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FANCODRUG

Reactivation of the Fanconi anemia-BRCA pathway in cells carrying patient-derived missense mutations: finding a drug to cure Fanconi anemia

Total Cost €

EC-Contrib. €

Partnership

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FANCODRUG project word cloud

Explore the words cloud of the FANCODRUG project. It provides you a very rough idea of what is the project "FANCODRUG" about.

subset option interacting first cure mislocalization nuclear agents mutants cytoplasm genes life brca2 chemotherapy disease retain mutations 85 inactivating activation d1 conduct diseases fanca predisposition mechanism action difficult reactivate 19 drug instead unbiased 29 malformations correction fanconi heterogeneous independently patients prevalent valuable medicine drugs sites genetic cancer hypersensitive accounting containing coss treatment repair mislocalize anemia combination therapies dna cells brca marrow yield ubiquitination subcellular fancd2 throughput localization pathogenicity brca1 damage linking missense screen personalized molecular summary d2 mechanisms fa thereby expectancy bone suggesting nucleus least

Project "FANCODRUG" data sheet

The following table provides information about the project.

Coordinator	UNIVERSIDAD AUTONOMA DE BARCELONA Organization address address: CALLE CAMPUS UNIVERSITARIO SN CERDANYOLA V city: CERDANYOLA DEL VALLES postcode: 8290 website: http://www.uab.es contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.
Coordinator Country	Spain [ES]
Total cost	170˙121 €
EC max contribution	170˙121 € (100%)
Programme	1. H2020-EU.1.3.2. (Nurturing excellence by means of cross-border and cross-sector mobility)
Code Call	H2020-MSCA-IF-2015
Funding Scheme	MSCA-IF-EF-ST
Starting year	2017
Duration (year-month-day)	from 2017-03-07 to 2019-03-06

Partnership

Take a look of project's partnership.

#	participants	country	role	EC contrib. [€]
1	UNIVERSIDAD AUTONOMA DE BARCELONA UNIVERSIDAD AUTONOMA DE BARCELONA Organization address address: CALLE CAMPUS UNIVERSITARIO SN CERDANYOLA V city: CERDANYOLA DEL VALLES postcode: 8290 website: http://www.uab.es contact info title: n.a. name: n.a. surname: n.a. function: n.a. email: n.a. telephone: n.a. fax: n.a.	ES (CERDANYOLA DEL VALLES)	coordinator	170˙121.00

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Project objective

Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure, malformations and cancer predisposition. Currently, there is no cure for FA and life expectancy is 29 years. In addition, FA cells are hypersensitive to DNA coss-linking agents used in chemotherapy making cancer treatment difficult. The genetic cause of FA is heterogeneous, involving at least 19 different FA genes (FANCA, B, C, D1/BRCA2, D2, E, F, G, I, J, L, M, N, O, P, Q, R, S/BRCA1 and T) all interacting in a common DNA repair pathway (the FA/BRCA pathway). FANCD2 ubiquitination and localization at sites of DNA damage is a key step in the activation of the FA pathway and it is used to assess its functionality. Importantly, mutations in FANCA are the most prevalent, accounting for 60-85% of FA cases. FANCA missense mutants mislocalize FANCA to the cytoplasm instead of the nucleus, thereby inactivating the FA pathway. However, FANCA mutants may retain its functionality, suggesting that correction of the subcellular mislocalization of FANCA missense mutants may be an effective way to reactivate the FA/BRCA pathway in these patients. In this application, we propose to conduct a study to develop a system to promote nuclear localization of FANCA missense mutants and evaluate its impact on the activation of the FA/BRCA pathway. This study will yield valuable information about the molecular mechanisms that determine FANCA subcellular localization and pathogenicity of the mutations. In a second part of the project, we will use an unbiased high-throughput approach to screen for drugs that can reactivate the FA/BRCA pathway in cells containing FANCA missense mutations, independently of their mechanism of action. In summary, using a combination of targeted and unbiased approaches, we aim at finding the first drug with the potential to cure FA in a large subset of patients. Personalized medicine-based therapies may be the only option to cure FA and other highly heterogeneous genetic diseases.

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The information about "FANCODRUG" are provided by the European Opendata Portal: CORDIS opendata.