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Projects. Life and Earth Sciences

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

Lead Researcher: 
Carmen Guerra González

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

Synopsis:
Carmen GuerraDifferent 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.

SCIENTIFIC PRODUCTION  

3 papers at national conferences
2 papers at international conferences  
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Carmen Guerra González 
Born in Madrid (1967). After graduating in Pharmacy (1990) from the Complutense University of Madrid (UCM), she obtained her Ph.D. (1994) for her studies of the regulation of expression of genes involved in thermoregulation in foetal brown adipocytes made at the Department of Biochemistry and Molecular Biology, Faculty of Pharmacy (UCM). Later she completed a postdoctoral sojourn at the Jackson Laboratory (Bar Harbor, Maine, USA), a renowned centre for mouse genetics and the development of animal models, where she conducted several projects related to the study of obesity through the development of models with genetically modified mice. In September 1998, she joined the group led by Dr. Barbacid at the newly established National Cancer Research Centre as a researcher to study the involvement of Ras genes in tumour development and developmental disorders.
In 2007 she achieved a position as a senior scientist with the National Science Research Council (CSIC).


Her major scientific contributions include the development of genetically modified mouse models to study the role of the K Ras oncogene in lung and pancreas tumour development. These models have provided valuable information about the cellular origin and genetic alterations at different stages of the tumours, the role of risk factors and the usefulness of different treatment strategies. Note should also be taken of the important contributions of her research in the field of developmental genetic alterations caused by Ras gene mutations, specifically Costello and Noonan syndromes.


*All intellectual property rights belong to the author. Reproduction of all or part of the work without permission from the author is prohibited.

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