Grant Robert Sutherland

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]

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]

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

• 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.