Professor Sir Peter Harper, clinical geneticist who shed light on inherited diseases obituary – Telegraph.co.uk

Professor Sir Peter Harper, who has died aged 81, was one of the worlds most respected clinical geneticists.

As Professor of Medical Genetics at Cardiff University he focused on muscular dystrophies and Huntingtons disease, and Cardiff soon became an internationally renowned centre for both.

Harpers research showed that both of the conditions he focused on, myotonic dystrophy and Huntingtons disease, resulted from expansion of unstable repetitive DNA sequences explaining how they tend to get worse as the condition passes down the generations a phenomenon that is termed genetic anticipation.

In 1987, following years of planning, his vision for an integrated academic and NHS centre for medical genetics was realised with the opening of the Institute of Medical Genetics.

The relatively modest building eventually housed outpatient clinics, clinicians and counsellors, NHS and university molecular genetics teams, cytogeneticists, a newborn biochemical screening lab, foetal pathology, experts in computer programming and mathematical genetics, social scientists, psychiatrists and psychologists.

This professional diversity created a unique atmosphere in which many different perspectives were brought to bear on inherited conditions. The genes for myotonic dystrophy (characterised by progressive muscle wasting) and Huntingtons disease (a progressive brain disorder) were identified and, remarkably, each were shown to result from different unstable expansions affecting repetitive DNA sequences.

Evidence-based approaches to predictive genetic testing were developed and contentious areas such as genetics and insurance and genetic testing in children were explored.

Throughout these endeavours the views of patients and their families were given priority and organisations including the Myotonic Dystrophy Support Group and the Huntingtons Disease Association were involved as equal partners. Harpers guide, Practical Genetic Counselling was translated into many languages and has run to eight editions.

Peter Stanley Harper was born on April 28 1939 and brought up in Barnstaple, Devon. His father Richard was a GP; his mother, Margery (ne Elkington) was a talented French scholar who sacrificed a promising academic career to follow her husbands work.

From Blundells School, Tiverton, Peter won a scholarship to read Medicine at Exeter College, Oxford, where he also attended zoology lectures in genetics and biology.

Determined to combine genetics and medicine in his future career, in 1967 he moved to Liverpool to work with Cyril (later Sir Cyril) Clarke, who had just established a new unit for medical genetics.

There, Harper worked on inherited oesophageal cancer while also investigating insect genetics at the university zoology department. In 1968 he married Elaine and they moved to Johns Hopkins University, Baltimore, in 1969. There he completed a doctorate on myotonic dystrophy, a condition that became a clinical and research focus throughout his professional life.

Returning to Britain in 1971, Harper gained a clinical academic post in the Department of Medicine in Cardiff, where he remained until his retirement.

Before retiring, Harper started a project to record the history of medical genetics. This turned into a major undertaking, occupying him 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. 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 http://www.genmedhist.org.

Harper was active nationally and internationally, through roles with the Clinical Genetics Society and the Royal College of Physicians, the European Society of Human Genetics, the American College of Medical Genetics (which awarded him its lifetime achievement award in 1994) and the American Society of Human Genetics. He was chief editor of the Journal of Medical Genetics (1986-96), and a member of the Human Genetics Commission and the Nuffield Council for Bioethics.

He was appointed CBE in 1994 and knighted in 2004, although he never used the title. He particularly enjoyed sharing his passion and knowledge of nature with his family; he is survived by his wife Elaine, and by three daughters and two sons.

Sir Peter Harper, born April 28 1939, died January 23 2021

See the article here:
Professor Sir Peter Harper, clinical geneticist who shed light on inherited diseases obituary - Telegraph.co.uk