CCBS : Centre For Clinical Brain Sciences

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Professor Douglas Blackwood




Postal Address

Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Morningside Park, Edinburgh EH10 5HF

Job Title

Professor of Psychiatric Genetics and Honorary Consultant Psychiatrist



Research overview

With W.Muir, D Porteous, B Pickard and others in the Psychiatric Genetics group we study genetic risk factors contributing to schizophrenia, bipolar disorder and major depressive disorder. 1) Molecular cytogenetic analyses (MP Malloy) has led to the cloning of several candidate genes identified at chromosomal breakpoint regions, notably the genes DISC1, PDE4B, GRIK4 and NPAS3 (e.g. Millar, Pickard et al (2005) Science 310: 1187-1191). 2)Candidate gene and genome wide association analysis (GWAS) using large case-control cohorts of patients with schizophrenia, bipolar disorder and recurrent major depression in the Scottish population.3) Bipolar and schizophrenia linkage analysis in large families from Scotland and Pakistan 4) examining specific groups of patients with major psychiatric disorder and co-morbid conditions including learning disability and unexplained swelling 5)member of Scientific committee of Generation Scotland involved in psychiatric phenotypes and collection of a population based sample of families for genetic studies. Funding – Research grants from Wellcome Trust, London; The Chief Scientist Office of the Scottish Government; TMRCI Glasgow. Schering-Plough (Organon).

Research direction

Clinical and molecular genetics of schizophrenia and affective disorders – i) clinical and molecular analyses of case-control cohorts and familial psychoses. External collaborations:1) Broad Institute (MIT/Harvard) and MDD2000 network (P Sullivan, N Carolina) to perform Genome Wide Association Studies in schizophrenia, bipolar disorder and major depression; 2) Cold Spring Harbor Laboratories to resequence candidate genes in schizophrenia. 3)The Wellcome Trust Sanger centre Cambridge (Prof Seth Grant) for Genes to Cognition project to identify schizophrenia candidate genes related to glutamate neurotransmission . 4) King Edward VII Medical College , Lahore for linkage studies with large families from Pakistan 5)collaboration with Prof E simpson, UBC, Vancouver in studies of the candidate gene NR2E1. Clinical and molecular genetics of learning disability (LD) and co-morbid learning disability/psychosis–clinical studies and positional identification of susceptibility genes by chromosome re-arrangment mapping. Cellular neurobiology of candidate genes for schizophrenia and bipolar disorder studied in transfected primary neuronal, neuro/glio-blastoma cultures and lymphoblastoid cell lines. Delineation of signalling and trafficking cascades by mRNA and antibody studies. Neuroanatomy from murine and human systems. (Dr B Pickard, PhD students – Ms H Knight, Ms S Li).

Recent Publications
  • W Hennah, P Thomson, A McQuillin, N Bass, A Loukola, A Anjorin, D Blackwood, D Curtis, IJ Deary, SE Harris, ET Isometsa, J Lawrence, J Lonnqvist, W Muir, A Palotie, T Partonen, T Paunio, E Pylkko, M Robinson, P Soronen, K Suominen, J Suvisaari, S Thirumalai, D St Clair, H Gurling, L Peltonen and D Porteous (2008) DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder Molecular Psychiatry 1-8
  • BS Pickard, A Christoforou, PA Thomson, A Fawkes, KL Evans, SW Morris, DJ Porteous, DH Blackwood and WJ Muir (2008). Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder. Molecular Psychiatry In Press
  • Wilkie MJV, Smith G, Day RK, Matthews K, Smith D, Blackwood D, Reid IC, Wolf CR. Polymorphisms in the SLC6A4 and HTR2A genes influence treatment outcome following antidepressant therapy. The Pharmacogenomics Journal, (2008) In Press
  • Kumar RA, Leach S, Maclean A, Bonaguro R, McGhee KA, Aguirre-Hernandez R, Abrahams, BS, Coccarro E, Hodgins S, Turecki G, Condon A, Muir WJ, Brooks-Wilson A, Blackwood DHR, Simpson EM (2008) Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia and aggression through resequencing. American Journal of Medical Genetics Neuropsychiatric Genetics B Neuropsychiatric Genetics, Epub Jan 18th
  • Anderson CA, Maclean A, Dunnigan MG, Pelosi AJ, Murray V, McKee I, Burt DW, Morrice DR, Muir WJ, Visscher PH, Blackwood DHR (2008) A genome-wide linkage study in families with major depression and co-morbid unexplained swelling. American Journal of Medical Genetics B Neuropsychiatric Genetics, Epub Oct 22nd 2007
  • Pickard B, Porteous D, Blackwood D, Muir, W. (2007) Rare genes of major effect in neuropsychiatric diseases. In Neurogenetics of Psychiatric Disorders: Medical Psychiatry Series Vol 36 Eds.
  • A Sawa and MG McInnes. Chapter 3: pp55-80 Taylor & Francis/Informa Healthcare. 232pp Gurling HMD,, Critchley H, Datta SR, McQuillin A, Blaveri E, Thirumalai S, Pimm J, Krasucki R, Kalsi G, Quested D, Lawrence J, Bass N, Choudhury K, Puri V, O’Daly O, Curtis D, Blackwood D, Muir W, Malhotra AK, Buchanan RW, Good CD, Frackowiak RSJ, Dolan RJ (2007) Gene-brain structure relationships: arbitrary assumptions of heterogeneity generate unfalsifiable claims – in reply. Archives of General Psychiatry, 64: 1098-1099
  • Millar JK, Mackie S, Clapcote SJ, Murdoch H, Pickard B, Christie S, Muir WJ, Blackwood DH, Roder C, Houslay MD, Porteous DJ (2007) Disrupted in schizophrenia 1 and phosphodiesterase 4B: towards an understanding of psychiatric illness. Journal of Physiology 584: 401-405
  • Christoforou A, Le Hellard S, Thomson PA, Morris SW, Tenesa A, Pickard BS, Wray NR, Muir WJ, Blackwood DH, Porteous DJ, Evans KL. (2007) Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia. Molecular Psychiatry, 12: 1011-1025
  • Massat I, Lerer B, Souery D, Blackwood D, Muir W, Kaneva R, Noethen MM, Oruc L, Papadamitriou GN, Dikeos D, Serretti A, Bellivier F, Golmard JL, Milanova V, Del-Favero J, Van Broeckhoven C, Mendlewicz J (2007) HTR2C (cys23ser) polymorphism influences early onset in bipolar patients in a large European multicenter association study. Molecular Psychiatry 12: 797-798
  • Pickard BS, Thomson PA, Christoforou A, Evans KL, Morris S, Porteous DJ, Blackwood DHR, Muir WJ (2007) A haplotype of the PDE4B gene confers sex-specific protection against schizophrenia. Psychiatric Genetics, 17: 129-133
  • Muir WJ, Pickard BS, Blackwood DHR (2007) Chromosomal abnormalities and psychosis – authors reply. British Journal of Psychiatry, 190: 270-271
  • Le Hellard S, Lee AJ, Underwood S, Thomson PA, Morris SW, Torrance HS, Anderson SM, Adams RA, Navarro P, Christoforou A, Houlihan LM, Detera-Wadleigh S, Owen MJ, Asherson P, Muir WJ, Blackwood DHR, Wray NR, Porteous DJ, Evans KL (2007) Haplotype analysis and a novel allele sharing method refines a chromosome 4p locus linked to bipolar affective disorder. Biological Psychiatry, 61: 797-805
  • Thomson PA, Christoforou A, Morris SW, Addie E, Pickard BS, Porteous DJ, Muir WJ, Blackwood DHR, Evans KL (2007) Association of neuregulin 1 with schizophrenia and bipolar disorder in a second Scottish population. Molecular Psychiatry, 12: 94-104
  • Blackwood DHR, Pickard BS, Thomson PA, Evans KL, Porteous DJ, Muir, W.J. (2007) Are Some Genetic Risk Factors Common to Schizophrenia, Bipolar Disorder and Depression? Evidence from DISC1, GRIK4 and NRG1. Neurotoxicity Research, 11: 73-83
  • Boeing L, Murray V, Pelosi A, McCabe R, Blackwood D, Wrate R (2007). Adolescent-onset Psychosis: Prevalence, Needs and service provision. British Journal of Psychiatry 190; 18-26.
  • Wilkie MJV, Smith D, Reid IC, Day RK, Matthews K, Wolf CR, Blackwood D, Smith G. (2007). A splice site polymorphism in the G-protein subunit influences antidepressant efficacy in unipolar and early onset depression. Pharmacogenetics and Genomics 17: 207-215
  • Tracey Millar, Robert Walker, Juan-Carlos Arango, James W Ironside, David J Harrison, Donald MacIntyre Douglas Blackwood, Colin Smith, Jeanne E Bell (2007). Tissue and Organ Donation for Research in Forensic Pathology: The MRC Sudden Death Brain and Tissue Bank. Journal of Pathology, 213:369-375.
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