Transcript Stage 1 - The Cambridge BioResource

The NIHR Cambridge BioResource
A means of correlating disease susceptibility genotypes
with phenotypes
Bringing together local people and leading research
What is CBR?
• Volunteer Resource- Panel of 10,000 individuals aged 16
yrs and over living in and around Cambridgeshire who
have donated DNA samples for genotyping.
• Established on a not-for-profit basis to assist local
researchers with volunteer recruitment to a wide range of
medical studies.
• It provides a sampling frame from which people can be
selected on the basis of their genotype to be invited for
observational studies or clinical trials looking to correlate
genotype with phenotype.
CBR- 2 Staged Process
• Stage 1
– Establishing the panel-sourcing the participants
– Sample and data collection
– Organised as a collaborative activity (NIHR BRC,
University, NHSBT, MRC)
• Stage 2
– Using the BioResource-recall of participants
– Organised by individual groups in conjunction with
CBR Management and Operations teams
– Individual ethics applications MUST be submitted for
each study
Why do we need CBR?
• To aid rapid identification of large numbers of subjects
meeting inclusion and exclusion criteria who can be
approached for recruitment into a wide range of
experimental medicine studies.
• To provide efficient access to homogenous subgroups of
volunteers recalled by genotype and/or phenotype for
proof of principle studies.
• To allow studies and trials to be targeted at
subpopulations that are characterised by genotype
and/or phenotype-improving our understanding of
disease mechanisms, helping the identification of
potential drug targets
Applying to the CBR:
www.cambridgebioresource.org
Responsibilities
•
CBR Management Committee responsible for:
– Establishment of BioResource and recruitment of participants
into BioResource
– Management of BioResource
•
CBR SAB responsible for:
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•
Access to the BioResource
Review of stage 2 study design- (allele frequencies and risk
ratios (lower, neutral and higher risk genotypes studied and
risk ratios less than 1.5, hence no labelling of selected
subjects)) and required volunteer commitment in the study
Individual researchers responsible for:
– Ethical approval application for their own stage 2 study
– All costs associated with individual study
Stage 2 studies
Current Studies include:
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Cardiosome Project: Genes and mechanisms in cardiovascular disease (Dr Willem
Ouwehand)
Common copy number variants associated with obesity (Dr Sadaf Farooqi)
Developmental origins of risk of type 2 diabetes: Tolerance of fasting and IGF-I
levels (Prof David Dunger)
GANDALF study: Genetic variation and altered leucocyte function in health and
disease (Prof Ken Smith)
Genes and mechanisms in type 1 diabetes (Prof John Todd)
Genetic and cellular mechanisms protecting from tuberculosis (Dr Sergey
Nejentsev)
Investigation of the functional role of the IL23R gene variant in psoriasis
pathogenesis (Prof Frank Nestle)
Other Studies starting soon:
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An investigation of the functional consequences of the R77H polymorphism of human
CD11b: a strong genetic susceptibility variant in systemic lupus erythematosus (Prof
Tim Vyse)
Approaches to early detection and intervention in lung disease (Prof Sir Bruce
Ponder)
What’s next for CBR?
• Recruitment of patients from clinics (thyroid, diabetes, Multiple
Sclerosis, pain, asthma, pneumonia, lung cancer…)
• Recruitment of patients from GP surgeries-CBR Mobile Recruitment
Unit (with thanks to Milly Apthorp Charitable Trust)
• Collaboration with industry (GSK, Pfizer…)
• Development of a National NIHR BioResource