PDF file: EURASNET Annual Report 2008

Participant 27 – Davide Gabellinia) Work performed during the period• WP12We performed splicing-sensitive microarrays to identify pre-mRNAs aberrantlyspliced as a result of FRG1 over-expression in different muscle types of the FaciscapulohumeralMuscular Distrophy (FSHD) animal model. To develop a possible gene therapy approach for FSHD,several small hairpin RNAs (shRNAs) specific for FRG1 have been cloned in recombinant adenoassociatedviruses (rAAVs), have been validated in the cell culture model of FSHD for the specificknockdown of FRG1 and are currently tested in vivo upon systemic delivery in the FSHD animalmodel.b) Major cost items with justificationParticipant 27 Type of expenditure Budget total costspersonnel 0consumables 37.107,19subcontracting 12.686,91training 0equipment 0travel 2.506,37= total direct costs 52.300,47+ overhead 7.922,71= total eligible costs 60.223,18Major cost items• ResearchConsumablesChemicalsEnzymesLaboratory supplies4.479,39 Euro12.253,45 Euro20.374,35 EuroTravel2.506,37 Euro have been used for the participation to the following meetings: Myology 2008 inMarseille 26-30 May 2008, ESOF2008 in Barcelona 18-22 July 2008, Frontiers in Molecular Biologyin Milano 15-17 May 2008.Our project deals with understanding the molecular mechanism at the basis of facioscapulohumeralmuscular dystrophy (FSHD), the most important muscular dystrophy, in order to develop possibletherapeutic approaches.We have generated a mouse model of FSHD and we are using it to understand the pathways affected inFSHD and to test possible therapeutic approaches.Mice are a useful model for the characterization of complex cellular processes. One advantage relies onthe ability to dissect biochemical reactions in vivo by the use of insertion of exogenous DNA(transgenic). This type of manipulation is particularly successful in mice and can provide an essential186