Peter Stanley Harper

نویسندگان

چکیده

Influential clinical geneticist. He was born in Barnstaple, Devon, UK, on April 28, 1939, and died of a stroke Cardiff, Jan 23, 2021, aged 81 years. When Peter Harper returned to the UK 1971 after year USA, he did so with reinforced determination forge career medical genetics, then still its relative infancy. This decision should have prompted him look for work one few British universities where discipline already had foothold. It not. “Instead, chose take consultant level position there wasn't any history [on genetics]”, explains Julian Sampson, retired Professor Medical Genetics at Cardiff University School Medicine, UK. “Quite brave move.” offered an opportunity create way working that reflected his own view how things be done. The choice proved fruitful. By 1987, new Institute Human Wales College Medicine (now University), as Director. “I'd been interested genetics long time, scientifically, I'd always wanted try combine it medicine”, told interviewer 2015. “At time I school didn't really much chance doing that.” enrolled Oxford, where, besides studying medicine, could attend Zoology Department lectures genetics. completed subsequent training London St Thomas's Hospital 1964. “I trained adult hospital internal explained, “because began far from clear whether would long-term jobs [in field].” In 1967, moved Liverpool Sir Cyril Clarke, who himself managed practice A couple years later, 2-year fellowship Johns Hopkins Baltimore, MD, worked geneticist Victor McKusick myotonic dystrophy, completing doctorate this genetic disorder. Following return continued study dystrophy. At also developed interest Huntington's disease. “But lab boffin”, according McGuffin, Emeritus Psychiatric King's London, spent period psychiatric Cardiff. “He linkage Hopkins, but clinician promoted basic scientists.” And not only scientists, McGuffin adds. “When came around group people quite different backgrounds.” mixture, unusual included social workers psychologists because among first appreciate importance sciences counselling. Although number single gene disorders, dystrophy disease preoccupied him. As later “What no idea about when started these two disorders [would prove] due same mechanism. feel extraordinarily fortunate able follow story…to mapping genes involved, discovery…of molecular defect.” creation integrated academic National Health Service centre culmination recruiting staff accumulating variety expertise. “Peter big service development, policy applications technologies health care”, Sampson. very patient focused.” Despite research interests, remained clinician, which perhaps accounts emphasis placed collaboration support groups such Disease Association Myotonic Dystrophy Support Group. His 1981 book Practical Genetic Counselling long-lasting, international success. After retirement 2004, University's Medicine. collegiate cooperative approach”, says other people's perspectives things…He far-sighted ability anticipate what knowledge technical advances might lead to.” describes exceptionally bright “an easy-to-get-along-with sort person build up whole department nothing—which is exactly did.” leaves wife, Elaine, their children, Emma, Katy, Lucy, Matthew, Nicholas.

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ژورنال

عنوان ژورنال: The Lancet

سال: 2021

ISSN: ['1474-547X', '0099-5355', '0140-6736']

DOI: https://doi.org/10.1016/s0140-6736(21)01104-1