Grant Robert Sutherland

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Grant Robert Sutherland

Grant Robert Sutherland.jpg
Born (1945-06-02) 2 June 1945 (age 78)
Bairnsdale, Australia
Alma mater University of Melbourne
(BSc), (MSc);
University of Edinburgh
(PhD), (D.Sc.)
Known forDiscovery 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
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 celebrated 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.

Contents

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, so 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:

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

Related Research Articles

<span class="mw-page-title-main">Chromosome</span> DNA molecule containing genetic material of a cell

A chromosome is a package of DNA with part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome forming packaging proteins; in eukaryotic cells the most important of these proteins are the histones. These proteins, aided by chaperone proteins, bind to and condense the DNA molecule to maintain its integrity. These chromosomes display a complex three-dimensional structure, which plays a significant role in transcriptional regulation.

<span class="mw-page-title-main">Cytogenetics</span> Branch of genetics

Cytogenetics is essentially a branch of genetics, but is also a part of cell biology/cytology, that is concerned with how the chromosomes relate to cell behaviour, particularly to their behaviour during mitosis and meiosis. Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH).

<span class="mw-page-title-main">Chromosomal translocation</span> Phenomenon that results in unusual rearrangement of chromosomes

In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously.

<span class="mw-page-title-main">Human genetics</span> Study of inheritance as it occurs in human beings

Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.

<span class="mw-page-title-main">Medical genetics</span> Medicine focused on hereditary disorders

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

<span class="mw-page-title-main">Genetic analysis</span>

Genetic analysis is the overall process of studying and researching in fields of science that involve genetics and molecular biology. There are a number of applications that are developed from this research, and these are also considered parts of the process. The base system of analysis revolves around general genetics. Basic studies include identification of genes and inherited disorders. This research has been conducted for centuries on both a large-scale physical observation basis and on a more microscopic scale. Genetic analysis can be used generally to describe methods both used in and resulting from the sciences of genetics and molecular biology, or to applications resulting from this research.

A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing.

<span class="mw-page-title-main">Molecular cytogenetics</span>

Molecular cytogenetics combines two disciplines, molecular biology and cytogenetics, and involves the analysis of chromosome structure to help distinguish normal and cancer-causing cells. Human cytogenetics began in 1956 when it was discovered that normal human cells contain 46 chromosomes. However, the first microscopic observations of chromosomes were reported by Arnold, Flemming, and Hansemann in the late 1800s. Their work was ignored for decades until the actual chromosome number in humans was discovered as 46. In 1879, Arnold examined sarcoma and carcinoma cells having very large nuclei. Today, the study of molecular cytogenetics can be useful in diagnosing and treating various malignancies such as hematological malignancies, brain tumors, and other precursors of cancer. The field is overall focused on studying the evolution of chromosomes, more specifically the number, structure, function, and origin of chromosome abnormalities. It includes a series of techniques referred to as fluorescence in situ hybridization, or FISH, in which DNA probes are labeled with different colored fluorescent tags to visualize one or more specific regions of the genome. Introduced in the 1980s, FISH uses probes with complementary base sequences to locate the presence or absence of the specific DNA regions. FISH can either be performed as a direct approach to metaphase chromosomes or interphase nuclei. Alternatively, an indirect approach can be taken in which the entire genome can be assessed for copy number changes using virtual karyotyping. Virtual karyotypes are generated from arrays made of thousands to millions of probes, and computational tools are used to recreate the genome in silico.

R. Ellen Magenis was an American pediatrician, medical geneticist and cytogeneticist.

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The Atlas of Genetics and Cytogenetics in Oncology and Haematology, created in 1997 by Jean-Loup Huret is a collection of resources on genes, chromosomes anomalies, leukemias, solid tumours, and cancer-prone diseases. The project is accessible through Internet and is made of encyclopedic-style files, as well as traditional overviews, links towards websites and databases devoted to cancer and/or genetics, case reports in haematology. It also encompasses teaching items in various languages.

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<span class="mw-page-title-main">International System for Human Cytogenomic Nomenclature</span>

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Barbara Ruben Migeon was an American geneticist who was a professor at the Johns Hopkins University Institute of Genetic Medicine. She founded the Johns Hopkins program in Human Genetics and Molecular Biology. Migeon is the author of Females are Mosaics: X inactivation and sex differences in disease. She was awarded the American College of Medical Genetics and Genomics Dimes/Colonel Harland D. Sanders Lifetime Achievement Award in 2016.

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References

  1. 1 2 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".{{cite journal}}: Cite journal requires |journal= (help)
  3. 1 2 3 4 5 6 7 8 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. 1 2 3 "Emeritus Faculty". Robinson Research Institute | University of Adelaide. Retrieved 23 January 2022.
  5. 1 2 3 Ewing, Tania (1 May 1998). "Gene genius takes prize". The Age. Melbourne, Australia. p. 15.
  6. 1 2 "Research honour for scientist at WCH". The Advertiser. Adelaide, South Australia. 13 November 2001. p. 3.
  7. 1 2 "Awards and Recipients". www.perpetual.com.au. The Ramaciotti Foundations. Retrieved 22 January 2022.
  8. 1 2 3 "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. Adelaide. 6 (4): 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. 1 2 3 "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