Professor David Porteous retires

Professor Porteous retired in March 2022 after a 50-year long association with the University of Edinburgh. As an undergraduate, he trained in Biological Sciences, majoring in genetics (1971-1975). He stayed on to undertake a PhD (1975-1978) in the genetics of flux control in Neurospora crassa with Dr Henrik Kacser, pioneer of what became known as systems biology.  He took a post-doctoral position in biomedical science in Oxford (1978-1981) before returning to Edinburgh for a MRC Recombinant DNA Training Fellowship with Professor Ed Southern at the MRC Mammalian Genome Unit (1981-1983).

In 1983, he joined to the MRC Clinical and Population Cytogenetics Unit (renamed the MRC Human Genetics Unit in 1988) to work with Professor Nick Hastie and Prof Veronica van Heyningen where he was closely involved in transforming the Unit into one of the leading centres in the rapidly advancing field of human molecular genetics. As Head of the Molecular Genetics Section from 1993-1999, he and his team developed translational research programmes in psychiatric genetics and cystic fibrosis gene therapy. Porteous was given a personal Chair at the University of Edinburgh in 1995.

His group identified several genes important in determining the risk of developing schizophrenia and related major psychiatric conditions, most notably DISC1 (Millar et al, Science, 2005; Science Magazine Scientific Breakthrough of the Year; IPSEN prize for neuroscience, 2015).

In cystic fibrosis gene therapy, his team’s 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 (Nature Genetics, 1993), leading directly to the first UK clinical trial of non-viral gene therapy for cystic fibrosis (Nature Medicine, 1995).  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 (Lancet Respiratory Medicine, 2015).

In 1999 he left the MRC Human Genetics Unit to become the University of Edinburgh Chair of Human Molecular Genetics and Medicine and Head of Medical Genetics at the Molecular Medicine Centre. He became Centre Director (2003-2015), in the renamed Centre for Genomic and Experimental Medicine. He was also 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 since 2000. 

His primary motivation to move to the University of Edinburgh was to establish a new programme in population heath genetics, Generation Scotland, a family and population-based study of genetic and environmental determinants of health and wellbeing. Between 2006-2011 24,000 adults from 7,000 family groups were recruited. Generation Scotland has extensive linkage to routine NHS records, questionnaire data, biochemical, genetic and proteomic data. Generation Scotland collaborates widely and has played a leading role in major depression research. In 2019, Porteous won a major award from the Wellcome Trust to expand and extend the Generation Scotland cohort to new families and younger participants, from age 12 and up. The Covid pandemic meant a 2-year delay to restarting recruitment.  During that period, Generation Scotland ran multiple on-line surveys of how adults, teenagers and rural communities were feeling and coping with the pandemic (over 50,000 responses) which fed into the MRC/NIHR National Core Studies research programme.  David will continue his involvement in Generation Scotland post-retirement as a research volunteer and hopes that his many of his University colleagues, their friends and relatives will join him!

In 2007 the Centre for Genomic and Experimental Genetics combined forces with the Edinburgh Cancer Research Centre and the MRC Human Genetics Unit to form the Institute of Genetics and Molecular Medicine (now Institute of Genetics and Cancer). After the MRC Human Genetics Unit joined the University of Edinburgh in 2012. Professor Porteous led the scientific case and architectural design of the capital development that now physically connects all three, officially opened by HRH The Princess Royal in 2016.

Made Emeritus Professor in 2017, Professor Porteous has published over 400 research papers throughout his career. He believes passionately in team science and acknowledges that all his success in science is success shared with others. He has long been active in Public Engagement in medical science.  He has served on many national and international advisory and research funding boards. He was scientific advisor to the House of Commons Select Committee on Science and Engineering that led to the establishment of the Human Genetics Commission. He is an elected Fellow of the Royal Society of Edinburgh, an Honorary Fellow of the Royal College of Physicians of Edinburgh, Fellow of the Academy of Medical Sciences and a member of EMBO. He received the Chancellor’s Award for Research in 2004.

He was awarded an OBE in 2013 for his contribution to science.

Centre for Genomic & Experimental Medicine

Prof David Porteous profile