Remembering the life and work of Professor Peter Harper
Peter Harper, Emeritus Professor at the School of Medicine, and one of the world’s most outstanding and respected clinical geneticists, has died at the age of 81.

Peter Harper

He had worked in Cardiff since 1971. He was born and brought up in Barnstaple where his father Dr Richard Harper was a GP. His mother Margery (born Elkington) was a talented French scholar with a first from Oxford and a Doctorate from the Sorbonne who had sacrificed a promising academic career to follow her husband’s work. Peter grew up with a deep love of natural history and of the surrounding Devon countryside, but after considering a career directly related to these interests decided instead to follow his father into medicine. He went to Oxford University (Exeter College) in 1957 where he attended lectures in genetics and biology at the Department of Zoology in addition to his medical studies and, after completing his clinical training in London in 1964, was determined to combine genetics and medicine in his future career. There was no established path to do so, and initially he took jobs in paediatrics and internal medicine before moving in 1967 to Liverpool where he soon found a natural home with Cyril Clarke’s group (later Sir Cyril, president of the Royal College of Physicians). Like Peter, Cyril had a major interest in genetics that he had developed through his research on the swallow-tailed butterfly, and he had recently established the Nuffield Unit of Medical Genetics at the medical school. During his two years in Liverpool Peter worked on inherited oesophageal cancer at the medical school and on insect genetics at the Zoology Department. He and Elaine, who had married while in Liverpool, then moved to Baltimore, where Peter undertook a research fellowship at Johns Hopkins with Victor McKusick, leading to a doctorate on myotonic dystrophy. This condition became a clinical and research focus that he would maintain throughout his professional life.
Returning to the UK in 1971 Peter was appointed as a clinical lecturer in the Department of Medicine at the University of Wales College of Medicine – this was long before the merger with Cardiff University. From this base he developed links with biochemists, pathologists and others who he started to bring together to establish a formal Department of Medical Genetics. This expanded rapidly in both its research and NHS activities. Initially, Peter provided the clinical service single handed while also taking a share of the acute general medical workload for the hospital, but soon the clinical team started to grow and the work of delivering services across Wales could be shared. Peter’s research interests focused particularly on muscular dystrophies and Huntington’s disease, and Cardiff soon became an internationally renowned centre for both.
In 1987, following years of planning, Peter’s vision for an integrated academic and NHS centre were realised with the opening of the Institute of Medical Genetics on the University Hospital of Wales campus. Within a relatively small building it eventually housed genetics outpatient clinics, clinicians and genetic counsellors, NHS and university molecular genetics teams, cytogeneticists, a newborn biochemical screening lab, fetal pathology, experts in computer programming and mathematical genetics, social scientists, psychiatrists and psychologists. The diversity of professionals created a unique atmosphere in which many different skills and perspectives were brought to bear on inherited conditions. Peter’s long-term projects to identify the genes for myotonic dystrophy and Huntington’s disease were bought to a successful conclusion through international collaboration, evidence-based approaches to predictive genetic testing were developed and contentious areas such as genetics and insurance, and genetic testing in children were explored in depth, leading to policies that led the way internationally. Throughout these endeavours the views of patients and their families were always valued and their organisations including the Myotonic Dystrophy Support Group and the Huntington’s Disease Association were involved as equal partners. A steady stream of scientists, clinicians and genetic counsellors spent time training at the Institute. They were also welcomed for social events into Peter and his wife Elaine’s home, often becoming long-term friends as well as professional colleagues. Many went on to become leaders in their professions, working in other centres and seeding aspects of Peter’s holistic approach nationally and globally.
Throughout his time directing the Institute, Peter’s leadership style was informal, generous and encouraging. He was also perfectly able to take tough decisions and when doing so almost invariably made the right call. On those rare occasions when things did not work out as he expected, he turned what others might have considered mistakes or failures that should be quickly forgotten into opportunities to improve the way things would be done in future, often publishing them as case studies. As with all his writing, the reports were clear and accessible. He authored a number of books, some aimed at professionals, others for patients. His “Practical Genetic Counselling” was hugely successful, being translated into numerous languages and, after seven previous editions recently being updated as an eighth by Peter’s colleague Angus Clarke.

Peter Harper Tribute

Peter stepped down as Head of Department in 2000 and, before retiring fully in 2004 started to develop a long-term project to record the history of medical genetics (the Genetics and Medicine Historical Network), primarily through interviews with those who had been involved, many in advanced old age, and the archiving of their documents. This turned into a major undertaking, occupying Peter until the end of his life and involving much international travel. The endeavour also included careful documentation of historical and contemporary abuses of genetics in Europe, America, Russia and China. This important work, particularly recording the personal testimonies and reflections of elderly clinicians and scientists, required trust and understanding and was something that only someone of Peter’s stature could have accomplished. Much of the material he accumulated can be read in his books, including “A Short History of Medical Genetics” (2008) and “Evolution of Medical Genetics - A British Perspective” (2020) and accessed online at
Outside Cardiff, Peter Harper was active in professional societies and networks nationally and internationally, such as the Clinical Genetics Society, the British Society for Human Genetics (now the BSGM) and the Royal College of Physicians; also in the European Society of Human Genetics, which he helped to reform in the 1980s, the American College of Medical Genetics, which awarded him its lifetime achievement award and the American Society of Human Genetics, of which he was a member for over 50 years. He was chief editor of Journal of Medical Genetics for 10 years (1986-1996) and a member of the Human Genetics Commission and the Nuffield Council for Bioethics. He was awarded a CBE (1994) and a Knighthood (2004) for services to medicine and to medical genetics (but he never used the title).
Peter always prioritised spending time with his family as a husband, father and grandfather. He particularly enjoyed sharing his passion and extensive knowledge of nature and wildlife with the family and made visits to his eldest son and his family in Australia each year. Peter is survived by his wife Elaine (m. 1968) and their children, Mathew, Emma, Nicholas, Katy and Lucy.