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Addressing the Health and Wealth of Scotland www.generationscotland.org. A vision for Scotland with a global view. Generation Scotland aims to. Prospective, intensively phenotyped family based cohort study (n = 50,000), recruited through primary care and linked through NHS health records - PowerPoint PPT Presentation
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Addressing the Health and Wealth of Scotland
www.generationscotland.org
A vision for Scotland with a global view
Generation Scotland aims to
Prospective, intensively phenotyped family based
cohort study (n = 50,000), recruited through primary
care and linked through NHS health records
Identify genetic contributions to current and
projected common causes of ill health and related
quantitative traits,
Genomics, bioinformatics and systems biology to
public health
Diagnosis, prognosis & prevention of ill health and
Translational research, rational drug discovery &
clinical trial.
Our Competitive Advantage
Scottish people & culture
Unhealthy, Supportive & Stable Population
Large scale family based studies possible
NHS Scotland
Disease Registers
‘Cradle to Grave’ Health Records
Academic excellence
Medical Genetic & Information technology
Ethical, Legal, Social Sciences
Aberdeen
Dundee
Glasgow Edinburgh
Clinical Research Network
www.nesc.ac.uk/
www.abdn.ac.uk/ www.dundee.ac.uk/
www.show.scot.nhs.uk/www.mrc.ac.uk/
www.gla.ac.uk/www.ed.ac.uk/
Generation Scotland is supported by:
Founder Partners & Scientific Management Committee
SEHD Chief Scientists Office
Governance
Advisory Board
Management Committee
21CGH & 3DFuture
Directions
Implementation
Group
Informatics
PublicInvolvement
NHS ClinicalGenetics
LaboratoryIntegration
Communications
& PR
Exemplar Projects
Mental Health: Schizophrenia1,000 cases & controls: Edinburgh
(Blackwood & Muir) & Aberdeen (StClair)Osteoarthritis & osteoporosisPharmacogenetics
Optimised prescription, based upon genetic profile
Avoidance of adverse drug reactions
Major psychosis co-segregating with a balanced t(1;11) translocation
St Clair et al Lancet (1990), Blackwood et al AmJHumGenet (2001)
major psychiatric illness (SCZ, BPAD, RMD)minor psychiatric illness (ANX, ALC, MIND)unaffected
t(1:11)
DISC1 and PDE4 Are Interacting Genetic Factors in Schizophrenia that Regulate cAMP SignallingScience, 310, 1187-1191 (2005)
J. Kirsty Millar1, Benjamin S. Pickard1, Shaun Mackie1, Rachel James1, Sheila Christie1,
Sebastienne R. Buchanan1, M. Pat Malloy1, Jennifer E. Chubb1, Elaine Huston2, George S.
Baillie2, Elaine V. Hill2, Miles D. Houslay2, Nicholas J. Brandon3, Jean-Christophe Rain4, L.
Miguel Camargo3, Paul J. Whiting3, Douglas H.R. Blackwood1,5, Walter J. Muir1,5, David J.
Porteous1.
Science Magazine
‘Scientific Breakthroughs of the Year, 2005’
The DISC1-PDE4B Pathway
A means towards genetic stratification
& biomarker discovery
A target for rational drug development
Scottish Family Health Study
50,000 family-based collection targeting sibships of 3+
Phenotyping focus Cardiovascular disease Bone & joint disease Mental health Pharmacogenetics
Questionaire, Clinical Exam & Follow up “high fidelity phenotyping” Quantitative Trait Analysis Systematic, electronic record linkage and follow up
Clinic Measures
Physical measures: Height, weight, waist-hip ratio Blood Pressure x 2, resting pulse Spirometry and FEV1 Ankle brachial pressure index (ABPI)
Cognitive Function & Mental health Eysenck Personality Questionnaire Wechsler Memory Test (short- and long-term) Digit Symbol test Verbal Fluency Mill Hill Vocabulary Scale General Health Questionnaire-28 SCID Brief screening interview for major depression
Blood: DNA, Lipid profile (cholesterol), urate, glucose Urine: Spot test; 24-hour collection (if possible)
Blood sample
DNA archive
Personal data
Health records
GenotypeData storage & analysis
Statistics & Bioinformatics
OUTCOMESscreening
surveillance targeted
treatmentoptimised treatment
Recruitment of family based cases and controls
Integration of Health Informatics & Genomics
ISD
Clinical & Laboratory Studies@ WTCRF, Edinburgh
State-of-the art facilities
Genetics Core
t c t a c t c t c
t c t a a t c t c
Find altered gene sequence
in people who are ill or at risk
Develop Drug
Use gene test to diagnose & choose best treatment Work out
what the
gene does Personalised
Medicine
?