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Biobanking and data sharing for the progress of collaboration on GSD. International meeting Glycogen Storage Diseases associations Milan October 2 nd 2010. Luigi Varesio. BIOBANKS. Sample collection and dissemination of the results. Pediatric Biobank different.
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Biobanking and data sharing for the progress of collaboration on GSD International meeting Glycogen Storage Diseases associations Milan October 2nd 2010 Luigi Varesio
BIOBANKS Sample collection and dissemination of the results
Pediatric Biobank different • Limited number of specimens • Unique legal considerations • Unique scientific questions • Network is mandatory to reach a meaningful number of samples
Clinical data Tissue collection Biobank Tissue storage distribution Tissue fractionation Tissue Derivatives DNA, RNA, Protein storage, distribution Arrays Data: hundreds of thousand “omics” Bioinformatic Integration DATABASE Biobank Integrating Tissue&omics (BIT) Gaslini Patient Treatment Classification Pathology Diagnosis From tissue sharing to a Biobank Integrating Tissue&omics (BIT) : an added value in research and clinic DNA structure (CGH) Gene expression profile miRNA profile BIT • Research: • Data mining • Biomarkers • Pathways • Clinic • Prognostic factors • Therapy indicators
Digital Biobank (DiBi) cenetralizes the databases of individual “BIT” The centralization of the information is indispensable to study and to treat rare diseases
DATABASE DATABASE DATABASE DATABASE DATABASE Several BIT can share the databases generating a Digital Biobank Clinical data Digital Biobank Classification pathology knowledge database DNA structure (CGH) Gene expression profile miRNA profile Digital Biobank BIT Digital Biobank A robust batabase for research and clinic
Pediatric Biobank potential • Molecular characterization of every patients • Targeted therapeutic applications • Personalized medicine
BBMRI Samples Research Data Medical Data E N C C A Pediatric Biobank Medical Data Samples BIT Gaslini Expert Centers as part of the Pediatric Biobank Biological Resource Center • Cost effective • Immediate, continuous contact among clinicians, biologists bioinformaticians • A step closer towards molecular progiling of every patient in given set • Center of excellece for treatment and study of specifc pedriatric diseases Expert Center Expert Center Biological Resource Center
Alberto Garaventa Claudio Gambini Paolo Fardin Fabiola Blengio Maria Luisa Belli Massimo Acquaviva Andrea Cornero Valeria Corrias Annalisa Pezzolo Sofia Mosci Annalisa Barla Alessandro Verri
Digital biobank: coming up knowledge database • Validation of the results • Connection to biobank structures • BBMRI (Biobanking and Biomolecular Resources Infrastructure) • Platforms for “omic” analysis • Funding
Pediatric GSD Biobank short term goals Establish a network of Interface the network with BBMRI