Prof David Porteous

A major focus of his work is the application of knowledge emerging from the Human Genome Project to the identification of risk factors, disease processes and new treatments for common disorders prevalent in the Scottish population.

Prof David Porteous Chair of Human Molecular Genetics & Medicine
Medical Genetics Section
University of Edinburgh
Molecular Medicine Centre
Western General Hospital
Crewe Road South
Edinburgh, EH4 2XU
Work: +44 (0)131 651 1040
University staff profile

Personal profile

  • 1999 September: appointed to Chair of Human Molecular Genetics and Medicine, University of Edinburgh
  • 1993 August: Head, Molecular Genetics Section, Medical Research Council (MRC) Human Genetics Unit, Edinburgh
  • 1986 May: Scientific, non-clinical career appointment to the Medical Research Council, Grade I, MRC Human Genetics Unit, Edinburgh
  • 1984-1986: MRC postdoctoral scientist, Molecular Genetics Section (Section Head Dr ND Hastie), MRC Human Genetics Unit, Edinburgh

Professor Porteous has published over 160 peer reviewed papers. He is a Fellow of the Royal Society of Edinburgh, the Academy of Medical Sciences and the Royal College of Physicians of Edinburgh.

He provides expert advice on genetics to:

  • the European Union
  • the Medical Research Council
  • the Wellcome Trust
  • the Department of Health
  • the UK Government

He has been involved in the work of a range of Advisory Committees including:

  • the House of Commons Select Committee on Science & Technology Report on ‘Human Genetics: the science and its consequences’
  • the Protocol Development Committee for the UK Biobank
  • the Council of Scientists for the Human Frontiers Science Program
  • the British Medical Association Genetics Steering Group

Professor Porteous received the Chancellor’s Award for Research from the HRH Duke of Edinburgh in 2004.


Professor Porteous was appointed Professor of Human Molecular Genetics & Medicine, University of Edinburgh, in September 1999.

Professor Porteous is also Head of the Medical Genetics Section, Chairman of the Molecular Medicine Centre, University of Edinburgh and Director of the Genetics Core at the Wellcome Trust Clinical Research Facility Western General Hospital Campus.

An Edinburgh first degree and PhD graduate in Genetics, Professor Porteous spent three years as a post-doctoral researcher in Oxford, before returning to Edinburgh to take up an (Medical Research Council) MRC Recombinant DNA Training Fellowship with Professor Ed Southern.

In 1983 he moved to the MRC Human Genetics Unit where he was closely involved in transforming the Unit into one of the leading centres in human molecular genetics.

A major focus of his work is the application of knowledge emerging from the Human Genome Project to the identification of risk factors, disease processes and new treatments for common disorders prevalent in the Scottish population.

Generation Scotland

This has evolved into a major collaborative initiative between the Scottish Medical Schools, the NHS in Scotland and allied research institutes called Generation Scotland funded by the Scottish Funding Council (£1.97million) and the Chief Scientists Office (£4.4million).

Generation Scotland was formally launched on 2nd February, 2006 and was the subject of an Edinburgh Lecture on that day given jointly by Professor Porteous and Professor Andrew Morris, Dundee.

Generation Scotland website

Cystic fibrosis

His work on gene therapy for cystic fibrosis includes developing the first transgenic model of the disease to show a lung defect that parallels the human disease, the first UK clinical trial of non-viral gene therapy for cystic fibrosis and the first clinical trial in Scotland, all supported by the Medical Research Council and the Cystic Fibrosis Trust.

In 2000, his group joined with Imperial College London and Oxford University to form the UK Cystic Fibrosis Gene Therapy Consortium, backed to the tune of £15million over seven years by the CF Trust to develop and apply the next generation of gene therapy.

Professor Porteous' own laboratory focuses on both gene therapy for the inherited lung disorder of cystic fibrosis and the genetics of psychiatric illness.

Prof Porteous' Medical Genetics laboratory

Psychiatric genetics

His other major area of research interest is in psychiatric genetics. To date, his group has identified six genes of major effect in determining the risk of developing schizophrenia or bipolar affective disorder.

Of particular note is the identification of the DISC1 gene as a risk factor in schizophrenia, which is now recognised as one of the best validated findings in the field.

The landmark paper by Millar et al, Science, 2005 was ranked fifth in the annual list of Scientific Breakthroughs of the Year by Science Magazine.

This work is supported by MRC Programme Grant funding, other charities and industry (Organon Laboratories Ltd and Merck Sharpe and Dohme).


  • Medical Research Council (MRC)
  • Cystic Fibrosis Trust
  • Scottish Hospital Endowments Research Trust (SHERT)
  • Wellcome Trust
  • Merck Sharpe & Dohme
  • Arthritis Foundation
  • Scottish Higher Education Funding Council (SHEFC)
  • Research into Ageing
  • Chief Scientist Office (CSO)
  • Engineering and Physical Sciences Research Council (EPSRC)

Team Members

  • Dr Chris Boyd
  • Dr Steve Clapcote
  • Dr Kathy Evans
  • Dr Shona Kerr
  • Dr Kirsty Millar
  • Dr Robin Morton
  • Dr Ben Pickard
  • Dr Pippa Thomson


  • University of Dundee
  • University of Aberdeen
  • University of Glasgow
  • Imperial College London
  • Kings College
  • University of Oxford


Millar JK, Pickard BS, Mackie S, James R, Christie S, Buchanan SR, Malloy MP, Chubb JE, Huston E, Baillie G, Thomson PA, Hill EV, Brandon NJ, Rain J-C, Camargo C, Whiting PJ, Houslay MD, Blackwood DHR, Muir WJ, and Porteous DJ (2005) DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signalling. Science 310: 1189-1191.

James R, Adams RR, Christie S, Buchanan SR, Porteous DJ, and Millar JK (2004) Disrupted in Schizophrenia 1 (DISC1) is a multicompartmentalized protein that predominantly localizes to mitochondria. Molecular and Cellular Neuroscience 26(1):112-22.

Dickinson P, Smith SN, Webb S, Kilanowski FM, Campbell IJ, Taylor MS, Porteous DJ, Willemsen R, de Jonge HR, Farley R, Alton EW, and Dorin JR (2002) The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Human Molecular Genetics 11: 243-251.

Thomson P, Wray N, Thomson A, Condie A,Walker M, Pulford D, Muir W, Blackwood D, and Porteous D (2005) Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor. Molecular Psychiatry 10(5):470-8.

David Porteous publication list (PDF)