Research objectives and content
Our purpose is to study the function of a novel gene that has been identified very recently in the host institution. Mutations in this gene are responsible for a human disease: anhidrotic ectodermal dysplasia and, thus, the gene product is expected to be involved in skin morphogenesis. The project includes the intracellular and tissue localization of the gene product, the study of its role in the developing skin and the regulation of its expression. Screening for homologous genes will be performed, too. The project is basic for the understanding of the pathogenic mechanisms underlying the disease which could be extremely helpful in the search for therapies-for the patients. It will also promote the knowledge of the epithelial differentiation, thus providing a model system for morphogenesis.
Training content (objective, benefit and expected impact)
The applicant will have the opportunity of extending her knowledge in functional aspects of the Human Genetics field. Till now, as you can see in her CV, she has been working in identifying genes and mutations responsible for-diseases. So, this future project in a world-known laboratory will be very appropriate to complete her training. Links with industry / industrial relevance (22)