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Functional genomics and pre mRNA processing alterations Identification of possible disease causing mutations by systematic genomic sequencing of candidate genes Clear possible functional Polymorphisms, atypical and “orphan” mutations alteration Mis-sense mutation Non-sense mutation Large deletion Consensus splice sites mutation Promoter defects Splicing defects Functional splicing assa polyA tail promoter FibronectinGlobin hybrid minigene polyA tail promoter SXN13 hybrid minigene polyA tail Sal I promoter TCGACGTTNNNNNNNNNNNNNGAATG GCANNNNNNNNNNNNNNCTTACCTAG BamH1 Can you make the drawings as linear constructs? TCGACGTTNNNNNNNNNNNNNGAATG GCANNNNNNNNNNNNNNCTTACCTAG Identification of candidate genes by clinical diagnosis Clear possible functional alteration Polymorphisms, atypical and “orphan” mutations Bioinformatic analysis Identification of possible disease causing mutations by systematic genomic sequencing of candidate genes Clinical evaluation Analysis of pre mRNA processing alterations Mis-sense mutation Non-sense mutation Large deletion Consensus splice sites mutation Promoter defects Identification of mutations as possible Splicing defects RNA expression analysis Verification that mutations act on splicing Identification of trans-acting factors Determination of disease causing mechanism Development of rational therapy approaches, evidence based genetic conseling Experimental validation Functional splicing assay (reporter genes)
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