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Dr Elena Tucker
Dr Tucker has been studying the genetic basis of rare diseases for over 10 years. Her PhD was completed in 2011, and focused on using state-of-the art genomic approaches to improve the diagnosis and management of patients with mitochondrial disease. She now works within the Reproductive Development group, where she focuses on the genetics of ovarian dysfunction, in particular premature ovarian insufficiency. She has 20 manuscripts including 15 research articles (8 first author), 4 first-author reviews, and a Q&A in Nature. This includes first/co-first authorship in top journals such as Nature Genetics, Cell Metabolism and Endocrine Reviews. Her co-authored manuscripts have received high citation (998, Scopus 2019) as well as academic acclaim such as nomination by the Faculty of 1000, and recognition as research highlights by Nature and Nature Reviews Genetics.
Honorary Fellow, Department of Paediatrics, University of Melbourne
2018. Women's Wellbeing Symposium Travel Grant ($500) The Women's Wellbeing Organizing Committee, New Zealand
2018. MCRI Catalyst Travel Grant ($3000) Murdoch Childrens Research Institute
2017. Named in Who's Who of Australian Women Australian Associated Press
2016. International Rising Talent Award (EU15,000) L'Oreal-UNESCO For Women in Science
2015. Genomics Grant ($15,000) Cell Biology Theme, MCRI
2015. Selected for the Australian Delegation at the Lindau Nobel Laureate Meeting ($3,500) Australian Academy of Sciences
2014. L'Oreal For Women In Science Fellowship ($25,000) L'Oreal New Zealand and Australia
2013 - current. Peter Doherty – Australian Biomedical Fellowship ($299,564) National Health and Medical Research Council (NHMRC)
2012. Victorian Young Tall Poppy Award Victorian Government
2012. Premier's Commendation for Health and Medical Research ($8,000) Victorian Government
2012. Poster Prize ($500) Human Genome Meeting
2011. HGSA New Investigator Award ($500) Human Genetics Society of Australasia
2011. HGSA Victorian Student Travel Award ($500) Human Genetics Society of Australasia
2011. Kirby Travel Award ($500) Human Genetics Society of Australasia
2010. Moonee Valley Foundation Grant ($2,500) Moonee Valley Council
2010. Nutricia ASIEM Travel Grant ($2,000) Australasian Society of Inborn Errors of Metabolism
2009. Melbourne Abroad Travelling Scholarship ($1,500) University of Melbourne
2009. First prize at Postgraduate Student Presentation Day ($100) Murdoch Childrens Research Institute
2008. David Danks Scholarship ($17,500) Murdoch Childrens Research Institute
2008. Australian Postgraduate Award ($70,024.50) University of Melbourne
2006. Melbourne Honours Scholarship ($2,000) University of Melbourne
2006. St. Vincent's Foundation Scholarship ($5,000) Sponsor: BNP Paribas
2006, 2005, 2002. Dean's Honours List for Science University of Melbourne
2005. Dwight's Prize for Genetics ($1,000) University of Melbourne
2004. Dean's Honours List for Arts, Dean's Honours List for Science University of Melbourne
2001. Australian Student Prize ($2,000) Commonwealth Government
2001. Dean's Prize for BSc (Pre-vet) University of Melbourne
2001. Valedictorian/Dux Buckley Park Secondary College
Dr Elena Tucker’s research interest is primarily in ovarian biology. She uses genomic approaches to investigate the genetic basis of human ovarian disease. This includes the study of the largest well-described cohort of women with premature ovarian insufficiency (POI) (N>150). POI is defined as cessation of menstruation that is associated with elevated gonadotropins occurring before the age of 40. This condition affects as many as 1 in 100 women. Severe POI, affecting women under the age of 30, has an incidence of 1 in 1000 and can involve primary amenorrhea (failure to enter menarche) or cessation of menstruation in early adolescence. POI poses physical, mental and economic health burdens that are exacerbated by early POI onset. POI not only interferes with a woman’s reproductive potential, but is also associated with an increased risk of osteoporosis, mental health problems, cardiovascular disease, and earlier mortality.
This work aims to:
1) discover new genes that, when mutated, cause POI
2) determine the role of newly discovered genes in reproductive biology and,
3) improve the physical and/or psychological outcomes for affected individuals and their families
The significance of this work includes the ability to offer better treatment and counselling to affected individuals, and screening of family members to detect pre-symptomatic individuals that could benefit from early intervention such as cryopreservation of eggs and hormone-replacement therapy. The unbiased genomic approach means that genes never before suspected to have a role in ovarian function can be found to have role in POI pathogenesis. Discovering new “disease genes” improves understanding of the process of ovarian development and function which can then enable the development of therapeutics which are largely lacking for this condition.
Unravelling the genetic cause of Premature Ovarian Insufficiency
This project involves using the latest genomic approaches and data analysis methods to investigate the genetic basis of POI in a large cohort of girls and women. Functional validation of disease causation is achieved by methods such as western blotting, gene expression assays, qRT-PCR and immunofluorescence staining in control and patient cell lines.
Elucidating the role of novel genes in ovarian biology
Our cohort study has identified many new candidate genes involved in ovarian biology, that require in-depth analysis to determine how they influence reproductive potential. To elucidate the role of these new genes in ovarian biology, we plan to use model organisms such as the fly and mouse, as well as recently developed induced pluripotent stem-cell modelling to generate gonadal organoids to use as a human-specific disease model.
Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. TP63 truncating variants cause isolated premature ovarian insufficiency. Human Mutation. doi: 10.1002/humu.23744. [Epub ahead of print] (2019).
Tucker EJ, Grover SR, Robevska G, van den Bergen J, Hanna C, Sinclair AH. Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice. European Journal of Human Genetics. doi: 10.1038/s41431-018-0140-4 [Epub ahead of print] (2018)
Tucker EJ, Jaillard S, Sinclair AH. Genetics and Genomics of Primary Ovarian Insufficiency. Human Reproductive and Prenatal Genetics. Elsevier. (2018).
Jaillard S, Tucker EJ, Akloul L, Beaumont M, Domin M, Pasquier L, Jouve G, Odent S, Belaud-Rotureau M, Ravel C. 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency. Journal of Human Genetics. 63(5):691-698 (2018)
Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, et al., Thorburn DR, Spinazzola A. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain. 140(6):1595-1610 (2017)
Tucker EJ, Grover SR, Bachelot A, Touraine P, Sinclair AH. Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum. Endocr Rev. 37(6):609-635. (2016)
Blackburn EH, Tucker EJ. Q&A: End-game winner. Nature. 526(7574):S56-7 (2015)
Tucker EJ. The 21st Century Imitation Game. Australasian Science. May 2015.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, et al., Bahlo M, Thorburn DR. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. American Journal of Human Genetics. 94(2):209-22 (2014)
Tucker EJ, Sinclair AH. Mammalian Sex Determination. eLS. (2013)
*Tucker EJ, *Wanschers BF, *Szklarczyk R, *Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. PLOS Genetics. 9(12):e1004034 (2013)
Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Human Molecular Genetics. 22(22):4460-73 (2013)
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, DiMauro S, Thorburn DR, Mootha VK. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Science Translational Medicine. 4(118): 118ra10 (2012)
Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DT. Next Generation Sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Human Mutation. 33(2):411-418 (2011)
McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR, Ryan MT. Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. Journal of Molecular Biology. 414(3):413-426 (2011)
Boon WC, Petrovic-Duran K, White K, Tucker E, Albiston A, Manasseh R, Horne MK, Aumann TD. Acoustic microstreaming increases the efficiency of reverse transcription reactions comprising single-cell quantities of RNA. Biotechniques. 50(2):116-119 (2011)
*Tucker EJ, *Hershman SG, *Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, Mootha VK. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metabolism. 14(3):428-434 (2011)
Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. European Journal of Human Genetics. 19(7):769-775 (2011)
Tucker EJ, Calvo SE, Compton AG, Thorburn DR. The molecular genetics of human complex I deficiency. IUBMB Life. 63(9):669-677 (2011)
*Calvo SE, *Tucker EJ, *Compton AG, Kirby DM, Crawform G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK. High-throughput, pooled sequencing of a patient cohort reveals mutations in NUBPL and FOXRED1 that cause human complex I deficiency. Nature Genetics, 42(10):851-858 (2010)
Tucker EJ, Compton AG, Thorburn DR. Recent advances in the genetics of mitochondrial encephalopathies. Current Neurology and Neuroscience Reports. 10: 277-285 (2010)
Tucker EJ, O'Donnel K, Fuchsberger M, Hilton AA, Metcalf D, Grieg K, Simms NA, Quinn JM, Alexander WS, Hilton DJ, Kile BT, Tarlinton DM, Starr R. A novel mutation in the Nfkb2 gene generates an NFκB 'super repressor'. The Journal of Immunology, 179(11): 7514-7522 (2007)