Prof Peter Harper
Emeritus Professor, Medical Genetics
Research overview
ENTRY FOR DEPARTMENTAL WEBSITE. PROFESSOR PETER HARPER
Peter Harper is University Research Professor in Human Genetics at Cardiff University, since his retirement as Professor of Medical Genetics, University of Wales College of Medicine, in October 2004.
After studying genetics and medicine at Oxford University, with postgraduate work in Clinical Medicine in London and elsewhere, he trained in medical genetics, first in Liverpool with Cyril Clarke, then at Johns Hopkins School of Medicine, Baltimore, with Victor McKusick.
From 1971 he was responsible for developing medical genetics in Wales, based at University of Wales College of Medicine, Cardiff. His particular research interests have been in genetics of inherited neurological disorders, notably Huntington's disease and muscular dystrophies, forming a group that played a major role in isolating the genes for both Huntington's disease and myotonic dystrophy, as well as in the applications of molecular technology in relation to diagnosis and prediction for these and other disorders.
A publication list of peer reviewed papers can be found in PUBMED under Harper P S; he has also published monographs myotonic dystrophy (third edition 2001, OUP) and Huntington's disease (third edition 2002, OUP, with Gillian Bates and Lesley Jones).
In addition to research in medical genetics, Peter Harper built up, together with his colleagues, a comprehensive genetic counselling service for the whole of Wales, backed by laboratory services in molecular genetics and cytogenetics. His book Practical Genetic Counselling, first published in 1981 and now in it 6th edition, remains widely used.
He has also been involved in the development of public policy aspects and ethical issues of human genetics internationally, serving on the Human Genetics Commission (2000 to 2004) and on the Nuffield Council on Bioethics (2004 to present).
Since handing over the medical genetics academic department and service, Peter Harper has concentrated on developing an initiative, with the support of Wellcome Trust, the Genetics and Medicine Historical Network, (www.genmedhist.net), which aims to preserve and record the history of human and medical genetics in its different aspects. Recent activities include an International Workshop on Genetics, Medicine and History at Mendel's Abbey in Brno, Czech Republic, in May 2005. A series of recorded interviews with early workers in the field is in progress.
Historical books include Landmarks in Medical Genetics, OUP, 2004, a collection of classic papers with commentaries; and First years of Human Chromosomes, Scion Press (UK) and CSHRL Press (US), 2006, based on interviews with pioneers in human chromosome research.