Professor David Porteous


Prof. Porteous trained in genetics at the University of Edinburgh then undertook a PhD in the genetics of flux control in Neurospora crass with Dr Henrik Kacser, pioneer of what we now call Systems Biology.  Following post-doctoral training in biomedical science in Oxford, he returned to Edinburgh to take up an MRC Recombinant DNA Training Fellowship with Professor Ed Southern at the MRC Mammalian Genome Unit.

In 1983, he moved to the MRC Human Genetics Unit to join Professor Hastie, FRS, where he was closely involved with Hastie and Prof. van Heyningen, FRS in transforming the Unit into one of the leading centres in human molecular genetics. Promoted in 1993 to Head of Molecular Genetics, when Hastie assumed the Directorship of MRC HGU, Porteous developed his major current strands of translational research in psychiatric genetics, cystic fibrosis gene therapy and population health genetics. 

He was appointed to a newly established Chair of Human Molecular Genetics and Medicine at the University of Edinburgh in 1999 and Head of Medical Genetics within the Centre for Genomic and Experimental Medicine (CGEM, formerly known as the Molecular Medicine Centre), which he directed from 2003-2015. He is also the founding Director of the Genetics Core at the Wellcome Trust Millennial Clinical Research Facility, providing state-of-the-art genetics and genomics support for clinical investigators ( He was made Emeritus Professor in 2017.

When the MRC Human Genetics Unit joined the University of Edinburgh in 2007 and amalgamated with the Edinburgh Cancer Research Centre and CGEM to form the Institute of Genetics and Molecular Medicine (, he led the scientific case and architectural design of the capital development that now links the three constituent research centres.  

He was elected a Fellow of the Academy of Medical Sciences in 1999, a Fellow of the Royal Society of Edinburgh in 2001, an Honorary Fellow of the Royal College of Physicians, Edinburgh in 2004 and a member of EMBO in 2009. In 2013, he was awarded an OBE for contributions to science.

He has published over 400 research papers:

The 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. 

In psychiatric genetics, his group has identified several genes of major effect in determining the risk of developing schizophrenia or bipolar affective disorder, most notably DISC1, now recognized as one of the best validated and informative findings in the field (Millar et al, Science, 2005, Science Magazine Scientific Breakthrough of the Year).

In cystic fibrosis gene therapy, his contribution started with development of a transgenic mouse model of the disease (Dorin et al, Nature, 1992 and MRC Principal Achievement, 1992), continued with rescue of the biochemical defect in the CF mutant mice by gene therapy, leading directly to the first UK clinical trial of non-viral gene therapy for cystic fibrosis (Nature Medicine, 1995) and the first clinical trial in Scotland.  In 2001, his group joined with Imperial College London and Oxford University to form the UK Cystic Fibrosis Gene Therapy Consortium to develop and apply the next generation of clinical gene therapy. 

In population health genetics, Porteous conceived and initiated Generation Scotland (, a major collaborative initiative between the Scottish Medical Schools and the NHS in Scotland


Academic Qualifications

  • Bachelor

    • 1975, Bachelor of Science, University of Edinburgh
  • Doctorate
    • 1979, Doctor of Philosophy, PhD, University of Edinburgh

View all 628 publications on Research Explorer