Dr Elena Tucker, geneticist, Murdoch Children’s Research Institute, Melbourne

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01 September 2014

Solving genetic disease mysteries

Dr Elena Tucker has brought peace of mind to families affected by rare energy disorders. She’s found genes responsible for some of these diseases.

For the thousands of families affected by these rare disorders Elena’s work provides an understanding of the causes and opens a path to management and to potential treatments one day. And the techniques she’s developing underpin the broader development of personalised medicine.

Her 2014 L’Oréal For Women in Science Fellowship, allowed her to look at hundreds of individual genomes to determine the causes of sex-determination disorders.



2011 PhD (medical genomics), The University of Melbourne/Murdoch Childrens Research Institute, Melbourne
2006 Bachelor of Science (Honours) (genetics), The University of Melbourne/St Vincent’s Institute, Melbourne

 Career highlights, awards, fellowships, grants

2013–present Postdoctoral Research Fellow, Investigating the molecular basis of disorders of sex development. Peter Doherty – Australian Biomedical Fellowship, Murdoch Childrens Research Institute
2013 Invited presentation, Victorian Institute of Forensic Medicine Seminar, Melbourne
2012 Commended for work into mitochondrial disease, Premier’s Commendation for Health and Medical Research
2012 Victorian Young Tall Poppy Science Award, Australian Institute of Policy and Science
2012 Invited presentation, AussieMit Conference, Melbourne
2012 Invited presentation, Gordon Research Conference, Boston, USA
2011–2012 Postdoctoral Research Fellow, Investigating the molecular basis of mitochondrial disease, Murdoch Childrens Research Institute
2011 Invited presentation, Institute of Neurology Besta, Italy
2011 New Investigator Award, Human Genetic Society of Australasia
2011 Kirby Travel Award, Human Genetic Society of Australasia
2009 One month collaborative residency, Broad Institute of Harvard and MIT, Boston, USA
2008 David Danks Scholarship, Murdoch Childrens Research Institute
2007 Research Assistant, Investigating the molecular basis of Parkinson’s disease, Howard Florey Institute

Top five publications

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 (2010) 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. (Impact factor 35.209, 146 citations)

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 and Mootha VK (2011) Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation, Cell Metabolism 14(3): 428–434. (Impact factor 17.551, 29 citations)

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 and Thorburn DR (2013) Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression, PLOS Genetics 9(12): e1004034. (Impact factor 9.44, 0 citations)

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 and Mootha VK (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing, Science Translational Medicine 4(118): 118ra10. (Impact factor 10.757, 99 citations)

Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT and Thorburn DT (2011) Next Generation Sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation, Human Mutation 33(2):411–418. (Impact factor 5.213, 19 citations)

 Click image for hi-res. Photo: Dr Elena Tucker (credit: L’Oréal Australia/sdpmedia.com.au)

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