The study of genetics has had, and continues to have, a huge impact on modern biomedicine. From the discovery of the structure of DNA in the early 1950s, through to the sequencing of the human genome, the language and concepts of genetics have permeated everyday conversation, and revolutionised many fields of medical science and clinical practice.
As a laboratory technician in the 1970s/1980s at Leiden University, Professor Bert Bakker was at the forefront of developments in molecular genetics at Leiden University. In this video interview, he discusses his work on the first prenatal diagnosis of Duchenne muscular dystrophy, finding proof of germline mosaicism in humans, and the development of genetics services for families in The Netherlands.
After graduating from medicine in Cape Town in 1954, Professor Victor Dubowitz relocated to the UK and became interested in muscular dystrophy research and patient care. Alongside his hospital work, he conducted research on the histochemistry of dystrophic muscle, and continued in academia at Sheffield, as Reader in Child Health and Developmental Neurology, and as Chair of Paediatrics and Neonatal Medicine at Hammersmith Hospital. In 1995, he founded the World Muscle Society.
While training in pathology, Professor Malcolm Ferguson-Smith remembers his entry into genetics research via Klinefelter’s Syndrome. In 1959, he set up the first cytogenetics or ‘chromosome clinic’ in the USA. Back in Scotland, he founded one of the earliest regional genetic services in the UK, and was a key contributor to developing amniotic fluid-testing techniques for prenatal diagnosis.
Emeritus Professor of Human Genetics in Cardiff, Peter Harper is a world-renowned geneticist and author. Along with his landmark discoveries in the genetics of muscular dystrophies and Huntington’s disease, he helped to set up medical genetics services in Wales. His book Practical Genetic Counselling (1998) is utilised by clinicians worldwide, and he is also the author of A Short History of Medical Genetics (2008). Knighted in 2004, he was a consultant to the History of Modern Biomedicine Research Group.
One of the first clinical geneticists to specialise in familial cancers, Professor Shirley Hodgson co-authored the first textbook on human cancer genetics, and has worked on several genetic diseases. As the daughter of the renowned geneticist Lionel Penrose, she initially avoided the field and moved somewhat unintentionally from general practice into genetics.
Falling into genetics ‘by accident’, Dr Patrick MacLeod transformed the lives of patients with paediatric neurological disorders. Holding clinical professorships at the universities of Victoria and British Columbia, he initiated work on the gene mapping of spinocerebellar ataxia with families; he was one of the first doctors who used such specialised techniques in a clinical setting.
In a long career at St Mark’s Hospital, Kay Neale discusses her vital work in the development of polyposis screening, and the world-renowned Polyposis Register. She recalls the extraordinary progress in genetic research in which she participated with data from patients at St Mark’s, whose samples helped to identify the APC, and MYH, genes associated with polyposis; a condition that leads to bowel cancer.
Well-known for his contributions to the understanding of Angelman syndrome and Prader-Willi syndrome, Professor Marcus Pembrey was the first to explain the mechanism of their inheritance, while Honorary Consultant in Clinical Genetics at Great Ormond Street Hospital. He was also among the first clinical researchers who used precise DNA analysis techniques in familial genetics services.
Trained in biophysics at the University of East London, Professor Chris Rawlings went on to work in the Imperial Cancer Research Fund, managing the innovative computer infrastructure for the Human Gene Mapping Workshops that were held in the UK in the 1990s. Moving into industry, he worked for SmithKline Beecham and Oxagen Ltd in bioinformatics and genomic technologies. From 2004, he led the Department of Computational and Systems Biology at the charitable body, Rothamstead Research.
To capture some of the excitements and disappointments, the advances and the problems of recent developments, several Witness Seminars have addressed specific areas of clinical and medical genetics:
Many professional geneticists have been included in the Genetics and Medicine Historical Network’s series of interviews http://www.genmedhist.info/interviews/ and, if so, those interviewees do not feature in this collection/resource. In such cases, only briefer video interviews have been undertaken that ask about particular highlights of an individual’s career. Those not included in the Network’s database have contributed to longer audio-only interviews and have also been interviewed on video, as above. Thus, for a given geneticist/interviewee’s video clips, the transcript of the video interview and the transcript of a longer audio interview may be available.