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John Mulley | |
|---|---|
 Mulley in 2025 | |
| Born | John Charles Mulley |
| Occupation | Geneticist |
| Known for | Identification of genes related to epilepsy and intellectual disability |
| Academic background | |
| Education | |
| Thesis | Genetic marker studies in humans (1985) |
| Academic work | |
| Discipline | Medical genetics |
| Institutions | University of Adelaide |
John Charles Mulley is an Australian medical geneticist who conducted research into the genetics behind epilepsy and intellectual disability.
After serving in the Australian Army, Mulley began his zoology studies and later genetics. He obtained his Bachelor and Master of Science degrees from the University of Sydney. Mulley has researched the population genetics of Drosophila since 1970, and has since shifted to the genetics of commercial fishes and crustaceans. He subsequently joined the University of Adelaide in 1978 to conduct research on medical genetics and earned a PhD degree in 1985.
During the 1990s, Mulley led a research team into epilepsy genetics. Together with Samuel Berkovic, Ingrid Scheffer and others, they found that chromosome 20 was linked to a type of epilepsy in 1995. Afterwards, he looked into the relations of genetic mutations, epilepsy and intellectual disability. In 2008, Mulley gave the Human Genetics Society of Australasia's Sutherland Lecture. In 2011, he was awarded the Officer of the Order of Australia (AO) in acknowledgement of his human genetics research, especially epilepsy and intellectual disability research.
Early life and education
[edit]John Charles Mulley[1] studied zoology before joining the Australian Army. After being discharged, he decided to study genetics because of the job opportunities.[2] Afterwards, Mulley graduated with a Bachelor of Science and a Master of Science in agriculture from the University of Sydney.[3]
By 1970, Mulley began researching the population genetics of Drosophila. Then, he investigated commercial fish and crustaceans genetics, including prawns and carp. In 1975, he began research on commercial prawns, undertaking fieldwork aboard prawn trawlers in northern Australia. His early electrophoresis research established an improvised laboratory, where he examined more than 5,000 flies and recorded approximately 112,000 electrophoretic phenotypes.[4]
In 1978, Mulley enrolled at the University of Adelaide after coming across an science advertisement about establishing and operating a genetic markers laboratory at the Adelaide Children's Hospital. Following this, he researched medical genetics through the university's Department of Paediatrics.[5] In 1985, he completed a PhD thesis at the University of Adelaide.[3]
Career
[edit]In the mid-1990s, neurologist Samuel Berkovic contacted the University of Adelaide research group studying the genetics of epilepsy, which was headed by Mulley.[6] In 1994, Jozef Gécz joined the laboratories of Mulley and Grant Sutherland as a postdoctoral fellow.[7]
In 1995, Mulley, Berkovic, Ingrid Scheffer and Sutherland, along with others from the university, discovered that there was evidence connecting a type of epilepsy to a part of chromosome 20. This discovery was made through the study of an extended South Australian family consisting of 27 people with epilepsy.[8] Further investigations revealed mutations in the gene encoding for ion channels in epileptic patients.[7] Furthermore, Mulley investigated the genetic causes of epilepsy through mutations in genes encoding ion channels, which are responsible for conducting electrical impulses in the brain. He had to obtain medical records and blood samples from the families being studied.[9] The findings eventually improved the diagnosis of some epilepsy types and understanding of their inheritance.[9]
In 2003, Mulley and his colleagues were listed as inventors in an Australian patent application regarding mutations in ion-channel genes. In the following year, the application was internationally filed. Meanwhile, the counterpart patent application in the United States was published in 2009.[10] By 2011, Mulley has made contributions that have led to over 250 scientific publications.[9]
Honours and awards
[edit]Mulley was awarded the Excellence in Research for Public Good Benefit Award at the South Australian Science Excellence Awards in 2008.[11] During the same year, he gave a lecture at the Human Genetics Society of Australasia's Sutherland Lecture called Forty Years from Markers to Genes.[12] Following this, in recognition of his contribution to the field of medical science as a leading researcher in human genetics especially in identifying genes responsible for epilepsy and intellectual disability, Mulley was appointed an Officer of the Order of Australia (AO) in the 2011 Queen's Birthday Honours.[1][9]
Selected publications
[edit]- Sutherland, Grant R.; Gedeon, Agi; Kornman, Louise; Donnelly, Andrew; Byard, Roger W.; Mulley, John C.; Kremer, Eric; Lynch, Michael; Pritchard, Melanie; Yu, Sui; Richards, Robert I. (12 December 1991). "Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence". New England Journal of Medicine. 325 (24): 1720–1722. doi:10.1056/NEJM199112123252407.
- Steinlein, Ortrud K.; Mulley, John C.; Propping, Peter; Wallace, Robyn H.; Phillips, Hilary A.; Sutherland, Grant R.; Scheffer, Ingrid E.; Berkovic, Samuel F. (1 October 1995). "A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy". Nature Genetics. 11: 201–203. doi:10.1038/ng1095-201.
- Wallace, Robyn H.; Wang, Dao W.; Singh, Rita; Scheffer, Ingrid E.; George, Alfred L.; Phillips, Hilary A.; Saar, Kathrin; Reis, Andre; Johnson, Eric W.; Sutherland, Grant R.; Berkovic, Samuel F.; Mulley, John C. (August 1998). "Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B". Nature Genetics. 19 (4): 366–370. doi:10.1038/1252.
- Wallace, Robyn H.; Marini, Carla; Petrou, Steven; Harkin, Louise A.; Bowser, David N.; Panchal, Rekha G.; Williams, David A.; Sutherland, Grant R.; Mulley, John C.; Scheffer, Ingrid E.; Berkovic, Samuel F. (May 2001). "Mutant GABA_A receptor γ2-subunit in childhood absence epilepsy and febrile seizures". Nature Genetics. 28: 49–52. doi:10.1038/ng0501-49.
- Mulley, John C.; Scheffer, Ingrid E.; Petrou, Steven; Dibbens, Leanne M.; Berkovic, Samuel F.; Harkin, Louise A. (May 2005). "SCN1A mutations and epilepsy". Human Mutation. 25 (6): 535–542. doi:10.1002/humu.20178.
- Mulley, John C.; Scheffer, Ingrid E.; Harkin, Louise A.; Berkovic, Samuel F.; Dibbens, Leanne M. (2005). "Susceptibility genes for complex epilepsy". Human Molecular Genetics. 14 (Suppl 2): R243–R249. doi:10.1093/hmg/ddi355.
- Dibbens, Leanne M.; Tarpey, Patrick S.; Hynes, Kim; Bayly, Marta A.; et al. (May 2008). "X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment". Nature Genetics. 40 (6): 776–781. doi:10.1038/ng.149.
- Bahlo, Mark A.; Jolly, Lachlan; Afawi, Zaid; Gardner, Alison E.; Oliver, Karen L.; Tan, Stanley; Coffey, Amy; Mulley, John C.; Dibbens, Leanne M.; Simri, Walid; Shalata, Adel; Kivity, Sara; Jackson, Graeme D.; Berkovic, Samuel F.; Gecz, Jozef (10 September 2010). "A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24". American Journal of Human Genetics. 87 (3): 371–375. doi:10.1016/j.ajhg.2010.08.001.
- Mefford, Heather C.; Mulley, John C. (5 October 2010). "Genetically complex epilepsies, copy number variants and syndrome constellations". Genome Medicine. 2 (10): 71. doi:10.1186/gm192. PMC 2988446. PMID 20923578.
- Mulley, John C.; Dibbens, Leanne M. (2011). "Genetic variations and associated pathophysiology in the management of epilepsy". Application of Clinical Genetics. 4: 113–125. doi:10.2147/TACG.S7407.
- Mulley, John C.; Mefford, Heather C. (March 2011). "Epilepsy and the new cytogenetics". Epilepsia. 52 (3): 423–432. doi:10.1111/j.1528-1167.2010.02932.x.
- Mulley, John C.; Scheffer, Ingrid E.; Desai, Tarishi; Bayly, Marta A.; Grinton, Bronwyn E.; Vears, Danya F.; Berkovic, Samuel F.; Dibbens, Leanne M. (October 2011). "Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes". Epilepsia. 52 (10): e139–e142. doi:10.1111/j.1528-1167.2011.03188.x. PMID 21777232.
References
[edit]- 1 2 "The Queen's Birthday 2011 Honours" (PDF). Commonwealth of Australia Gazette (S92). Commonwealth of Australia: 1. 13 June 2011. ISSN 1032-2345. Archived from the original (PDF) on 15 April 2026.
- ↑ Mulley 2008, p. 368.
- 1 2 Mulley, John Charles (1985). Genetic marker studies in humans. Department of Paediatrics (PhD thesis). University of Adelaide. Retrieved 15 September 2026.
- ↑ Mulley 2008, p. 369.
- ↑ Mulley 2008, p. 370.
- ↑ "Interview with Professor Grant Sutherland". History of Medical Genetics. European Society of Human Genetics. 7 August 2006. p. 14. Archived from the original (PDF) on 15 September 2026. Retrieved 15 September 2026.
- 1 2 "Prof Jozef Gecz". Adelaide University. Archived from the original on 7 June 2026. Retrieved 15 September 2026.
- ↑ "The genetics of epilepsy: bringing hope to families: 2014 Prime Minister's Prize for Science". Science in Public. 29 October 2014. Archived from the original on 14 May 2026. Retrieved 15 September 2026.
- 1 2 3 4 MorganABC, Branwen (13 June 2011). "Epilepsy geneticist's contribution recognised". ABC Science. Archived from the original on 15 September 2026. Retrieved 15 September 2026.
- ↑ US 8129142, Mulley, John Charles; Harkin, Louise Anne & Dibbens, Leanne Michelle et al., "Mutations in ion channels", published 6 March 2012, assigned to Bionomics Limited
- ↑ The University of Adelaide Annual Report 2008: Part One, Annual Review (PDF) (Report). University of Adelaide. 2008. p. 36. Archived from the original (PDF) on 23 January 2026. Retrieved 15 September 2026.
- ↑ Sutherland, Grant R. (August 2008). "The History and Development of the Human Genetics Society of Australasia". Twin Research and Human Genetics. 11 (4): 367. doi:10.1375/twin.11.4.363.
- Mulley, John C. (August 2008). "Forty Years From Markers to Genes" (PDF). Twin Research and Human Genetics. 11 (4): 368–383. doi:10.1375/twin.11.4.368.
External links
[edit]
Category:Year of birth missing (living people) Category:Place of birth missing (living people) Category:Living people Category:Australian geneticists Category:Australian medical researchers Category:Medical geneticists Category:University of Adelaide alumni Category:University of Sydney alumni Category:Officers of the Order of Australia Category:Australian Army personnel Category:20th-century Australian scientists Category:21st-century Australian scientists