Investigation of the genetics and the phenomenon of spontaneous involution of giant Congenital Melanocytic Naevi. (360G-Wellcome-088371_Z_09_Z)
2 inter-related research projects are proposed: o Investigation of the genetics of Congenital Melanocytic Naevi (CMNs) o Investigation of spontaneous lightening of CMNs Giant CMNs are extensive developmental abnormalities of the neural crest about which little is known. 20% of patients have abnormalities of the CNS as well as the skin. Identification of the genes involved in the development of CMNs would contribute to knowledge of neural crest cell development. We propose to use skin biopsy material of affected and unaffected skin, as well as blood samples, to try to identify candidate gene regions involved in the aetiology of giant CMNs. Quantification and investigation of the phenomenon of spontaneous involution seen in certain cases could contribute to knowledge of the behaviour of normal melanocytes and may allow exploitation of the mechanism for the treatment of future patients. We propose to quantify colour change over a two year period and compare it with the his tological findings of the skin biopsies and the blood markers, as well as with any genetic findings. Key goals are o identification of involved loci in either germline or somatic DNA o quantification of spontaneous lightening and the classification of this phenomenon into either immunological or apoptotic.
£228,823 09 Jul 2009