The focus of 'EPISTEM' is to generate new knowledge and translate it into applications that enhance human health. To this end both fundamental and applied research will be involved. 'EPISTEM' integrates multidisciplinary and coordinated efforts to understand the molecular basis of factors involved in epidermal stem cell generation, maintenance and differentiation and skin disease. Moreover, the core molecule that will be studied in this IP is p63 (and related pathways), a molecule genetically proven to be involved in the development of rare skin diseases such as EEC syndrome, Hay-Wells (AEC) syndrome, Limb-mammary syndrome, ADULT syndrome, Rapp-Hodgkin syndrome and non-syndromic split hand-split foot malformation. Collectively, the prevalence of ectodermal dysplasia syndromes (EDS) is estimated at 7 cases in 10,000 births. Currently there is no cure for these patients. By creating the 'EPISTEM' consortium we want to address from different angles (genetics, gene profiling, molecular and cellular biology, structural biology, drug design, bioinformatics), the molecular pathways involved in epidermal dysplasia syndromes making use of different technologies (mutation analysis, micro-array, ChiP, transgenes, proteomics, in vitro skin cultures, crystallography, etc). Our consortium brings together leading European clinicians, geneticists, molecular and cellular biologists, structural biologists, a drug designer and bioinformatics specialist in the field of p63 (and related molecules) research. Therefore, this research fits in the centre of the specific topic "Exploring the potential of stem cells and/or primary cells for the understanding of monogenic rare diseases and the development of new drugs for their treatments".
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