Noted medical geneticist Sir Peter Harper dies at the age of 81

S.e Peter Stanley Harper, an influential British geneticist who authored several popular books on the ethics and history of medical genetics, died on January 23rd. He was 81 years old.

Harper, known for his work on myotonic dystrophy and Huntington’s disease, became a respected voice in the late 20th century in medical genetics, dealing with both the technical aspects of molecular diagnosis and social implications the use of such approaches in the clinic.

“Peter’s impact on clinical genetics has been tremendous,” said a statement from Twitter from All Wales Medical Genomics Service, a genetic testing and counseling service that Harper helped develop during his decade-long career at the University of Wales College of Medicine (now merged with Cardiff University). “His work has helped countless people around the world affected by hereditary diseases and has been instrumental in the development of genetic and genomic medicine both in Wales and internationally.”

Harper was born in Barnstaple, southern England, in 1939 and grew up with a keen interest in nature. In 1961 he graduated from Oxford University with a degree in physiology, majoring in zoology and genetics. A few years later he graduated with a medical degree from Oxford.

This mix of basic and applied science would help shape the course of Harper’s career. “I was very enthusiastic about the scientific aspects,” recalled Harper a few years ago in an interview with the research group “History of Modern Biomedicine”. “I wanted to take something both scientific and medical forward, and genetics was an opportunity to combine the two.”

Peter Harper

With the kind permission of CARDIFF UNIVERSITY

After a few years as a clinician, Harper went to Cyril Clarke at the University of Liverpool in 1967 and later to Baltimore to work with Victor McKusick at Johns Hopkins University. Both Clarke and McKusick were interested in the potential of genetics from trained physicians to help researchers better understand human diseases. Harper’s experience with them “really gave me the skills to come back and practice as a clinical geneticist,” he said in an interview on the history of modern biomedicine.

In 1971 Harper accepted a position as a lecturer in medical genetics at the University of Wales College of Medicine, Cardiff. While there, he focused his research on studying two disorders: myotonic dystrophy, a disease that causes muscle wasting and weakness, and Huntington’s disease, a progressive brain disorder that usually occurs in a person’s 30s or 40s.

Over the next few decades, Harper published several clinical and genetic studies of families with these disorders, helping identify the locations of human genes responsible for myotonic dystrophy and Huntington’s disease. The work of Harper and colleagues also contributed to understanding the mechanisms underlying the conditions both associated with trinucleotide repeat expansion, a specific type of genetic defect that leads to chromosomal instability and the subsequent loss or repetition of large ones Can carry sections of DNA.

In 1987 he founded and became director of the Institute of Medical Genetics at Cardiff University, which was to house the Medical Genetics Service (now All Wales Medical Genomics Service) as well as academic and clinical researchers. At the time, there were very few institutes that covered such a broad spectrum from basic science – including biochemistry and computer science – to clinical practice and diagnosis, says Julian Sampson, a clinical geneticist at Cardiff University School of Medicine who worked with Harper worked together in 1989.

“It was a pretty unusual vision that he had – but one that worked very well,” says Sampson The scientist. Harper encouraged people across the institute to ask questions and “challenge the dogma or the status quo,” Sampson added. “The institute was always based on informal interactions. . . . It was a special place. “

Aware of the medical and societal implications of his work, Harper has authored several scientific articles and policy papers addressing ethical issues related to prenatal testing and predictive genetics in Huntington’s disease and other diseases. “As Huntington’s disease is a model for other adult diseases for which testing becomes possible, successful resolution of these ethical issues is of great importance,” he and a colleague wrote FASEB Journal 1992. “Otherwise, genetic testing as a whole could be discredited.”

Because of this high-level perspective and the ability to bring many different skills to a given subject, he has been highly valued in the field of medical genetics.

– Julian Sampson, Cardiff University Medical School

His book from 1981 Practical genetic advice, aimed at healthcare professionals, has been translated into several languages ​​and has become an essential text for genetic counselors and others working in clinical genetics. “It was probably the first book that really tried to set out the principles and practical uses of genetic counseling,” says Sampson. “It turned out to be extremely popular.” The eighth edition, edited by Cardiff University clinical geneticist Angus Clarke, came out in 2019.

After resigning as director of the Institute for Medical Genetics in 2000, Harper devoted time to documenting the history of his field, writing several books and articles on the subject, and traveling across Europe to interview 100 human geneticists – a series he captured an article from 2017 on the 50th anniversary of the European Society of Human Genetics. He also helped set up the Genetics and Medicine Historical Network and wrote Milestones in Medical Genetics, and later, A Brief History of Medical Genetics. He was knighted for services to medicine in 2004, the same year he retired from university.

In one of his last published articles in 2017, Harper pleaded with younger geneticists to learn from the history of their subject. Regarding the problematic ideologies often associated with genetics – from eugenics in Europe to the persecution of geneticists in the Soviet Union – he wrote: “The documentation and memory of these traumatic events that younger workers have since largely forgotten is essential to fully understanding the history of human genetics and avoiding repetition of similar disasters in the future. “

This broad perspective is still relatively uncommon in human genetics, says Sampson. “One of the great strengths that [Harper] had was to have this broad perspective and to take the social consequences and science very much into account. . . . Because of this high-level perspective and the ability to bring many different skills to a given subject, he has been highly valued in the field of medical genetics. “

Harper is survived by his wife Elaine and five children.

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