www.cgem.ed.ac.uk
www.igmm.ac.uk
www.wtcrf.ed.ac.uk
www.cfgenetherapy.org.uk
www.generationscotland.co.uk

http://www.nutshell-videos.ed.ac.uk/david-porteous-genes-to-medicine/

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. 

Appointed as a newly established Chair of Human Molecular Genetics and Medicine at the University of Edinburgh in 1999 and Head of Medical Genetics (www.genetics.med.ed.ac.uk), he is now also Director of the Centre for Genomic and Experimental Medicine (www.cgem.ed.ac.uk) and 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 (www.wtcrf.ed.ac.uk).

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, with Phase 2b trial on-going. 

In population health genetics, Porteous conceived and initiated Generation Scotland (www.generationscotland.org), a major collaborative initiative between the Scottish Medical Schools and the NHS in Scotland. He is now leading the development of Systems Medicine Edinburgh at the Institute of Genetics and Molecular Medicine (www.igmm.ed.ac.uk ).

Population health genetics; psychiatric genetics; cystic fibrosis therapy

Professor David Porteous, OBE, FRSE, FMedSci, FRCPE is Professor of Human Molecular Genetics & Medicine at the University of Edinburgh, Head of the Medical Genetics Section, Director of the Centre for Genomic and Experimental Medicine at the Institute of Genetics and Molecular Medicine and Director of the Genetics Core at the Wellcome Trust Clinical Research Facility Western General Hospital Campus. He is also founder and lead investigator on Generation Scotland (www.generationscotland.org).

His laboratory research focuses on a) gene therapy for the inherited lung disorder of cystic fibrosis, b) genetic determinants of common causes of ill health, and c) the genetics and biology of psychiatric illness. In psychiatric genetics research, he is best known for the discovery of DISC1 which plays a critical role in brain development and signalling. He was an advisor to the Schizophrenia Research Forum (2008-2010) and is a member of the Wellcome Trust Expert Review Group for Cognitive Neuroscience and Mental Health.  

University of Dundee
University of Aberdeen
University of Glasgow
Imperial College London
University of Oxford
Cold Spring Harbor Laboratories

How do genes (nature) and the environment (nurture) influence our life course and our health? Our lifestyle (exercise, diet, smoking, drinking) have a direct effect, but apart from these few examples it is hard to measure and monitor our environment and draw conclusions about their influence. By contrast, it is now possible to test our genes with great accuracy, all 20,000 of them. This is the idea behind Generation Scotland in which 24,000 participants from 7,000 families are being studied for how their health and that of their relatives relates to their genes and lifestyle. This work is supported by the Edinburgh Wellcome Trust Clinical Research Facility Genetics Core which we set up in 1999 to support all medical researchers asking genetic questions. So far over 150 teams have benefited from the facility, resulting in over 300 scientific publications.

I have two main personal research interests:

Cystic fibrosis is a clear-cut inherited disorder. Both parents are unaffected carriers, but each child has a one in four chance of inheriting a faulty gene from both parents and inheriting the disease. The most serious problem for CF patients is repeated, damaging lung infection. Since the cystic fibrosis gene was identified in 1989, we have been searching for a safe and effective way to use a working copy of the cystic fibrosis gene as a novel therapy. This is a new and exciting concept, but involves many time-consuming and costly steps along the way. Working with colleagues in London and Oxford, we have completed a promising trial of our latest formulation and are now conducting a larger, longer study to see if it is clinically effective.

The brain is the most complex organ in the body. Many genes determine how our brains develop and how we learn, think and remember. Psychiatric illnesses, such as schizophrenia, bipolar disorder and depression are serious and poorly treated brain disorders, collectively affecting a quarter of the population. They tend to run in families, so genes are important. We have identified several, of which Disrupted-in-schizophrenia 1 (DISC1) has been the most informative. DISC1 controls many of the genes important in how the brain is built and how brain cells signal one another. My hope is that this type of genetics-led research will improve our knowledge, understanding, conceptualisation and treatment of these conditions.