Biobanking and data sharing for the progress of collaboration on GSD

International meeting Glycogen Storage Diseases associationsMilan October 2nd 2010

Luigi Varesio

Pediatric BiobankPediatric Biobank different different

Limited number of specimensLimited number of specimens Unique legal considerationsUnique legal considerations Unique scientific questionsUnique scientific questions Network is mandatory to reach a Network is mandatory to reach a

meaningful number of samplesmeaningful number of samples

Treatment

BBiobank iobank IIntegrating ntegrating TTissue&omics (issue&omics (BITBIT) Gaslini) Gaslini

Patient

DNA structure (CGH)Gene expression profile

miRNA profile

ClassificationPathologyDiagnosis

Clinic•Prognostic factors• Therapy indicators

Biobank

Tissue collection

“omics”

Arrays

Tissue Derivatives

Tissue fractionation

Integration

Bioinformatic

Clinical data

Data: hundreds of thousand

DNA, RNA,Protein storage,

distribution

Tissue storage

distribution

DATABASEDATABASE

BITResearch:•Data mining•Biomarkers•Pathways

From tissue sharing to a Biobank Integrating From tissue sharing to a Biobank Integrating Tissue&omics (BIT) : Tissue&omics (BIT) :

an added value in research and clinican added value in research and clinic

BIT

BIT

BIT

BIT

BIT

BIT

DiBi

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

Classificationpathology

Clinical data

DATABASEDATABASE

Several BIT can share the databases generating a

Digital Biobank

BITBIT

Digital Biobank

DATABASEDATABASE DATABASE DATABASE

DATABASEDATABASE

DATABASEDATABASE

Digital BiobankA robust batabase for research and

clinic

Molecular characterization of every Molecular characterization of every patientspatients• Targeted therapeutic applicationsTargeted therapeutic applications

Personalized medicinePersonalized medicine

Pediatric BiobankPediatric Biobank potential potential

Expert Centers as part of the Pediatric Biobank

• Cost effectiveCost effective• Immediate, continuous Immediate, continuous

contact among clinicians, contact among clinicians, biologists biologists bioinformaticiansbioinformaticians

• A step closer towards A step closer towards molecular progiling of molecular progiling of every patient in given setevery patient in given set

• Center of excellece for Center of excellece for treatment and study of treatment and study of specifc pedriatric specifc pedriatric diseasesdiseases

BiologicalResource

Center

Samples

Medical Data

ResearchData

BiologicalResource

Center

Samples Medical Data

ExpertCenter

ExpertCenter

BBMRI

ENCCA

biobanks network

Laboratories Network

GSD consortium

Implementation of the infrastructure

Biobank: Data and specimens sharing

GSD

Rare diseasePedidatric

Sofia MosciAnnalisa BarlaAlessandro Verri

Alberto GaraventaClaudio Gambini

Paolo FardinFabiola BlengioMaria Luisa BelliMassimo AcquavivaAndrea CorneroValeria CorriasAnnalisa Pezzolo

Digital biobank: coming upDigital biobank: coming up

Validation of the resultsValidation of the results Connection to biobank structuresConnection to biobank structures

• BBMRI (Biobanking and Biomolecular Resources BBMRI (Biobanking and Biomolecular Resources Infrastructure)Infrastructure)

Platforms for “omic” analysisPlatforms for “omic” analysis Funding Funding

Pediatric GSD BiobankPediatric GSD Biobank short term goals short term goals

Establish a network of Establish a network of Interface the network with BBMRIInterface the network with BBMRI