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Involvement of Ras oncogenes in the development of Costello and Noonan syndromes

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

Rare diseases

Senior Researcher : Carmen Guerra González

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Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid

Abstract

Different genetic backgrounds will be characterised to discover the genes modulating the Costello Syndrome, responsible for the typical alterations of these patients, with which new preventive, palliative or therapeutic strategies can be tested. Through genetic strategies we will also be studying whether any of the alterations in this model are corrected in whole or in part by inhibiting Ras effectors or the farnesyl transferase enzyme. A new mouse model will be developed and characterised to help understand the different consequences resulting from the expression of activating mutations of the K Ras gene (V14I), described in patients with Noonan syndrome. This new model will allow the study of the developmental abnormalities resulting from the germline expression of this mutation and test new therapeutic and palliative measures.

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