biobanking and data sharing for the progress of collaboration on gsd international meeting glycogen...
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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
TreatmentTreatment
BBiobank iobank IIntegrating ntegrating TTissue&omics (issue&omics (BITBIT) Gaslini) GasliniBBiobank iobank IIntegrating ntegrating TTissue&omics (issue&omics (BITBIT) Gaslini) Gaslini
PatientPatient
DNA structure (CGH)Gene expression profile
miRNA profile
DNA structure (CGH)Gene expression profile
miRNA profile
ClassificationPathologyDiagnosis
ClassificationPathologyDiagnosis
Clinic•Prognostic factors• Therapy indicators
Clinic•Prognostic factors• Therapy indicators
BiobankBiobank
Tissue collection
“omics”“omics”
Arrays
Tissue Derivatives
Tissue Derivatives
Tissue fractionation
IntegrationIntegration
Bioinformatic
Clinical dataClinical data
Data: hundreds of thousand
Data: hundreds of thousand
DNA, RNA,Protein storage,
distribution
DNA, RNA,Protein storage,
distribution
Tissue storage
distribution
Tissue storage
distribution
DATABASEDATABASEDATABASEDATABASE
BITResearch:•Data mining•Biomarkers•Pathways
Research:•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
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”
Digital Biobank (DiBi) cenetralizes the databases of individual “BIT”
The centralization of the information is
indispensable to study and to treat rare
diseases
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
Classificationpathology
Classificationpathology
Clinical dataClinical data
DATABASEDATABASEDATABASEDATABASE
Several BIT can share the databases generating a
Digital Biobank
Several BIT can share the databases generating a
Digital Biobank
BITBIT
Digital BiobankDigital Biobank
DATABASEDATABASEDATABASEDATABASEDATABASE DATABASE DATABASE DATABASE
DATABASEDATABASEDATABASEDATABASE
DATABASEDATABASEDATABASEDATABASE
Digital BiobankA robust batabase for research and
clinic
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 BiobankExpert 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
Research
Data
BiologicalResource
Center
Samples Medical Data
ExpertCenter
ExpertCenter
BBMRI
ENCCA
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 upDigital 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
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