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HRA: Big Data 08102017
Transcript of HRA: Big Data 08102017
The Collaborative Research Ecosystem
How to "
compete to share
on behalf of
Genomic Data Portal
CBIO development consortium
The Empowered Biospecimen
Acute lymphoblastic leukemia (ALL)
Acute myeloid leukemia (AML)
Pediatric kidney tumors
Innovation Through Collaboration:
How the Pediatric Data Driven Landscape is changing the way we do "Big Data" research
The Emergence of a Data Commons Ecosystem
CAVATICA looks to "
empower the rare
" through collaboration
Platforms for shared, accelerated Discovery
Foundations and The Patient as Partner
Pediatric Brain Tumors: a "real-time" experiment at "faster"
The CAVATICA Commons
Empowered via consent
Patients do want to share data . . .
Parents of patients with cancer want to share data for research even more!
(Who's data is it anyway?)
15,000, 000 page hits over 3 years
2,000 page hits over 3 years
An individual has a right under the HIPAA Privacy Rule to access, upon request, PHI about the individual in a designated record set maintained by or for a clinical laboratory that is a covered entity.
Birth Defect Increased Cancer risk
Cleft palate 2.69
1600 WGS/RNAseq + Clinical data
No data embargo
Real time access
Empowering the "rare" requires new models and understanding of data
Histone mutations identified
ACVR1 mutation: Secondary mutations missed in original data
Diffuse Intrinsic Pontine Glioma
The Emergent Proximity of Data to Impact
Media survival < 9 Month
300-350 new cases of DIPG diagnosed each year in the United States
Fibrodysplasia ossificans progressiva (FOP)
Germ-line mutations in ACVR1 cause FOP! (2006)
Very same mutations found in DIPG
But could have also just intersected with adult cancers!
380 paired WGS
263 Tumor RNA-Seq data
24 types of brain tumors
60X for tumor WGS and 30X for its matched normal WGS.
A new model for Data Empowerment and accelerated discovery
New Data (Commons) Models
in the context of Clinical Trials
Pediatric Brain Tumors
(An experiment in new models)
AMOUNT of Data is not the commodity
Arrived at CHOP in 2007
Began collecting in 2008
A new NIH Common Fund initiative: $126 million over 10 years.
Commons integrated platform for collaborative discovery and shared analysis/integration
Data Coordinating Center
Data Visualization Portal
Outreach and Administration
Angela Waanders M.D
Phillip Storm M.D.
Adult Cancer Data
(What Happens to Foundation-Sponsored Data?)