PDF file: EURASNET Annual Report 2008

Participant 32 – Diana Barallea) Work performed during the periodWP2: SHARING RESOURCES, TECHNOLOGY AND RELIABLEPROTOCOLSFurther refinement of the minigene system for routine use in diagnosticlaboratories is in progress. As described in the WP12 report at deliverable214, the minigene system has been supplied to several researchers in otherresearch institutions. In addition I am writing an invited EMBOreportsViewpoint for publication in 2009.WP12: MIS-SPLICING AND DISEASEWe have studied several regulatory elements in genes of interest(NF-1, BRCA, and Nde). In particular with regards to, RNA-protein andRNA-RNA interactions. Two successful projects that have led topublications this year in the NF1 gene have included the identification of thefactor PTB as a negative regulator for pseudoexons and showing that there islow U1 snRNP dependence at the NF1 exon 29 donor splice site. Ongoingwork includes: Study of BRCA 1 gene exon 11 where purifying selectionacts in the BRCA1 conserved region spanning exon 9, exon 10 and exon 11preventing aberrant splicing and analysing the splicing regulatory systemsinvolved. Also, we are looking at the splicing evolution of the Nde geneknown to be involved in cortical growth and if dysfunctional will causemicrocephaly.• WP16: CONFERENCES AND MEETINGSPID32 has reported on the organization of a workshop in London (3 March2008) to discuss RNA Splicing and Diagnostics with the heads of moleculardiagnostic labs. in the UK– see meeting report.PID32 will organize a 2 nd workshop in Paris on 1 st October 2009 again withdiagnostic laboratories particularly in France but with open invitation toEurope, to come to a consensus agreement and develop guidelines for RNAand splicing analysis in clinical practice.• WP17: STAFF EXCHANGE AND TRAININGOur new PhD student (Claudia Tamaro) has had pre fellowship training atthe laboratory of Prof Baralle in Trieste, after which she moved to ourlaboratory in October 2008. We have collaborated with the ICGEB and theUniversity of Cambridge- Smith lab. on various projects, involving visits tothe labs. In partiuclar my post doc. M. Raponi learnt RNAi for PTB at theSmith lab. in the winter of 2008, and has had collaborative and teachingmeetings at Trieste. This included learning about UV crosslinking and pulldown analysis for the purposes of setting this up in our own lab. The Smithcollaboration resulted in a joint publication.• WP18: CAREER DEVELOPMENTMichela Raponi (post doc) has attended and presented at the RNA UKmeeting Jan 08 and the Montpellier practical workshop Feb. 08. She has alsopresented her work at the University of Southampton postgraduateconference this year. She has attended 2 professional courses at theUniversity: ‘How to write grants’ and a microscopy course.194