Biobanking and data sharing for the progress of collaboration on GSD International meeting Glycogen Storage Diseases associations Milan October 2 nd 2010 Luigi Varesio

Pediatric Biobank  different Limited number of specimens Limited number of specimens Unique legal considerations Unique legal considerations Unique scientific questions Unique scientific questions Network is mandatory to reach a meaningful number of samples Network is mandatory to reach a meaningful number of samples

Treatment B iobank I ntegrating T issue&omics ( BIT ) Gaslini Patient DNA structure (CGH) Gene expression profile miRNA profile DNA structure (CGH) Gene expression profile miRNA profile Classification Pathology Diagnosis Classification Pathology Diagnosis Clinic Prognostic factors Therapy indicators Clinic Prognostic factors Therapy indicators Biobank Tissue collection “omics” Arrays Tissue Derivatives Tissue Derivatives Tissue fractionation Integration Bioinformatic Clinical data Data: hundreds of thousand DNA, RNA, Protein storage, distribution DNA, RNA, Protein storage, distribution Tissue storage distribution Tissue storage distribution DATABASEDATABASE BIT Research: Data mining Biomarkers Pathways Research: Data mining Biomarkers Pathways From tissue sharing to a Biobank Integrating Tissue&omics (BIT) : an added value in research and clinic

DiBi BIT Digital Biobank (DiBi) cenetralizes the databases of individual “BIT” The centralization of the information is indispensable to study and to treat rare diseases

DNA structure (CGH) Gene expression profile miRNA profile DNA structure (CGH) Gene expression profile miRNA profile Classification pathology Classification pathology Clinical data DATABASEDATABASE Several BIT can share the databases generating a Digital Biobank Several BIT can share the databases generating a Digital Biobank BIT DATABASEDATABASE DATABASEDATABASE DATABASEDATABASE DATABASEDATABASE A robust batabase for research and clinic Digital Biobank A robust batabase for research and clinic

Molecular characterization of every patients Molecular characterization of every patients Targeted therapeutic applicationsTargeted therapeutic applications Personalized medicine Personalized medicine Pediatric Biobank  potential

Expert Centers as part of the Pediatric Biobank Cost effectiveCost effective Immediate, continuous contact among clinicians, biologists bioinformaticiansImmediate, continuous contact among clinicians, biologists bioinformaticians A step closer towards molecular progiling of every patient in given setA step closer towards molecular progiling of every patient in given set Center of excellece for treatment and study of specifc pedriatric diseasesCenter of excellece for treatment and study of specifc pedriatric diseases Biological Resource Center Samples Medical Data Research Data Biological Resource Center Samples Medical Data Expert Center Expert Center BBMRI ENCCAENCCA ENCCAENCCA

biobanks network GSD Rare disease Pedidatric

Sofia Mosci Annalisa Barla Alessandro Verri Alberto Garaventa Claudio Gambini Paolo Fardin Fabiola Blengio Maria Luisa Belli Massimo Acquaviva Andrea Cornero Valeria Corrias Annalisa Pezzolo

Digital biobank: coming up Validation of the results Validation of the results Connection to biobank structures Connection to biobank structures BBMRI (Biobanking and Biomolecular Resources Infrastructure)BBMRI (Biobanking and Biomolecular Resources Infrastructure) Platforms for “omic” analysis Platforms for “omic” analysis Funding Funding Validation of the results Validation of the results Connection to biobank structures Connection to biobank structures BBMRI (Biobanking and Biomolecular Resources Infrastructure)BBMRI (Biobanking and Biomolecular Resources Infrastructure) Platforms for “omic” analysis Platforms for “omic” analysis Funding Funding

Pediatric GSD Biobank  short term goals Establish a network of Establish a network of Interface the network with BBMRI Interface the network with BBMRI