Research projects
Start of main content
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
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.
-
Activities related
-
Projects related
-
News related
-
Publications related
-
27
Nov
2019
International Symposium Undiagnosed and rare diseases in children and adolescents: Translation to clinic and society Barcelona, Wednesday and Thursday, November 27 and 28, 2019 9:30 hours
-
30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
-
7
Mar
2022
International Symposium New Insights in Cancer Discovery 2022 Madrid, Monday and Tuesday, 7 and 8 March 2022, 10:00 hours
- Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders 2008 Senior Researcher : Marcos Malumbres Martínez Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid
- The development of molecular scalpels for the repair of genes involved in single gene diseases 2011 Senior Researcher : Guillermo Montoya Blanco Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid
- Phenotyping of animal models of rare diseases with visual disability 2020 Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
End of main content