Tuesday, January 10, 2012

Fifty years in clinical and human genetics

One of the Wellcome Trust’s challenge areas is maximising the health benefits of genetics and genomics.

Relating directly to this are the personal papers of Professor George Robert Fraser, which are now available for consultation in the Wellcome Library. George Fraser has dedicated his career to understanding the role of clinical genetics particularly in relation to inherited disabilities.

Fraser was born into a medical family in Užhorod, a town then in Czechoslovakia, in 1932. In 1939 he came to England with his family and went on to study the Natural Sciences Tripos at the University of Cambridge. Between 1952-1953 he opted to study genetics under R. A. Fisher. He completed his clinical training in medicine at the London Hospital (B.Chir. 1956, M.B. 1957) and was then awarded a Medical Research Council Scholarship in human medical genetics and moved to the Galton Laboratory, University College London to work under L. S. Penrose.

On completion of his Ph.D. in October 1959, Fraser joined the Medical Research Council Population Genetics Research Unit in Oxford. It was here that he began a study of the causes of profound childhood deafness, studying 2,330 children in special schools for the deaf in the UK and Ireland. The work of this and further surveys was published in 1976 as The Causes of Profound Deafness in Childhood. A study of 3,535 individuals with severe hearing loss present at birth or of childhood onset.

In his 1962 paper, 'Our genetical load: a review of some aspects of genetical variation', Annals of Human Genetics, Vol. 25, Fraser identified a multiple malformation syndrome later known as Fraser Syndrome. Fraser Syndrome is commonly characterised by cryptophthalmos, syndactyly and renal defects. There may also be malformations of the nose, ears, throat and genitals and many other organs. In the 1990s the locus responsible for the condition was tentatively identified as being on chromosome 4 and in the early 2000s the gene involved was shown to be at chromosome 4q21 and was named FRAS1 in Fraser’s honour.

In March 1963 Fraser worked on a study of blindness in childhood. This study involved 776 children at schools for the blind, and was a replica of his previous study of childhood deafness. The research was used for his M.D. thesis and was published as The Causes of Blindness in Childhood. A study of 776 children with severe visual handicaps. On the completion of the work, in January 1966, Fraser moved to the University of Adelaide where he undertook further extensive studies of blind children and of both adults and children with profound childhood deafness, in Adelaide and its surroundings.

Throughout his career Fraser held many positions all over the world from Seattle to The Netherlands to Canada, and was involved in different research projects including work on the distribution of blood polymorphisms, genetical load, the concentration of common variable immunodeficiency, and Hodgkin's disease. In 1984 Fraser returned to the UK and was appointed Senior Clinical Research Fellow in the Imperial Cancer Research Fund and Honorary Consultant in Medical Genetics at the Churchill Hospital, Oxford. Fraser established a Registry of Familial Cancer, comprising families with unusual aggregations of common cancers and in 1990 he established the Cancer Genetic Clinic at the Churchill Hospital (ref. PP/GRF/F). He reached formal retirement age in 1997, but continued for two years as an unpaid Honorary Consultant (non-clinical) in the Department of Medical Genetics at the Churchill Hospital.

The papers of George Fraser document his long career in human and clinical genetics and cover his major research activities. As such the collection includes a large amount of medical case files, particularly in sections B and C, the majority of which are closed under the Data Protection Act. This collection has been catalogued by Timothy Powell and Simon Coleman, with the advice of Professor Fraser, as part of a project hosted by Cardiff University’s Special Collections and Archives and funded through a grant from the Wellcome Trust Research Resources in Medical History programme.

Image: Photograph of George Fraser in Chicago (ref. PP/GRF/A.41)

Author: Toni Hardy

 
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