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Projects. Life and Earth Sciences

Towards a comprehensive model of the modified molecular network in Fanconi anaemia

Lead Researcher:
Miguel Ángel Genestar Pujana 

Research Centre: 
Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.

Synopsis: 
A number of new components of this pathway have been identified by mass screening of physical interactions between proteins. The characterisation of these components in different cell models has revealed their role in repairing DNA damage by homologous recombination. At genetic level, common variants in this gene are associated with or modify the risk of breast cancer. Taken together, these results have been submitted for publication. Additionally, through international collaborations, the role of these new components is being genetically evaluated in patients diagnosed with Fanconi anaemia but without a known complementation group.


SCIENTIFIC PRODUCTION  

4 articles published in Journals
2 papers at international conferences 
________________________________________

Miguel Ángel Genestar Pujana  
After a postdoctoral sojourn at the laboratory of Dr. Marc Vidal at the Dana-Farber Cancer Institute (Boston, USA), he currently occupies the position of Ramon y Cajal I3 researcher at the Catalan Institute of Oncology (IDIBELL). The research group he leads combines bioinformatics analyses and empirical studies aimed at defining the genetic bases and molecular mechanisms involved in the risk of developing cancer. Among his published scientific work, a highlight is the identification of a new component of the BRCA1 path associated with the risk of suffering breast cancer.

 *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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