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Contact Details

  Street address:
Level 11, KGV Building
Missenden Road
Postal address:
Post Office Box M30
Missenden Road NSW 2050

Phone: (02) 9515-6111
Fax: (02) 9515-9610

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Medical Genomics

Our Research

Prosopagnosia (M Hinchcliffe, Huong Le, R Trent in collaboration with the Macquarie Centre for Cognitive Science (MACCS) and University College of London (UCL) Department of Psychology. We have been examining individuals with congenital prosopagnosia, otherwise known as 'face-blindness' - a condition where individuals have significant difficulty recognising people by their faces alone. Sufferers frequently rely on other means to identify people such as voice, gait, clothing and hairstyle and usually have difficulty meeting acquaintances out of usual context. The research has been using next generation DNA sequencing, in depth bioinformatic analysis and genetic segregation studies. The aim of the study is to discover a gene that may be causally linked to the condition. Congenital prosopagnosia is surprisingly under-recognised in the medical community as it affects approximately 2% of the population with no racial bias. About half of the participants involved have other family members in the study for genetic linkage analysis. Prosopagnosia appears to have an autosomal dominant inheritance pattern.

Pharmacogenetics and pharmacogenomics (N Luquin, R Trent and collaborators in Department of Drug and Alcohol, RPAH) Defining the Clinical Role of Topiramate for the treatment of Alcohol Dependence in Australia The medical, psychological and social sequelae of alcohol dependence are recognised as major public health concerns. Australia-wide, alcohol misuse accounts for an annual economic burden estaimated at $30 billion and it is now the major cause of drug-related death. Current approaches to treatment have limited efficacy. A front line of treatment development has been pharmacotherapies. This study examines a novel pharmacotherapy, topiramate, in the Australian context. A double-blind randomised controlled trial to examine the clinical and cost effectiveness of topiramate versus an active control (naltrexone), stratified according to predictive polymorphisms, in an attempt to improve treatment outcomes for alcohol dependence. This is the first prospective pharmacogenetic trial of topiramate world-wide and the first adequately powered trial of topiramate versus an active control (naltrexone). This trial has the potential to provide more effective treatment for alcohol use disorders, to define those most likely to respond and to lessen the impact of the common comorbidities. The project will test the potential transformation to personalised medicine and thus change the way we treat alcohol problems.

Cancer Genetics (Bing Yu with collaborators Dept of Anatomical Pathology RPAH) Development of a somatic cell cancer DNA testing approach to melanoma, lung and bowel cancer has developed to identify the most appropriate way to deliver this service both in terms of distinct gene analysis as well as a broader approach using next generation DNA sequencing.

Neurogenetics of motor neuron disease (Bing Yu with collaborator Prof Roger Pamphlett, Pathology, University of Sydney). This work represents a long standing interest in motor neuron disease to look at the molecular genetics pathways that may be involved in causation. Current interest is in bioinformatics analysis of whole genome and whole exome analysis.

Clinical genetics research (Dr Jason Pinner, Dr Lisa Ewans, Mr Ron Fleischer, Ms Laura Molloy, Ms Catherine Spinks)

  1. Evaluation of implementation of new prenatal screening tools, non-invasive prenatal testing (NIPT), in collaboration the fetal medicine unit at RPA Hospital
  2. Ongoing research into familial dyslipidaemia's including familial hypercholesterolaemia in collaboration with the RPAH Department of Clinical Chemistry
  3. Evaluated current and future training requirements for genetic counselling workforce with the implementation of genomic testing and developed clinical pathways for the integration of genomic testing into routine genetic practice.

Key Achievements

  • The conducting of a highly successful inaugural Genomic Counselling for Genetic Counsellors (GC4GC) workshop.
  • Work in prosopagnosia is progressing well with some key publications expected in 2016.

Research Staff

  • Dr M Hinchcliffe, molecular genetics researcher
  • Dr Huong Le, molecular genetics researcher
  • Prof R Trent, molecular genetics researcher
  • Dr N Luquin, molecular genetics researcher
  • A/Prof Bing Yu, molecular genetics researcher
  • Dr Jason Pinner, clinical genetics researcher
  • Dr Lisa Ewans, clinical genetics researcher
  • Mr Ron Fleischer, clinical genetics researcher
  • Ms Laura Molloy, clinical genetics researcher

Higher Degree Students:


  • Dr Marcus Hinchcliffe, Molecular genetics of prosopagnosia

Publications and Presentations

Publication Details:
  1. Luk PP, Yu B, Ng CC, Mercorella B, Selinger C, Lum T, Kao S, O'Toole SA, Cooper WA. BRAF mutations in non-small cell lung cancer. Translational Lung Cancer Research 2015; 4: 142-148.
  2. Steinberg KM, Yu B, Koboldt D, Mardis ER, Pamphlett R. Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS. Scientific Reports 2015; 5: 9124.
  3. Yu B, O'Toole SA, Trent RJ. Somatic DNA mutation analysis in targeted therapy of solid tumours. Translational Pediatrics 2015; 4: 125-138.
  4. Wang S, Yu B, Ng CC, Mercorella B, Selinger CI, O'Toole SA, Cooper WA. The suitability of small biopsy and cytology specimens for EGFR and other mutation testing in non-small cell lung cancer. Translational Lung Cancer Research (Transl Lung Cancer Res) 2015; 4:119-125.
  5. Luk PP, Selinger CI, Eviston TJ, Lum T, Yu B, O'Toole SA, Clark JR, Gupta R. Mammary analogue secretory carcinoma: an evaluation of its clinicopathological and genetic characteristics. Pathology 2015; 47:659-666.
  6. Li BT, Lee A, O'Toole S, Cooper W, Yu B, Chaft JC, Arcila ME, Kris MG, Pavalakis N. HER2 insertion YVMA mutant lung cancer: Long natural history and response to afatinib. Lung Cancer 2015; 90:617-619.
  7. Steinberg KM, Nicholas TJ, Koboldt D, Yu B, Mardis ER, Pamphlett R. Whole genome analyses reveal no pathologenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2015; 16: 385-392.

Book Chapters:
  1. Trent RJ. Direct to consumer DNA genetic and genomic testing. In: Movement Disorder Genetics. Eds J Bras, SA Schneider. Springer 2015, pp463-478.


National and International:

  1. Yu B, Kavanagh C, Wei J, Kraitsek S, Selinger C, Cooper W, Trent R, Kench J, O'Toole S. Patterns of driver mutations in routine multigene diagnostic profiling in 1865 patients. Clinical Oncology Society of Australia Annual Scientific Meeting 2015, November 2015, Hobart (Australia).
  2. Yu B, O'Toole S. Advantages of parallel multigene analysis in cancer somatic mutation testing. Sydney Catalyst International Translational Cancer Research Symposium 2015, July 2015, Sydney (Australia).
  3. Anderson LA, Yu B, Sellinger T, Carter J, O'Toole S, Beale P. Oncogene mutation testing in low grade serous adenocarcinomas of ovary and borderline ovarian tumours in an Australian tertiary care referral setting. Australia New Zealand Gynaecological Oncology Group Annual Scientific Meeting 2015, March 2015, Gold Coast (Australia).

Research Grants

NHMRC CIs: Prof Paul Haber, Dr Kirsten Morley, Prof Maree Teesson, Prof Henry Kranzler, Dr Marian Shanahan, Prof Ron Trent, A/Prof Andrew Baillie, Dr Natasha Luquin

Defining the Clinical Role of Topiramate for the treatment of Alcohol Dependence in Australia  $ 718,000 2016-2019

Contact details for department

Head of Department: Professor Ronald Trent

Department/Unit: Medical Genomics
RPA Hospital
Missenden Road
Camperdown NSW 2050
Telephone: (02) 9515 7514
Facsimile: (02) 9515 6133
Web: http://www.slhd.nsw.gov.au/research/
Email: ronald.trent@sydney.edu.au