255:(inherited blood disorders). As a lecturer at the University of Glasgow, he studied human gene organisation and expression. In 1970, he was the solo author of a paper that provided the dual discovery of the origin of cell-free DNA and the nucleosome organisation of DNA in chromosomes, including the first description of the "nucleosome ladder". Decades later, the geneticists Steven Henikoff and George Church hailed Williamson's report as “a remarkably prescient paper,” adding: “The simultaneous discovery of the nucleosome ladder and the origin of cfDNA in 1970 was thus correctly interpreted by Williamson, respectively 3 years and nearly 3 decades before the biological significance of nucleosomes and the clinical utility of cfDNA were appreciated.”
344:. Davies recalled: “With Bob, nothing was impossible; he always knew someone in the field who would be able to help whenever we needed a new technique or vector for cloning. He taught me how much more successful you could be as a scientist if you were collaborative and had an extensive network of basic and clinical scientists.” Hardy acknowledged that the “first 13 grant applications I wrote were unsuccessful and without the continuing support of Bob, our efforts would have foundered.”
321:
of an early embryo is more difficult, controversial and unlikely to be required clinically." Following the discovery of the CF gene in 1989, he turned his attention to developing strategies for gene therapy for CF patients in his final years at St. Mary's, including a non-viral proof-of-concept study in the inaugural issue of
320:
Williamson was an early proponent of human gene therapy, writing presciently in 1982: "Gene therapy is not yet possible, but may become feasible soon, particularly for well understood gene defects. Although treatment of a patient raises no ethical problems once it can be done well, changing the genes
258:
Williamson chose not to follow up on those results, turning his attention to messenger RNA and then the study of globin genes and the thalassaemias. In 1974, Williamson's group demonstrated that severe alpha-thalassaemia is due to a deletion in the alpha globin gene, and subsequently that delta-beta
278:. In 1985, Williamson lead one of three teams that independently mapped the gene mutated in cystic fibrosis to chromosome 7, sparking an intense international race to identify the gene. His group came close to isolating the defective gene, reporting a strong candidate in 1987, only to be scooped by
367:
He established training for genetic counsellors and public health paediatricians and continued working at the interface of ethics genetics, with a particular interest in
Aboriginal genomics. Williamson successfully broadened the orientation of the Murdoch Institute, growing it to some 600 staff by
259:
thalassaemia was attributed to a deletion in the beta globin gene. From his new position at St. Mary's
Hospital Medical School, Williamson's group went on to clone the human alpha-, beta- and gamma-globin genes from cDNAs, and used them to deduce their genomic structures.
708:
Wilton, L., Williamson, R., McBain J., Edgar, D., and
Voullaire, L. “Birth of a Healthy Infant after Preimplantation Confirmation of Euploidy by Comparative Genomic Hybridisation” N. Engl. J. Med, 345:1537-1541
371:
Williamson has published more than 400 scientific papers. He is an eloquent commentator and prominent evangelist for the societal benefits of genetic testing, from proposing community-wide carrier screening for
727:
Collins, V., Halliday, J., Kahler, S., and
Williamson, R. “Parents’ Experience with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study.” J. Genet. Coun. 10:53-72
699:
Choo, K.H.A. "David M. Danks, M.D., A.O. (June 4, 1931–July 8, 2003): Founder, Murdoch
Childrens Research Institute". American Journal of Human Genetics 73: 981–985 (2003). doi:10.1086/379383.
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Throughout the 1980s, Williamson and colleagues pursued the use of random DNA markers to map mutated genes responsible for several other major genetic disorders, including
880:
317:, a lecturer in Williamson's department, identified the first mutation associated with Alzheimer's disease in the gene encoding the amyloid precursor protein (APP).
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895:
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Murray, J.M. et al. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to
Duchenne muscular dystrophy. Nature 300, 69-71 (1982).
491:
Williamson, R. Properties of rapidly labelled deoxyribonucleic acid fragments isolated from the cytoplasm of primary cultures of embryonic mouse liver cells.
885:
875:
169:
328:
Williamson recruited and mentored many leading molecular geneticists during his two decades at St. Mary's
Hospital, including Royal Society Fellows Dame
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348:
225:
113:
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Ottolenghi, S. et al. Gene deletion as the cause of α thalassaemia: The severe form of α thalassaemia is caused by a haemoglobin gene deletion.
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Estivill, X. et al. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 326, 840-846 (1987).
850:
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Dodson, M. and
Williamson, R. “Indigenous People and the Morality of the Human Genome Diversity Project.” J. Med. Ethics 25:204-208 (1999).
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39:
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Hardy, J. The discovery of
Alzheimer-causing mutations in the APP gene and the formulation of the “amyloid cascade hypothesis”.
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Goate, A. et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial
Alzheimer's disease.
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45:
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Delatycki, M.B., Williamson, R. and Forrest, S.M. “Friedreich Ataxia; an overview.” J. Med. Genet. 37:1-8 (2000).
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Davies, K.E. The Long Journey from Diagnosis to Therapy. Ann. Rev. Genomics & Human Genet. 21, 1-13 (2020).
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Lench, N. et al. Simple non-invasive method to obtain DNA for gene analysis. Lancet 331, 1356-1368 (1988).
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the time he retired in 2005, pursuing research on ethics, public health, and genetics of complex diseases.
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to perform linkage mapping to locate the position of important human disease genes. In 1982, working with
355:. Williamson directed a broad research portfolio on a range of molecular genetics technologies, such as
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Henikoff, S. & Church, G.M. Simultaneous Discovery of Cell-Free DNA and the Nucleosome Ladder.
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232:. He edited several books on genetic engineering and on the ethics of the new genetic sciences.
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Wainwright, B.J. et al. Localization of cystic fibrosis locus to human chromosome 7cen–q22.
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Since his retirement in 2004, Williamson has been the Secretary for Science Policy at the
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In 1995, Williamson moved from London to Melbourne, Australia, to become Director of the
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99:
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By 1980, Williamson and colleagues began applying the discovery of DNA markers called
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and an Honorary Senior Principal Fellow (Professor) at the University of Melbourne.
193:
Williamson was born in Cleveland, Ohio, to Scottish parents. He was educated at the
248:
612:
252:
213:. From 1976 he was Professor and head of Molecular Genetics and Biochemistry at
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512:
329:
267:
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using cheek buccal epithelial cells obtained by a simple mouthwash. In 1991,
351:, taking over from David Danks, a clinical geneticist who had trained with
775:
Williamson, R. Universal community carrier screening for cystic fibrosis?
201:
in South London after his parents returned to the UK, before studying at
228:(then the Murdoch Institute) and Professor of Medical Genetics at the
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628:
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gene. Williamson is best known for his research on the genetics of
224:
He emigrated to Melbourne, Australia in 1995 to be Director of the
796:
309:. In 1988, Williamson's group also developed the first method for
539:
Ottolenghi, S. et al. δβ-Thalassemia is due to a gene deletion.
270:, Williamson's group narrowed down the location of the X-linked
247:
Williamson began his career working on haemoglobin synthesis in
595:
Kevin Davies. The search for the cystic fibrosis gene.
205:. From 1963 he was lecturer, then senior lecturer, in
791:
Williamson, R. & Duncan, R. DNA testing for all.
745:
743:
601:
https://www.newscientist.com/article/mg12416873-900/
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In 1997, he received an Honorary MD degree from the
673:
https://doi.org/10.1146/annurev-genom-112019-083518
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901:Academic staff of the University of Melbourne
613:https://doi.org/10.1016/S0140-6736(88)92178-2
8:
916:Fellows of the Australian Academy of Science
911:Fellows of the Royal College of Pathologists
497:https://doi.org/10.1016/0022-2836(70)90277-9
173:(born 1938) is a retired British-Australian
513:https://doi.org/10.1534/genetics.118.300775
386:King Faisal International Prize in Medicine
906:Fellows of the Royal College of Physicians
31:
264:restriction fragment length polymorphisms
881:The Bronx High School of Science alumni
473:. Murdoch Children's Research Institute
438:
891:Academics of the University of Glasgow
896:Academics of the University of London
349:Murdoch Children's Research Institute
226:Murdoch Children's Research Institute
114:Murdoch Children's Research Institute
7:
410:in 1999. He is also a Fellow of the
886:Alumni of University College London
876:Officers of the Order of Australia
781:https://doi.org/10.1038/ng0393-195
689:https://doi.org/10.1111/febs.14004
25:
449:. A & C Black, London. 2018.
427:Officer of the Order of Australia
357:preimplantation genetic diagnosis
215:St Mary's Hospital Medical School
82:Officer of the Order of Australia
27:Australian geneticist (born 1938)
645:https://doi.org/10.1038/298416a0
629:https://doi.org/10.1038/349704a0
585:https://doi.org/10.1038/326840a0
573:https://doi.org/10.1038/318384a0
557:https://doi.org/10.1038/300069a0
545:https://doi.org/10.1038/251389a0
529:https://doi.org/10.1038/251389a0
177:who specialised in the mapping,
797:https://doi.org/10.1038/418585a
251:(immature red blood cells) and
861:Australian medical researchers
392:, for medical applications of
1:
809:"Professor Robert Williamson"
425:In 2004, he was appointed an
420:Australian Academy of Science
416:Royal College of Pathologists
237:Australian Academy of Science
18:Robert Williamson (physician)
851:Fellows of the Royal Society
384:In 1994, he was awarded the
195:Bronx High School of Science
412:Royal College of Physicians
272:Duchenne muscular dystrophy
56:1938 (age 85–86)
937:
471:"Professor Bob Williamson"
376:to universal DNA testing.
303:craniofacial abnormalities
359:used in conjunction with
203:University College London
181:, and diagnosis of human
123:
88:
72:University College London
286:and colleagues in 1989.
687:284, 1040-1044 (2017).
299:coronary artery disease
230:University of Melbourne
118:University of Melbourne
866:Australian geneticists
495:. 51, 157-160 (1970).
406:He was elected to the
361:in vitro fertilisation
856:Australian biologists
795:418, 585-586 (2002).
643:298, 416-418 (1982).
627:349, 704-706 (1991).
571:318, 384-385 (1985).
527:251, 389-392 (1974).
211:University of Glasgow
207:developmental biology
197:in New York and then
295:Friedreich's ataxias
219:University of London
921:British geneticists
779:3, 195-201 (1993).
751:"Robert Williamson"
511:209, 27-29 (2018).
401:University of Turku
365:Friedreich's ataxia
334:Stephen D. M. Brown
307:Alzheimer's disease
179:gene identification
175:molecular biologist
543:9, 71-80 (1976).
394:molecular genetics
390:W. French Anderson
380:Honours and awards
353:Victor A. McKusick
291:myotonic dystrophy
104:Molecular genetics
871:Human geneticists
815:. 10 October 2012
813:King Faisal Prize
599:20 October 1989.
456:978-1-472-94758-1
199:Wandsworth School
183:genetic disorders
162:Robert Williamson
159:
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90:Scientific career
36:Robert Williamson
16:(Redirected from
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374:cystic fibrosis
323:Nature Medicine
311:genetic testing
284:Francis Collins
276:cystic fibrosis
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68:Alma mater
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60:Cleveland, Ohio
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147:/Williamson,
110:Institutions
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841:1938 births
403:, Finland.
151:_________AO
835:Categories
433:References
342:John Hardy
330:Kay Davies
315:John Hardy
268:Kay Davies
819:12 August
761:12 August
477:15 August
145:_profiles
509:Genetics
422:(2001).
418:and the
243:Research
728:(2001).
709:(2001).
658:et al.
209:at the
143:/alumni
141:/alumni
128:Website
793:Nature
641:Nature
625:Nature
569:Nature
525:Nature
453:
429:(AO).
414:, the
305:, and
189:Career
96:Fields
84:(2004)
78:Awards
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62:, USA
821:2018
763:2018
541:Cell
479:2018
451:ISBN
363:and
340:and
149:_Bob
137:.org
135:.rch
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170:FAA
139:.au
133:www
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43:FAA
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