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UCL Great Ormond Street Institute of Child Health

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Dr Veronica Kinsler

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BIRTHMARK DISORDERS - DISCOVERING CAUSES, DESIGNING TREATMENTS

The Kinsler lab’s aim is to improve life for children born with severe birthmark disorders and other rare skin diseases, by optimising clinical management, discovering the genetic causes, and identifying or designing novel treatments for the birthmarks and their associated problems.  Birthmark disorders are usually the result of mosaicism, which arises from a post-zygotic mutation in the developing embryo or foetus, and the abnormalities are therefore frequently not only confined to the skin but affect other organs as well.  Many of the mosaic mutations are in known oncogenes, and many of these birthmark disorders therefore also carry a risk of cancer.  Our work therefore not only produces insights into rare birthmark disorders, but can be extrapolated to common malignancies in the general population.

 

Current Funding:  The Wellcome Trust, GOSHCC, Caring Matters Now, NIHR GOSH BRC, UCL Business

Our main areas of interest are:

1) Functional characterisation of the role of PPP2R3B in melanoma

2) Therapy for congenital melanocytic naevi

3) Livingstone Skin Research Centre