Malcolm Ferguson-Smith was one of the first geneticists to provide a diagnostic and counselling service to patients with genetic conditions.
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While doctors had long recognised that many medical conditions were inherited, it was not until the late 1950s that it became possible to identify the physical differences in the genetic material that underlay them. Malcolm Ferguson-Smith (b. 1931) took advantage of the discovery that extra or missing sex chromosomes were the cause of conditions such as Klinefelter's and Turner's syndromes and undertook studies of these conditions in large populations. He was eventually able to map the position of the male sex-determining gene, and went on to play a central role in the Human Genome Mapping Project.
Ferguson-Smith's career therefore coincided with the earliest applications of physical knowledge of the gene to inherited conditions, as is well reflected in his publications and lectures. His extensive and wide-ranging correspondence documents the advance of this new branch of medical science, embracing academic debate as well as the social and ethical issues surrounding genetic diagnosis. One such issue was that of gender testing in Olympic athletes. Ferguson-Smith served on the gender verification working group of the International Amateur Athletic Federation, arguing that chromosome-based testing was more likely to exclude women unfairly than catch cheats.
He held chairs first at Glasgow and later at Cambridge, and had links with many organisations. He attended all the workshops of the Human Genome Organisation, of which he was a founding member. As a distinguished pathologist, he was invited to sit on the committee that reviewed the original response to the emergence of 'mad cow disease' in the late 1980s, and some of the papers of Lord Phillips's inquiry are included in his archive. In his retirement, Ferguson-Smith promoted the comparative study of animal genomes: looking for similarities between them provides a guide to genes that have been conserved through evolution and are therefore likely to be important for human health.
A native of Glasgow, Malcolm Andrew Ferguson-Smith followed his father into the medical profession. He became interested in genetics when working on a survey that revealed that many men with fertility problems or learning difficulties had an extra X chromosome, a condition known as Klinefelter's syndrome. He then spent three years working with the pioneering medical geneticist Victor McKusick at Johns Hopkins University in Baltimore, where he set up the first clinic in the USA to carry out diagnosis of chromosome abnormalities.
Returning to the University of Glasgow in 1961, he became the first Burton Professor of Medical Genetics there in 1973. In this role he established a regional genetics service, serving three million people in the west of Scotland. This gave him unprecedented access to genetic material that could now be explored with new techniques, allowing the locations of mutations or chromosomal dislocations to be mapped. He communicated his findings at international Human Gene Mapping workshops held between 1973 and 1991.
In 1987, Ferguson-Smith left Glasgow for the second time on appointment to the chair of pathology at the University of Cambridge, where he also ran the East Anglian regional genetics service. Nominally retired in 1998, he later set up the Wellcome Trust-funded Cambridge Resource Centre for Comparative Genomics, supplying DNA from specific chromosomes from over 120 species of bird, fish and amphibian so that scientists could learn about the evolutionary relationships between species and the functions of genes. He helped to discover that while most mammals make do with two sex chromosomes (X and Y), the duck-billed platypus has ten. He and his group continue to work on the comparative study of sex chromosomes at the Cambridge Veterinary School.
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