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What next?
“Adopting one additional healthy behaviour
To delay onset or prevent disease by….
The need for large studies:
CHD versus SBP in the Prospective Studies
Collaboration (PSC)
Usual SBP (mmHg)
120 140 160 180
1
2
4
8
16
32
64
128
256
Age at risk:
80-89
70-79
60-69
50-59
40-49
500,000 people
Usual SBP (mmHg)
120 140 160 180
1
2
4
8
16
32
64
128
256
Age at risk:
80-89
70-79
60-69
50-59
40-49
50,000 people
Usual SBP (mmHg)
120 140 160 180
1
2
4
8
16
32
64
128
256
Age at risk:
80-89
70-79
60-69
50-59
40-49
5000 people
UK Biobank is a major national health resource
designed to improve the prevention, diagnosis
and treatment of a wide range of illnesses
Why is Biobank special?
• Very large size (n=503,000)
–1000s of disease cases for adequately powered case-
control and case-cohort studies
• Extensive and detailed exposure measures
• Comprehensive follow-up
linkage to a wide range of health-related records
questionnaires
detailed phenotyping of outcomes
• Open access resource: see www.ukbiobank.ac.uk
Gene-environment interaction
High throughput, low-cost methods
Automated sample archive
• Blood
whole blood
serum
plasma
red cells
buffy coat
• Urine
• Saliva
Total > 15 million aliquots
Enhancements
• Web-based questionnaires for additional exposures and
outcomes (cognition, mental health, occupation..)
• Repeat of baseline assessment every few years in a
subsample of 20-25,000
• Wrist-worn accelerometers mailed to 100,000 participants to
measure physical activity
• Standard assay panel on samples from all participants
• Multimodal imaging in 100,000 - brain, cardiac and body fat
MRI; bone & joint DEXA; 3D carotid ultrasound
• Genotyping of all participants (820,000 SNPs)
• Continuous monitoring of cardiac rhythm
Enhancements
Neurodegenerative conditions
Condition Self-report
at baseline
(n)
Incident outcomes* (n)
by the end of:
2012 2017 2022 2027
Stroke
Alzheimer’s
Parkinson’s
7,000
100
900
2,000
800
1,000
5,000
3,000
3,000
9,000
9,000
6,000
20,000
30,000
14,000
*Estimates based on UK age- and sex-specific rates, adjusted for potential healthy cohort
effects and losses to follow-up, rounded to nearest 1000 (or nearest 100 if < 1000)
Age
Preclinical
Prodromal
Dementia
60 75 9045
Cognitive
Health
The Challenge
Identify early
determinants
Identify early
treatments to
delay onset
Identify treatments to:
1. slow progression
2. relieve symptoms
Prevention Delay Slow / Relieve
The Step-change
• Dementia dedicated ‘big data’ platform
• Triangulation between multiple independent datasets
• Closer synergy between scientific specialties
• Closer partnership between academics and industry
• More targeted analytic questions
• Reducing transaction costs………
Methods
Development
Dementia
Resources
Readiness
Cohort
Amyloid
Cohort
Genetics
Discovery
Cohort
Omics
Discovery
Cohort
Biostatistics
Dementia
Outcomes
Cognitive
Assessment
Trials
Recruitment
ELSI
Brain & iPSC
Donation
Deep & Freq.
Phenotyping
Experimental
Medicine
Synaptic
Function
Immunity
Vascular
Determinants
Metabolic
Determinants
Early Phase
Trials
Research
Networks
Imaging
Stem cell
(iPSC)
Informatics
DPUK
Analytics
Portal Informatics Platform
22 Cohorts
Cohort Integration
The Infrastructure
The Cohorts
Mature
Population
Cohorts
Familial
Disease
Cohorts
Prodromal
Population
Cohorts
The Wider Context

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