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.

Mackey DA. What is the normal range of intraocular pressure in children and young adults, and does it predict later glaucoma? Glaucoma Australia Quinlivan Research Grant. 

Mackey DA. Understanding the genetic, environmental, hormonal and other factors that could trigger vision loss from Leber Hereditary Optic Neuropathy. Mito Foundation Incubator Grant 

Craig J, Pesudovs K, Graham S, Casson R, Karnon J, White A, Haley P, Mackey DA, Gharahkhani P, Harvey G, Kitson A, Souzeau E, Siggs O, Hewitt A, Lee S. Implementing a novel model of management for glaucoma using polygenic risk profiling. MRFF 

Carroll J, … Mackey DA et al. Introducing Mitochondrial Donation into Australia: The mitoHOPE (Healthy Outcomes Pilot and Evaluation) Program. MRFF 

Mackey DA, Blyth C, Kermode A, Lee S. Prevalence of infection from common currently unvaccinated infectious diseases that cause blindness. Channel 7 Telethon Trust. 

Macgregor SM, Martin K, Nguyen T, Mackey DA, Hewitt A et al. Ensuring genetics based prediction of glaucoma can benefit all Australians. MRFF  

Mountford J, Mackey DA, Carvalho L (AI), Clark A (AI). Investigating the progression of early-onset myopia in children. Channel 7 Telethon Trust. 

Gharanhkani P, MacGregor S, Hewitt AW, Trzaskowski M, Mackey DA, Craig JE. Harnessing Artificial Intelligence to Identify Risk Genes for Glaucoma. Brightfocus 

Mackey DA, Alonso-Caneira D, Charng J. Applying machine learning to efficiently analyse fundus autofluorescence images in preparation for gene therapy. Ophthalmic Research Institute of Australia. 

JE Craig, DA Mackey, S Macgregor, AW Hewitt. Translating genetic determinants of glaucoma into better diagnosis and treatment. NHMRC Program 2019-2023

DA Mackey. Understanding, predicting, preventing and treating the highly heritable, common eye diseases glaucoma and myopia to reduce blindness and visual impairment NHMRC Practitioner Fellowship 2019-2023

Mackey DA. Establishing Risk of Vision Loss in Leber Hereditary Optic Neuropathy Families. Ophthalmic Research Institute of Australia. $50,000. 2018

Yazar S, Meynert A, Hewitt AW, Mackey DA. Comparative Genomics of the Bared-nosed Wombat, a mammalian with five-star energy rating to elucidate mechanisms of energy wasting syndrome. University of Western Australia Research Collaboration Award. 2018

DA Mackey, AW Hewitt, C Hammond, S Macgregor, K Rose, E Milne, R Lucas, FK Chen, M He, J Guggenheim. Young adult myopia: genetic and environmental associations. NHMRC Project. 2017–2020

D Green (CIA) et al, DA Mackey (AI). Developmental origins of adult cardiovascular disease: vascular health in the Raine Cohort. NHMRC Project. 2017-2021

DA Mackey, JE Craig, AW Hewitt, I Goldberg, J Landers. Targeting at risk relatives of glaucoma patients for early diagnosis and treatment (TARRGET). NHMRC Partnership. 2016–2019

DA Mackey, JE Craig, AW Hewitt, KP Burden, R Jamieson, J Grigg, S Macgregor, FK Chen, M Otlowski, D Schofield. From discovery to therapy in genetic eye diseases. NHMRC Centres of Research Excellence. 2016-2021

Mackey D, Lam G, Clark A. WA ATOM pilot study; Atropine treatment of myopia.  Telethon–Perth Children’s Hospital Research Fund. 2016-2017 

D Sampson, S Collin, A Whiteley, DA Mackey, M Linden, M Berndt, P Newsholme, G Verdile, J Tirnitz-Parker, D Nelson, S Mallal, U Ryan, P Stumbles, G Maker, R Martins, M Ziman, E Gray, D Strickland, J Waithman, M Howlett, B Foley. ARC LIEF Mass Cytometry: A breakthrough in multidimensional systems biology. 2016

DA Mackey, T Dickens, A Gajdatsy. Preventing blindness caused by ocular cancer – investigation of genetic factors  that lead to the development of tumours in the eye. Perpetual IMPACT Philanthropy. 2016

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). Preparing Australia for the Genomics Revolution. NHMRC Targeted Calls for Research. 2016-2020

J Craig (CIA) DA Mackey (Associate Investigator). High penetrance deleterious mutations in blinding glaucoma. NHMRC Project. 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). Modelling LHON using human induced pluripotent stem cells. NHMRC New Investigator. 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)

• Glaucoma

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

Previous consortia

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.

Academic

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

Community appointments

Australian Academy of Health and Medical Sciences

2018-current   Chair (Western Australia)

Royal Australian and New Zealand College of Ophthalmologists

2020 -  current  Chair, Professors Special Interest Group, Royal Australian & New Zealand College of Ophthalmologists (including Member, RANZCO Council: Member, RANZCO Trainee Selection Board)

2019 - current  Chair, Evidence-based Ophthalmic Practice working group, Royal Australian & New Zealand College of Ophthalmologists

2015-current    Member: Leadership Development Program

2011-2016       Member, Council RANZCO

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

2019 - current Mentor, Academy of Asia-Pacific Professors of Ophthalmology (AAPPO) Academic Development Mentorship Scheme (ADMS)

2016-current   Regional Secretary [Australia & New Zealand] and Chair of the Membership Committee

Ophthalmic Research Institute of Australia

2015- 2019  Chair, Scientific Advisory Committee

2007-current Board member 

Association for Research and Vision in Ophthalmology (ARVO)

2016 - 2019 Mentor, Leadership Development Program for Women in ARVO 

American Academy of Ophthalmology

Current           Member, Basic and Clinical Science Course (BCSC) Sect. 2 Subcommittee, Fundamentals and Principles of Ophthalmology)

Retina Australia

2020 - current Member, Scientific and Medical Advisory Committee

2010-current   Ophthalmologist, honorary appointment

2006               Volunteer ophthalmologist, Athletes’ Village, Commonwealth Games Melbourne

2000                Volunteer ophthalmologist, Athletes’ Village, Olympic Games Sydney

Community engagement and involvement: As a widely respected clinician-scientist, 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).

2019 - current Member, Scientific Strategy Committee, supporting the Genomics Health Futures Mission Expert Advisory Committee

2019 - current Member, Scientific Advisory Committee, multiple sclerosis (MS) Flagship Program, Menzies Institute for Medical Research, Tasmania 

Employment

2009 -  current            Professor of Ophthalmology, Centre for Ophthalmology and Visual Science

2009 - 2019                Managing Director Lions Eye Institute

Academic

2019 - current            Member, Adjunct Appointments Committee (Research Centres), Faculty of Health and Medical Sciences, The University of Western Australia

2017 - current             Member, Faculty Research Committee, Faculty of Medical and Health Sciences, The University of Western Australia

Research Committees

2014 - current            Member, Raine Study Scientific Advisory Subcommittee