cause of hearing loss, I joined SmithKline Beecham (now GlaxoSmithkline) where I used a bioinformatic approach to identify new molecular targets. From there I returned to academia and the Centre for Cutaneous Research as a Senior Lecturer to build an independent research team working on human skin genetics and keratinocyte biology. I was made Professor of Human Molecular Genetics in September 2003. I am Deputy Director of Research at the Blizard Institute and board member of the European Society of Dermatological Research.


My work primarily focuses on the molecular mechanisms underlying primarily inherited monogenic disease leading to a number of key scientific findings: These includinge the first association of GJB2 mutations with recessive hearing loss, (making the link between desmosome mutations with skin disease and cardiomyopathy), identification of the Harlequin Ichthyosis gene, RSPO4 as a key molecule in nail development and functional studies of connexins in epithelial biology. New studies include the identification of the first human ADAM17 mutations (underlie inflammatory bowel and skin disease) plus the identification of the genetic cause of a familial form of susceptibility to oesophageal cancer called “Tylosis” – members have a very high risk of developing squamous cell cancer of the oesophagus (up to 95% by age 65). These research areas have produced high quality publications (including Nature, New England Journal of Medicine, Nature Genetics, Human Molecular Genetics, Lancet, Journal of Cell Science and the American Journal of Human Genetics) with novel insights into disease and their underlying cellular mechanisms.

Group Members

Postdoctoral Researchers:

Dr Anissa Chikh (Cancer Research UK programme grant)

Dr Manuela Pigors (DFG fellowship)

Dr Keat-Eng Ng  (British Heart Foundation programme grant)

Dr Anna Posafalvi  (British Heart Foundation programme grant)

Dr Matthew Brooke  (MRC project grant)

Dr Paola Arcidiacono  (Marie Curie Fellowship)

Dr Helene Louis dit Picard (Cancer Research UK programme grant)

Research Assistant:

Paul Delaney (British Heart Foundation programme grant)


Current PhD students (as primary supervisor):

Dr Thiviyani Maruthappu (MRC Clinical  Fellow)

Benjamin Fell (EU Nanodrug)

Philip Bland (SHHiRT)

Catherine Webb (Cancer Research UK studentship)


Recent papers include:

Matthew A. Brooke, Sarah L. Etheridge, Nihal Kaplan, Charlotte Simpson, Edel O’Toole, Akemi Ishida-Yamamoto, Olivier Marches, Spiro Getsios, David P. Kelsell (2014). iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function. Human Molecular Genetics 1;23(15):4064-76.

Diana C. Blaydon, Lisbet Lind, Vincent Plagnol, Kenneth J. Linton , Francis, J.D. Smith, Neil J. Wilson, W.H. Irwin McLean, Colin S. Munro , Andrew P. South, Irene M. Leigh, Edel A. O'Toole, Anita Lundstrom and David P. Kelsell (2013). Aquaporin-5 (AQP5), a water channel protein, is mutated in autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma. American Journal of Human Genetics, 93: 330-335.

Rita M Cabral, Daniel Tattersall, Vishal Patel, Graham D McPhail, Elizabeth Hatzimasoura, Dominic J Abrams, Andrew P South, David P Kelsell (2012). The DSPII splice variant is critical for desmosome-mediated HaCaT keratinocyte adhesion. Journal of Cell Science 125:2853-61.

Diana C. Blaydon, Sarah L. Etheridge, Janet M. Risk, Hans-Christian Hennies, Laura Gay, Vincent Plagnol, Fiona McRonald, Howard P. Stevens, Nigel K. Spurr, D. Timothy Bishop, Anthony Ellis, Janusz Jankowski, John K. Field, Irene M.  Leigh, Andrew P. South, David P. Kelsell (2012). RHBDF2 mutations are associated with a familial esophageal cancer syndrome (Tylosis). American Journal of Human Genetics.  10;90(2):340-6.

Diana C. Blaydon, Paolo Biancheri, Wei-Li Di, Vincent Plagnol, Rita M. Cabral, Matthew A. Brooke, David A. van Heel, Franz Ruschendorf, Mark Toynbee, Amanda Walne, Edel A. O’Toole, Joanne E. Martin, Keith Lindley, Tom Vulliamy, Dominic J. Abrams, Thomas T. MacDonald, John I. Harper, David P. Kelsell (2011). Neonatal-onset inflammatory skin and bowel disease associated with a recessive loss-of- function mutation in ADAM17. New England Journal of Medicine. 365(16):1502-8.

View all David Kelsell's Research Publications at: http://www.researchpublications.qmul.ac.uk



Further information

I am actively involved in public engagement of science and have appeared in radio and TV programmes. I am on the editorial board of a number of journals including Associate Editor for Molecular Cancer, Associate Editor for BMC Cancer, Section Editor (Molecular Genetics and Pathology) for Cell & Tissue Research and Associate Editor for the Journal of Investigative Dermatology.


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Centre for Cell Biology and Cutaneous Research
Blizard Institute
Barts and The London School of Medicine and Dentistry
Blizard Building
4 Newark Street
E1 2AT

020 7882 7167
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