Projects per year
In 1994 after returning from his ophthalmology fellowship training in the UK and USA, David Mackey set up the Glaucoma Inheritance Study in Tasmania (GIST). He recruited over 1,700 glaucoma cases and several thousand unaffected relatives were examined. Initial screening of the families assisted with identification of mutations in the MYOC gene as a cause of juvenile and adult onset open angle glaucoma. Extensive genotype phenotype correlations, along with penetrance and prevalence data, have allowed genetic counselling for family members: cascade genetic screening and predictive DNA testing are now widely accepted.
This work was crucial in underpinning the NHMRC Panel for the evidence-based medicine guidelines for glaucoma, for which he was a member of the Expert Working Committee (2009-2010), as well as development of National Association of Testing Authorities-accredited DNA testing for high-risk individuals. Myocilin testing is now routinely performed through the Australian and New Zealand Registry of Advanced Glaucoma. More recently the Australian population and glaucoma cohorts have contributed to the International Glaucoma Genetics Consortium (IGGC). This seminal consortium, in which he has a major leadership role, has resulted in major meta-analysis to identify further glaucoma genes. He is also an active committee member of the international Glaucoma Research Society and a member of the World Glaucoma Association consensus panel for Genetics in Childhood Glaucoma. He works with many international collaborators on glaucoma genetics in North America, Europe and Asia and has 109 papers indexed as “glaucoma genetics” on PubMed.
He has initiated and been a major driver for evaluating a cascade genetic testing program for relatives of mutation carriers, that has now shown that this leads to earlier diagnosis with better outcomes for those carriers detected by cascade genetic testing compared with those presenting through standard clinical pathways. Based on published outcomes, family members of MYOC carriers can now access treatment before vision is lost, which has generated considerable interest in other countries.
In 2000 he set up the Twins Eye Study in Tasmania and Brisbane, recruiting over 1000 sets of twins and 200 siblings to investigate the endophenotypes associated with glaucoma and myopia. His group has established the heritability for many ophthalmic traits and investigated genetic as well as environmental factors. In 2009 he led the ophthalmic assessment of the Western Australian Pregnancy Cohort (Raine) Study, examining 1,350 20-year olds who have been followed since their prenatal period. His group is now re-examining this cohort at age 28 years. Meta-analysis confirmed the association of outdoor activity as protective for myopia. An environmental measure taken in these cohorts is conjunctival UV autofluorescence, a marker of outdoor activity that is inversely correlated with myopia, thus allowing further analysis of gene environmental interaction in myopia. GWAS and exome chip data is available on these cohorts and contribute data to two international consortia.
JE Craig, DA Mackey, S Macgregor, AW Hewitt. Translating genetic determinants of glaucoma into better diagnosis and treatment. NHMRC Program 2019-2023
DA Mackey, T Dickens, A Gajdatsy. Perpetual IMPACT Philanthropy. Preventing blindness caused by ocular cancer – investigation of genetic factors that lead to the development of tumours in the eye. 2016.
K North (CIA) DA Mackey (Associate Investigator). NHMRC Targeted Calls for Research. Preparing Australia for the Genomics Revolution. 2016-2020.
J Craig (CIA) DA Mackey (Associate Investigator). NHMRC Project. High penetrance deleterious mutations in blinding glaucoma. 2016-2018.
RV Jamieson (CIA), DA Mackey (Associate Investigator). NHMRC Project. Pathways to treatment in blinding genetic retinal eye diseases. 2016-2018.
R C-B Wong (PI), DA Mackey (Associate Investigator). NHMRC New Investigator. Modelling LHON using human induced pluripotent stem cells. 2015-2017.
DA Mackey. Genetic association of precise spectral domain OCT measured optic nerves to identify candidate glaucoma genes. BrightFocus G2014032. $99,253.84. 2015-2016
DA Mackey. Perpetual IMPACT Philanthropy. Does modification of time outdoors during childhood affect myopia in early adulthood? 2015.
L Hopper, J Craig, DA Mackey, B Byrne, S Simpson, P Ferreira. NHMRC Centres of Research Excellence. 2014-2018.
L Griffiths, DA Mackey, R Lea, J Sherwin, J Curran, M Johnson, C Bellis. NHMRC Project. Identifying glaucoma risk variants in the Norfolk Island genetic isolate. 2014-2016.
I Trounce, J Crowston, DA Mackey. NHMRC Project. OXPHOS upregulation to preserve vision in Leber's Hereditary Optic Neuropathy. 2014-2016.
J Craig, K Burdon, R Casson, J Landers, S Graham, P Healey, A Agar. DA Mackey (Associate Investigator). NHMRC Project. PROGRESSA Study. 2013-2017
R Hart (CIA), DA Mackey (Associate Investigator). NHMRC Project. The long-term consequences of IVF treatment for the offspring - a prospective cohort study using the Raine Cohort for comparison. 2013-2017
J Charlesworth, J Blangero, DA Mackey, KP Burdon. NHMRC Project. Identification of glaucoma susceptibility variants by exome sequencing in extended pedigrees showing prior evidence of gene segregation. 2013-2015
S Sharma, KP Burdon, JE Craig, DA Mackey, R de Iongh, N di Girolamo. NHMRC Project. The role of EPHA2 signalling and environmental modifiers in cataract. 2011-2013
DA Mackey: Alcon Research Institute 2010 Awardee.
P Sanfilippo, D Mackey. ORIA/Eye Foundation. The heritability of optic disc shape. 2010
Ponsonby A-L (CIA), Mackey DA (Assoc Investigator). NHMRC Project.The role of low sun exposure in the onset of type 1 diabetes mellitus. 2010-2012
Trounce I, Crowston J, Mackey DA, Hewitt A, McKenzie M. NHMRC Project. Oxidative phosphorylation regulation and neuroprotection in optic neuropathies. 2010-2012
JE Craig, S Sharma, NH Voelcker, KP Burdon, DA Mackey, M Brown. NHMRC Project. Dissecting the pseudoexfoliation syndrome with complementary genetic, proteomic and biophysical strategies. 2009–2011
JE Craig, S Macgregor, DA Mackey, AW Hewitt, JC Charlesworth, KP Burdon, NHMRC Project. A genome-wide association study in 2000 glaucoma cases with matched controls using equimolar DNA pools. 2009-2011
KP Burdon, JE Craig, VB Bui, S MacGregor, R Savarirayan, DA Mackey. NHMRC Project. Understanding the genetic determinants of central corneal thickness and its functional role in glaucoma pathophysiology. 2009–2010
DA Mackey, PI on NEI Project Grant International Collaborative Twin Study of Refractive and Glaucoma Endophenotypes with Dr Terri Young in the US, funding analysis of the Australian and UK twins. 2007–2010
KP Burdon, JE Craig, S Sharma, DA Mackey. NHMRC Project. Genetic and molecular basis of congenital cataract. 2007 – 2009
JE Craig, DA Mackey, J Gecz. NHMRC Project. Genetic studies of congenital cataract. 2004-2006
Baird PN, Mackey DA, Craig JE. NHMRC Project. The genetics of glaucoma. 2000-2002
Professor Mackey has devoted his career to decreasing blindness from optic nerve disorders. His work has revolutionised the management of two serious hereditary eye diseases, particularly clinical and molecular genetic aspects of:
• Hereditary Optic Atrophy (Leber and ADOA)
He also studies the genetic influences in the following eye diseases:
• Age-related macular degeneration, retinal dystrophies and retinal detachment
• Strabismus and Ptosis
• Corneal dystrophies, Keratoconus and Myopia
His research is focussed through several studies:
• Twins Eye Studies
• Glaucoma Inheritance Study in Tasmania
• Norfolk Island Eye Study
• Raine Cohort eye health study
• Busselton Healthy Aging Study
International Consortia participation (Active)
Consortium for Refractive Error and Myopia (CREAM)
International Glaucoma Genetics Consortium (IGGC)
Runs of Homozygosity Genetics (ROHgen) consortium
International AMD Genomics Consortium (IAMDGC)
Recent membership of
Genetic Investigation of ANthropometric Traits (GIANT) consortium
International Leber Hereditary Optic Neuropathy Consortium
Professor Mackey has supervised/co-supervised to completion: 1 DM, 8 PhD, 7 Masters and 5 honours students. He is currently supervising 5 PhD and 3 Masters students as well as approximately 20 UWA and/or University of Tasmania medical students conducting research projects with him each year. He mentors several early career scientists as part of the UWA mentoring program. In addition he conducts basic science tutorials and clinical science tutorials for ophthalmology registrars and fellows in WA. In 2012 he was awarded the RANZCO Excellence in Training award and is a member of the RANZCO leadership training committee. In order to promote the careers of clinicians and scientists he mentors and collaborates with, he rarely takes first authorship position on papers. He spends one week each year teaching paediatric ophthalmology and genetics to ophthalmology trainees in Dili, East Timor. In 2014 he was elected to the Australian Academy of Health and Medical Sciences.
He teaches across the full spectrum of the clinical training, undergraduate and higher degree student communities. His 'encouragement toolkit' is diverse, aiming to encourage students to develop self-discipline and an independent outlook to their learning and thinking. His 10-step outline of “Training peer reviewers” was published in the journal Nature. 2006;443:880.
Teaching: While some students at The University of Western Australia's Centre for Ophthalmology and Visual Science plan a career as pure scientists, often an equal number plan to combine clinical work with research. However, the topics covered in weekly tutorials will concern everyone at some point in their career; and this is the common factor that invigorates debate and fosters an attitude among the students to challenge, analyse and review. This is vital if they are to develop enquiring minds that make new discoveries; rigorously question clinical and/or scientific hypotheses; and support their peers and the next generation of clinicians and scientists.
Train the trainers: Professor Mackey supports the “learn by teaching” pyramidal structure of higher degree students themselves supervising undergraduate and high school students. This allows him to train the trainers in clinical ophthalmology as well as in scientific method. MBBS qualified medical doctors undertaking their Masters or PhD degree at the Lions Eye Institute are appointed as clinical lecturers teaching basic ophthalmology to Year 5 UWA and Notre Dame University undergraduate medical students.
Skills training: Students are required to write a review article concurrent to the literature review of their thesis. In most cases these are published during the first year of enrolment. Other papers are also mile-stoned as thesis chapters. Their peers assist in the review of manuscripts prior to submission, thereby helping each other to achieve a high standard of literature early in their career. Students regularly present updates on their work at internal meetings and are also encouraged to submit abstracts for oral presentation at national and international ophthalmology meetings.
2016 Associate Dean (Research), Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia
1997-2009 Associate Professor, University of Melbourne Department of Ophthalmology
1994-1996 Senior Lecturer, University of Melbourne, Department of Paediatrics
Royal Australian and New Zealand College of Ophthalmologists
2015-current Member: Leadership Development Program
2011-2016 Member, Council RANCO
2011-2014 Chair, Western Australian branch, Royal Australian and New Zealand College of Ophthalmologists
2009-2014 Member, Royal Australian & New Zealand College of Ophthalmologists Program Committee for the scientific program at the Annual Scientific Meeting
2003-2011 Examiner (Genetics): Royal Australian & New Zealand College of Ophthalmologists
Glaucoma Research Society
2015-2017 Member, Executive Committee
Asia-Pacific Academy of Ophthalmology
2016-current Regional Secretary [Australia & New Zealand] and Chair of the Membership Committee
Ophthalmic Research Institute of Australia
2015-current Chair, Scientific Advisory Committe
Association for Research and Vision in Ophthalmology (ARVO) (Mentor, Leadership Development Program for Women in ARVO (2016-current)
American Academy of Ophthalmology
Current Member, Basic and Clinical Science Course (BCSC) Sect. 2 Subcommittee, Fundamentals and Principles of Ophthalmology)
2010-current Ophthalmologist, honorary appointment, Retina Australia (WA)
2006 Volunteer ophthalmologist, Athletes’ Village, Commonwealth Games Melbourne
2000 Volunteer ophthalmologist, Athletes’ Village, Olympic Games Sydney
Community engagement and involvement: As head of a medical research institute, Professor Mackey has numerous public speaking commitments ranging from radio and television interviews to community and patient-support group meetings.
Professional involvement: He was a member of the NHMRC Human Genetics Advisory Committee, (2012-2015) and the NHMRC Panel for the evidence based medicine guidelines for glaucoma (2009-2010).
Roles and responsibilities
2009 - current Professor of Ophthalmology, Centre for Ophthalmology and Visual Science and Managing Director Lions Eye Institute
2017 - current Member, Faculty Research Committee, Faculty of Medical and Health Sciences, The University of Western Australia
2014 - current Member, Raine Study Scientific Advisory Subcommittee
Ophthalmology, MD, University of Melbourne
University of Western Australia28 Feb 2009 → …
Mackey, D., Craig, J., MacGregor, S. & Hewitt, A.
1/01/19 → 31/12/23
TPCHRF - Round 6 - Investigating the genetic and environmental factors involved in early onset myopia
Mackey, D., Carvalho, L., Mellough, C. & Jusuf, P.
1/07/18 → 30/06/20
1/01/17 → 31/12/21
Research Output per year
Research output: Contribution to journal › Review article
Research output: Contribution to journal › Abstract/Meeting Abstract
Research output: Contribution to journal › Abstract/Meeting Abstract
Congenital blindness is protective for schizophrenia and other psychotic illness. A whole-population study.Morgan, V. A., Clark, M., Crewe, J., Valuri, G., Mackey, D. A., Badcock, J. C. & Jablensky, A., 1 Dec 2018, In : Schizophrenia Research. 202, p. 414-416 3 p.
Research output: Contribution to journal › Letter
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseasesIglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., Höhn, R., Springelkamp, H., Cuellar-Partida, G., Gharahkhani, P., Bailey, J. N. C., Willoughby, C. E., Li, X., Yazar, S., Nag, A., Khawaja, A. P., Polašek, O., Siscovick, D., Mitchell, P., Tham, Y. C., Haines, J. L., Kearns, L. S. & 124 others, 1 Dec 2018, In : Nature Communications. 9, 1, 1864.
Research output: Contribution to journal › Article