Design & scope of ongoing & Future Collaborations: The ......Design & scope of ongoing & Future...
Transcript of Design & scope of ongoing & Future Collaborations: The ......Design & scope of ongoing & Future...
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Design & scope of ongoing & Future Collaborations:
The Framingham Heart Study
Vasan S. Ramachandran, MD, Caroline Fox, MD, Susan Cheng, MD, on behalf of
The Framingham Heart Study
Boston University School of Medicine
No Conflicts to Disclose
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Omni study 2, N~400
2002
Framingham Heart Study Longitudinal Community-Based Family Study
2015
Third Gen cohort N~4000,1576 spouse pairs, 3514 biological offspring
2002
Offspring cohort N = 5124
1972 2015
Original cohort N = 5209 men and women (ages 28-62)1644 spouse pairs, 596 extended families
1948 2015
Omni study 1, N = 506
1995 2015
32nd
9th
4th
2015
New Offspring Spouses, N=100
Year/Exam
2nd
2nd
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Framingham Heart Study
• Longitudinal
- Lifetime measures & Lifestyle measures
- Lifetime risk
- Trajectories, cumulative exposure, temporal trends
• Deeply Phenotyped
- FHS is ~ The Human Phenome Project
• Extensive Genetic/Genomic Resources
- Unique tissue resources
• Family-based study
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FHS: Dense Phenotypic Characterization
Dementia Stroke Depression
Eye
HearingCardiac
Pulmonary
RenalVascular
Osteoporosis
Osteoarthritis
Cancer
Diabetes
Proteome
Alcohol
Aging
Endocrine
MetabolomeTranscriptome Methylome
CMS
Funded grants
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Genomic Resources
Marshfield genome scan (~400 markers/every10cM)
GWAS: 100K, 550K imputed to 1000K, 5MOmni
Exome Chip Illumina v1.0
Whole Exome Sequences
Whole Genome Sequences
• MediSeq
• Candidate genes/SNPs
• iPS cell lines soon
Access locally if working at BU
Or through dbGaP
http://www.ncbi.nlm.nih.gov/gap
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SABRe CVD Initiative:Resources
• High-throughput technology to measure
- Project 1: Discovery proteomics, metabolomics & lipomics
- Project 2: Targeted immunoassays
- Project 3: Gene expression profiling
- Project 4: microRNA profiling
Gene
ExpressionMethylome Metabolome miRNA
Protein
Biomarkers*
5,622 2,726 2,650 5,718 7,315
*170 immunoassay proteins.
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Framingham Heart Study Biorepository
• Core mission: Preservation, tracking/distribution and appropriate utilization of biological specimens collected from FHS participants
• Compilation and QC of resulting measures for submission to central databases and for use by investigators (dbGaP and BioLINCC)
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FHS: roads less travelled!
• Environmental epidemiology
• Social epidemiology
• Infectious disease epidemiology
• Epidemiology Methods development
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FHS JHS
New
Cohort F
New
Cohort J
Industry
AHA
NHLBI
BU UM
NIA, NIDDK, Other NIH Agencies
AHA CVGPS
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Positioning FHS for the future
• Beyond etiological research: translation, implementation, dissemination
• Greater data access
• Extend cohorts across lifecourse & for multiple outcomes
• Novel technologies
• Integrate big data
• Knowledge integration into practice & policy
• Training the workforce for this millennium
• Optimize use of resources for best return on investments
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FHS changes in a Brave New World
• Culture
- Collaborative
- Transparent
• Science
- Futuristic
- Transdisciplinary
• Processes
- Streamlined
- User-friendly
• Organizational
- National resource
- Self-sustaining in resource constrained environment
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Collaborations: Challenges & Opportunities
• Standardization of traits
- ‘analysis-ready; distributed datasets
• Joint leadership
- Framework and collaborations (lessons from genetics)
• Funds to jump-start projects
• Protecting ESI across studies
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Collaborations: Some Questions?
• Foster collaboration while maintaining uniqueness?
• Foster innovation while working towards harmonization?
• Synergies with precision medicine initiative?
• How to bridge gap between genetic & non-genetic collaborations?