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Addressing the Health and Wealth of Scotland generationscotland

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

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Addressing the Health and Wealth of Scotland generationscotland

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  1. Addressing the Health and Wealth of Scotland www.generationscotland.org A vision for Scotland with a global view

  2. 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.

  3. 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

  4. Clinical Research Network Aberdeen Dundee Glasgow Edinburgh

  5. Founder Partners & Scientific Management Committee www.abdn.ac.uk/ www.dundee.ac.uk/ www.ed.ac.uk/ www.gla.ac.uk/ www.mrc.ac.uk/ www.show.scot.nhs.uk/ www.nesc.ac.uk/ Generation Scotland is supported by: SEHD Chief Scientists Office

  6. Governance Advisory Board FutureDirections Management Committee 21CGH & 3D NHS ClinicalGenetics ImplementationGroup LaboratoryIntegration Communications& PR PublicInvolvement Informatics

  7. Exemplar Projects • Mental Health: Schizophrenia • 1,000 cases & controls: Edinburgh (Blackwood & Muir) & Aberdeen (StClair) • Osteoarthritis & osteoporosis • Pharmacogenetics • Optimised prescription, based upon genetic profile • Avoidance of adverse drug reactions

  8. 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) t(1:11) minor psychiatric illness (ANX, ALC, MIND) unaffected

  9. DISC1 and PDE4 Are Interacting Genetic Factors in Schizophrenia that Regulate cAMP Signalling • Science, 310, 1187-1191 (2005) J. Kirsty Millar1, Benjamin S. Pickard1, Shaun Mackie1, Rachel James1, Sheila Christie1, Sebastienne R. Buchanan1, M. PatMalloy1, 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’

  10. The DISC1-PDE4B Pathway A means towards genetic stratification & biomarker discovery A target for rational drug development

  11. 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

  12. 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)

  13. Integration of Health Informatics & Genomics Recruitment of family based cases and controls Blood sample Personal data ISD OUTCOMES screening surveillance targeted treatment optimised treatment Health records Data storage & analysis Statistics & Bioinformatics Genotype DNA archive

  14. Clinical & Laboratory Studies@ WTCRF, Edinburgh • State-of-the art facilities Genetics Core

  15. Find altered gene sequence in people who are ill or at risk t c t a c t c t c t c t a a t c t c Use gene test to diagnose & choose best treatment Work out what the gene does ? Personalised Medicine Develop Drug

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