Grant Robert Sutherland

Grant Robert Sutherland AC FAA FRA
Born	(1945-06-02) 2 June 1945 (age 79) Bairnsdale, Australia
Alma mater	University of Melbourne (BSc), (MSc); University of Edinburgh (PhD), (D.Sc.)
Known for	Discovery of chromosomal fragile sites, Cloning of chromosome 16
Awards	Australia Prize (1998), Centenary Medal (2001), Australian Achiever (2001), Companion of the Order of Australia (1998)
Scientific career
Fields	Human Genetics
Institutions	Women's and Children's Hospital, University of Adelaide
Thesis	Studies in human genetics and cytogenetics (DSc)
Website	www.adelaide.edu.au/robinson-research-institute/about-us/researchers/emeritus-faculty#professor-grant-sutherland-ac

Grant Robert Sutherland AC (born 2 June 1945) is a retired Australian human geneticist and cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.

He developed methods to allow the reliable observation of fragile sites on chromosomes. These studies culminated in the recognition of fragile X syndrome as the most common familial form of intellectual impairment, allowing carriers to be identified and improving prenatal diagnosis. Clinically, his book on genetic counselling for chromosome abnormalities has become the standard work in this area. He is a past President of the Human Genetics Society of Australasia and of the Human Genome Organisation.

Early life and education

Sutherland was born in Bairnsdale, Victoria, on 2 June 1945. His father had served as a soldier in World War II and qualified for the soldier settlement farm scheme; as such, when Grant was 12, the family moved to a dairy farm at Numurkah. As a teenager, he bred budgerigars, which he credits for starting his interest in genetics. After completing at Numurkah High School, he left home and moved to Melbourne.^[1]

He studied at the University of Melbourne, graduating in 1967 with a BSc major in genetics and a sub-major in zoology. During vacations, he worked at the CSIRO as a technician, in the team that was developing a vaccine for contagious bovine pleuropneumonia. Still at the University of Melbourne, he went on to graduate with a MSc in 1971. He undertook his doctoral studies at the University of Edinburgh, graduating with a PhD in 1974 and a DSc in 1984, presenting the thesis Studies in human genetics and cytogenetics^[2][3][1]

Career

After graduating with his BSc in 1967, Sutherland starting work as a cytogeneticist in the Chromosome Laboratory of the Mental Health Authority, Melbourne. In 1971, he became the Cytogeneticist-in-Charge in the Department of Pathology, Royal Hospital for Sick Children, Edinburgh, a role he held until 1974.^[3]

After graduating with his PhD, in 1975, Sutherland took up the role of Director of the Department of Cytogenetics and Molecular Genetics at the Women's and Children's Hospital (WCH) in Adelaide. In 2002, he moved to the role of Foundation Research Fellow at WCH, a position which he held until 2007.

In 1990, he also took on the role of Affiliate Professor in the Departments of Paediatrics and Genetics, University of Adelaide, and became Emeritus Professor in 2017.^[3][4]

Research

While at WCH, Sutherland's principal focus was on chromosomal fragile sites. Large family studies of genetic diseases revealed unexpected patterns, where some men were "carriers" who did not display the disease themselves but passed it on to their daughters. This was contrary to conventional genetic wisdom: "There was no way a male could pass on an X-linked disease without having it himself, or so we thought," Sutherland said. "We'd go to medical conferences with photos of these men, photos of their businesses and copies of their university degrees to show the sceptics they were normal. They didn't believe that a male could have this genetic mutation and be OK."^[5]

The explanation was in the DNA, which Sutherland commenced mapping in detail. He found that the fragile X fault behaved differently to most genetic mutations; it builds up as it replicates through generations until it reaches a threshold where the full-blown syndrome is triggered. Such a disease mechanism, where genetic abnormalities accumulate until they reach a critical level, had not been observed before. He developed techniques to observe fragile sites, which allowed him to specify critical DNA fragments on the fragile X chromosome and led him to identify fragile X syndrome as the most common cause of hereditary intellectual disability; in Australia it affects about 60 children each year. These findings allowed him to improve diagnostic tools and techniques, making identification of carriers more reliable and ultimately improving prenatal diagnosis.^{[3][6][7][4][5]}

As part of the Human Genome Project, his group mapped much of chromosome 16 and positional cloning of genes on this chromosome.^[8]

In 1998, Sutherland and Associate Professor Eric Haan discovered Sutherland–Haan Syndrome, which is another genetic disease that causes intellectual and physical problems among males. In 2004, they identified the specific genetic sequences that cause the condition. The discovery means that future generations who are at risk will be able to know if they are carriers and to test in utero for the disease.^[9]

The proposal of prenatal testing to diagnose genetic diseases has sometimes been controversial for Sutherland, because it raises the question of what to do if problems are detected.^[10]

Service to professional organisations

Sutherland was the president of the Human Genome Organization (HUGO) from 1996 to 1997,^[11] and he was involved in establishing the professional body in 1977, which grew into the Human Genetics Society of Australasia, and he served as its president from 1989 to 1991.^{[3] [12] [13] [14][8][15]}

Recognition

In the 1998 Australia Day Honours, Sutherland was appointed a Companion of the Order of Australia (AC) for service to science^[16][17] and in 2001, he was awarded a Centenary Medal.^[18]

Other significant awards include:

• 1983 - Fulbright Senior Scholar^{[4][better source needed]}
• 1996 - Julian Wells Lecture and medal, Australian Genome Conference Board 1996^[3]
• 1996 - Orator, Errol Solomon Meyers Memorial Lecture, The University of Queensland Medical Society^[19]
• 1998 - Australia Prize (later renamed the Prime Minister's Prize) for Science (joint winner with three others in the field of genetics)^[20][5]
• 2001 - Macfarlane Burnet Medal and Lecture, Australian Academy of Science^[3][21]
• 2001 - Ramaciotti Medal for Excellence in Biomedical Research^[7][6]
• 2004 - Included in "The Magnificent Seventeen, Giants of Australian research" having the most highly cited papers across all fields^[22]
• 2013 - Honorary Doctor of Medicine awarded by the University of Adelaide^[23]
• 2013 - The Australian National Health and Medical Research Council named him an "all-time high achiever"^[24][25]

Since 1994 he has been an Honorary Fellow of the Royal College of Pathologists of Australasia.^[3] Professional society fellowships include the Royal Society of London (1996)^[24] and the Australian Academy of Science (1997).^[8] In 2005, the Human Genetics Society of Australasia introduced the annual "Sutherland Lecture" in his honour, allowing outstanding mid-career researchers to showcase their work.^[24][26]

Publications

Journal articles

Scopus lists 458 documents by Sutherland, and calculates his h-index as 83.^[27]

Books

• Sutherland, Grant R.; Hecht, Frederick (1985). Fragile sites on human chromosomes. New York: Oxford University Press. ISBN 9780195035421.
• Gécz, Jozef; Sutherland, Grant R., eds. (2003). Nucleotide and protein expansions and human disease. Basel: Karger. ISBN 3-8055-7621-8.
• Gardner, R. J. M.; Sutherland, G. R. (1989). Chromosome abnormalities and genetic counseling (First ed.). New York: Oxford University Press. ISBN 0-19-504932-2.
• Gardner, R. J. M.; Sutherland, G. R. (1996). Chromosome abnormalities and genetic counseling (Second ed.). New York: Oxford University Press. ISBN 0-19-510615-6.
• Gardner, R. J. M.; Sutherland, G. R. (2004). Chromosome abnormalities and genetic counseling (Third ed.). New York: Oxford University Press. ISBN 0-19-514960-2.
• Gardner, R. J. McKinlay; Sutherland, Grant R.; Shaffer, Lisa G. (2012). Chromosome abnormalities and genetic counseling (Fourth ed.). Oxford: Oxford University Press. ISBN 9780195375336.

References

1. Harper, Peter (7 August 2006). "Interview with Professor Grant Sutherland" (PDF). genmedhist.eshg.org. Genetics and Medicine Historical Network. Retrieved 22 January 2022.
2. Sutherland, Grant Robert (1984). Studies in human genetics and cytogenetics (Thesis).
3. Sutherland, Grant Robert, (FAA, FRS) (1945-). Extract from Encyclopedia of Australian Science (2008). In Trove. Retrieved October 2, 2021, from https://nla.gov.au/nla.party-509081
4. "Emeritus Faculty". Robinson Research Institute | University of Adelaide. Retrieved 23 January 2022.
5. Ewing, Tania (1 May 1998). "Gene genius takes prize". The Age. Melbourne, Australia. p. 15.
6. "Research honour for scientist at WCH". The Advertiser. Adelaide, South Australia. 13 November 2001. p. 3.
7. "Awards and Recipients". www.perpetual.com.au. The Ramaciotti Foundations. Retrieved 22 January 2022.
8. "Grant Sutherland". www.science.org.au. Australian Academy of Science. Retrieved 22 January 2022.
9. "Adelaide team's rare gene discovery". Advertiser. Adelaide, South Australia. 21 January 2004. p. 11.
10. "Professor attacked". Daily Telegraph. Sydney, New South Wales. 22 February 2001. p. 10.
11. "HUGO Past Presidents". Human Genome Organization (HUGO) International Ltd. Retrieved 22 January 2022.
12. "Findings from G.R. Sutherland and co-researchers advance knowledge in genetics". Genomics & Genetics Weekly: 58. 19 September 2008. ISSN 1531-6467.
13. Sutherland GR (2008). "The history and development of the Human Genetics Society of Australasia" (PDF). Twin Res Hum Genet. 6 (4). Adelaide: 363–367. doi:10.1375/twin.11.4.363. PMID 18637737. S2CID 32531881. Archived from the original (PDF) on 18 March 2012. Retrieved 20 January 2022.
14. "Past Presidents, Human Genetics Society of Australasia". HGSA. Retrieved 26 September 2021.
15. University of Adelaide. "Citation for the Degree of Doctor of Medicine (honoris causa)" (PDF). Retrieved 2 October 2021.
16. "Professor Grant Robert SUTHERLAND". honours.pmc.gov.au. Australian Honours Search Facility: Australian Government: Department of the Prime Minister and Cabinet. Retrieved 14 January 2022. for service to science in the field of human genetics research and to the human genome project and, in particular, for his contribution to the discovery of the importance of 'fragile chromosomes' in the field of inherited diseases.
17. Miller, Claire (26 January 1998). "Six people were named Companions of the Order of Australia (AC) in the Australia Day Honours including geneticist Professor Grant Sutherland and Major General William Brian James, former national president of the Returned and Services League of Australia (RSL)". The Age. pp. 8–9.
18. "Professor Grant Robert SUTHERLAND". honours.pmc.gov.au. Australian Honours Search Facility: Australian Government: Department of the Prime Minister and Cabinet. Retrieved 14 January 2022. For service to Australian society and science in human genetics and genomes
19. UQMS. "E.S. Meyers Memorial Lecture". Retrieved 16 April 2022.
20. Pockley, Peter (1 May 1998). "The Australia Prize for Science for 1998, worth $300,000, was shared by four scientists working in the genetics field, three of them Australian--Professors Suzanne Cory, Grant Sutherland and Elizabeth Blackburn". The Australian. p. 15. for his work in identifying the fragile-X chromosome involved in mental retardation
21. "Macfarlane Burnet Medal and Lecture". Australian Academy of Science. Retrieved 23 January 2022.
22. Bates, Edna. "Uni researcher in Magnificent 17". www.adelaide.edu.au. Retrieved 22 January 2022.
23. "Citation for the Degree of Doctor of Medicine (honoris causa)" (PDF). University of Adelaide. 25 September 2013. Retrieved 30 January 2022.
24. "Grant Sutherland". royalsociety.org. Royal Society. Retrieved 22 January 2022.
25. "High Achievers in Australian Health and Medical Research". National Health and Medical Research Council. Archived from the original on 13 October 2014. Retrieved 22 January 2022.
26. "Orations and Sutherland Lecturers". www.hgsa.org.au. Human Genetics Society of Australasia. Retrieved 22 January 2022.
27. "Scopus preview - Sutherland, Grant R. - Author details". www.scopus.com. Retrieved 18 January 2022.

Further reading

• Fragile sites on human chromosomes- a personal odyssey - Grant R Sutherland's narrative on his retirement, containing much more technical information than this present article.