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Professor David Mackey AO

Professor David Mackey AO is an NHMRC Practitioner Fellow. He is the former Managing Director of the Lions Eye Institute (2009-19), a councillor of the Royal Australian and New Zealand College of Ophthalmologists (RANZCO) and current RANZCO representative on the Council of the Asia Pacific Academy of Ophthalmology.

He is past president of the International Society for Genetic Eye Disease and Retinoblastoma. David is a renowned international researcher in the genetics of eye disease and has published over 400 peer reviewed papers since 1989. He is the world’s most published author in glaucoma genetics and is a lead investigator in the International Glaucoma Genetics Consortium and the Consortium for Refractive Error and Myopia.

In 1993, Professor Mackey initiated the Glaucoma Inheritance Study in Tasmania, thereby creating one of the largest glaucoma biobanks in the world, with over 5,000 DNA samples and clinical material from familial and sporadic cases of glaucoma.

Education/academic qualifications/roles responsibilities

  • M.B.B.S. (University of Tasmania) Dec 1983
  • FRANZCO/FRACS: 1991

Fellowships

  • NHMRC Practitioner Fellow
  • Academy of Asia-Pacific Professors of Ophthalmology (elected 2017)
  • Australian Academy of Health and Medical Sciences (elected 2015)
  • Royal Australasian College of Surgeons (1991)
  • Royal Australian and New Zealand College of Ophthalmologists (1991)

Board Memberships

  • Asia-Pacific Academy of Ophthalmology (Regional Secretary [Australia & New Zealand] and Chair of the Membership Committee, 2016-current)
  • Ophthalmic Research Institute of Australia (Appointed 2007-current)

Current Appointments

Academic

  • 2020 – Chair, Optometry Program inaugural Research Advisory Sub Committee, The University of Western Australia

Research

  • 2020 – Member, Research Committee, Busselton Population Medical Research Institute
  • 2020 – Member, Scientific and Medical Advisory Committee, Retina Australia
  • 2019 – Member, Scientific Advisory Committee, multiple sclerosis (MS) Flagship Program, Menzies Institute for Medical Research, Tasmania
  • 2014 – Member, Raine Study Scientific Advisory Subcommittee

Professional

  • 2020 – Chair, Professors Special Interest Group, Royal Australian & New Zealand College of Ophthalmologists (including Member, RANZCO Council)
  • 2019 – Mentor, Academy of Asia-Pacific Professors of Ophthalmology (AAPPO) Academic Development Mentorship Scheme (ADMS)
  • 2018 – Chair (Western Australia), Australian Academy of Health and Medical Sciences
  • 2015 – Member, RANZCO Leadership Development Program
  • 2011 – 2021 Member, Basic and Clinical Science Course (BCSC) Sect. 2 Editorial Subcommittee, Fundamentals and Principles of Ophthalmology, American Academy of Ophthalmology

Clinical

  • 2009 – Ophthalmologist, Lions Eye Institute
  • 1993 – Ophthalmologist, Royal Victorian Eye & Ear Hospital, Melbourne, Victoria
  • 1995 – Ophthalmologist, Royal Hobart Hospital, Hobart, Tasmania

Awards/Professional achievements

  • 2019 – AO: Order of Australia, for distinguished service to medicine, and to medical education, in the field of ophthalmology, as a clinician-scientist and academic
  • 2016 – Asia Pacific Academy of Ophthalmology Achievement Award
  • 2015 – American Academy of Ophthalmology Achievement Award
  • 2015 – “Kevin Bell” Churchill Fellowship Trust Award https://www.churchilltrust.com.au/fellows/detail/4044/David+Mackey%20AO
  • 2014 – Harvard Club of Australia Nonprofit Fellowship Award: Strategic Perspectives in Nonprofit Management
  • 2011 – Asia-Pacific Academy of Ophthalmology Distinguished Service Award
  • 2010 – Alcon Research Institute Awardee
  • 2009 – University Foundation Graduate Award, University of Tasmania
  • 2007 – Prize for Best Poster RANZCO
  • 2000 – Prize for the best scientific presentation at the European Glaucoma Society Meeting. Familial aggregation of glaucoma: experience with the Glaucoma Inheritance Study in Tasmania
  • 1997 – Rudin prize (New York Academy of Medicine) and US$50,000 for the Science paper on the GLC1A gene, as the best glaucoma paper published in the world for 1997
  • 1996 – Co-author on Glaucoma Inheritance Study in Tasmania I. A new autosomal dominant optic neuropathy resembling glaucoma, awarded the prize for the best scientific presentation at the European Glaucoma Society Meeting, Paris, June 1996.
  • 1993 – Kabi Pharmacia award for the best scientific paper at the 1993 Royal Australian College of Ophthalmologists, annual scientific meeting, Hobart.
  • 1993 – Founders cup and £250 for the best scientific paper at the 1993 Oxford Ophthalmological Conference.

Named Lectures

  • 2020 – Non-Strabismus Keynote Lecture, World Congress of Paediatric Ophthalmology & Strabismus, Online Congress. Genes and Environment: Towards Personalised Prevention of Myopia in Children
  • 2019 – J Bruce Hamilton Lecture, Royal Australian & New Zealand College of Ophthalmologists’ Tasmanian Annual Branch Meeting, Hobart Australia. Towards managing glaucoma as a genetic disease: 25 years of the Glaucoma Inheritance Study in Tasmania
  • 2019 – Edridge Green Lecture, Royal College of Ophthalmologists Annual Congress, Glasgow Scotland. What colour are your eyes: the genetics of eye colour and colour vision
  • 2017 – Franceschetti Lecture, International Society for Genetic Eye Diseases and Retinoblastoma. Leeds UK. Eye genetics at the fork in the road
  • 2015 – Marshall M Parks Lecture, American Academy of Ophthalmology meeting, Las Vegas US. The future progression of myopia: seeing where we are going
  • 2013 – Neil Della Memorial Lecture, Australian and New Zealand Society of Retinal Specialists Retina Symposium, Sydney. Genetics of retinal detachment
  • 2013 – Gillies Lecture, Australian and New Zealand Strabismus Society, Melbourne. Twins Eye Studies of strabismus
  • 2009 – Dare Shott Lecture, Clifford Craig Medical Research Trust meeting, Launceston. Eyesight – a clear vision of what research promises us
  • 2009 – Neil Gollan Lecture, Launceston General Hospital, Tasmania. Hereditary optic atrophy in Tasmania
  • 2009 – Inaugural Gerard Crock Lecture, Centre of Eye Research Australia, Melbourne. The ‘I’ in personalised genetics: twin studies reveal that genetics don’t completely control our destiny
  • 2008 – Ian Constable Lecture, The University of Western Australia, Perth. The ‘I’ in personalised genetics
  • 2008 – Gillies Lecture, Australian and New Zealand Glaucoma Interest Group, Melbourne. Dissecting glaucoma: understanding the molecular risk factors
  • 2005 – Norman McAlister Gregg Lecture Royal Australian and New Zealand College of Ophthalmologists Annual Meeting, Hobart. Congenital cataracts from rubella to genetics
  • 1999 – Council Lecture for the Royal Australian College of Ophthalmologists Annual Meeting, Melbourne. Retinopathy of prematurity: interaction of genes and the environment
  • 1998 – Fred Hollows Lecture at the Australian Basic Visual Science Meeting, Canberra. Five years experience with the Glaucoma Inheritance Study in Tasmania (GIST)
  • 1995 – Patricia Lance Lecture of the Australian Orthoptic Association Conference, Melbourne. The Glaucoma Inheritance Study in Tasmania (GIST)

Grants/scholarships/funding overview

  • Ophthalmic Research Institute of Australia. Applying machine learning to efficiently analyse fundus autofluorescence images in preparation for gene therapy. $47,800
  • 2019 – 2023 NHMRC Practitioner Fellowship 1154518. Understanding, predicting, preventing and treating the highly heritable, common eye diseases glaucoma and myopia to reduce blindness and visual impairment.
  • 2019 – 2023 NHMRC Program Grant 1150144. Translating genetic determinants of glaucoma into better diagnosis and treatment. $9,466,000
  • 2018 Ophthalmic Research Institute of Australia. Establishing Risk of Vision Loss in Leber Hereditary Optic Neuropathy Families. $50,000
  • 2017 – 2020 NHMRC Project Grant 1121979. Young adult myopia: genetic and environmental associations. $809,270.70
  • 2016 – 2019 NHMRC Partnership Grant 1132454. Targeting at risk relatives of glaucoma patients for early diagnosis and treatment (TARRGET). $1,253,747.20 ($595,374.80 from NHMRC)
  • 2016 – 2021 NHMRC Centres of Research Excellence Grant 1116360. From discovery to therapy in genetic eye diseases. $2,498,231.50
  • 2014 – 2018 NHMRC Centres of Research Excellence Grant 1079102 in Twin Research. $2,475,361
  • 2014 – 2016 NHMRC Project Grant 1058806. Identifying glaucoma risk variants in the Norfolk Island genetic isolate $635,745
  • 2014 – 2016 NHMRC Project Grant 1061472. OXPHOS upregulation to preserve vision in Leber’s Hereditary Optic Neuropathy. $481,013
  • 2013 – 2015 NHMRC Project Grant 1044996. Identification of glaucoma susceptibility variants by exome sequencing in extended pedigrees showing prior evidence of gene segregation. $671,330
  • 2012-2014 NHMRC Project Grant 1021105. Genome-wide association study (GWAS) for juvenile-onset myopia and its component measures to identify molecular pathways to prevent myopia. $482,445
  • 2012 – 2014 NHMRC Project Grant 1031920. Genetic etiologies of congenital esotropia. $361,257. 2012-2014
  • 2012 – 2016 NHMRC Centres of Research Excellence Grant 1023911. Translation of genetic eye research integrating education, counselling and testing with gene discovery and gene based therapies for eye disease. $2,499,889

Research Activity

Professor David Mackey AO has achieved international recognition as a genetic ophthalmologist. Although studying many genetic and environmental factors involved in eye disease, his major works centre on the optic nerve: glaucoma, optic neuropathies and the genetics of optic nerve biometry.

In 1994 he established the Glaucoma Inheritance Study in Tasmania. As glaucoma emerged as a complex genetic disease, he moved to large population studies of quantitative traits associated with the phenotypes of glaucoma and other eye diseases. Over the last 20 years these studies included: Twins Eye Study in Tasmania and Brisbane Adolescent Twin Study, Norfolk Island Eye Study; and in Western Australia: Raine eye health study and Busselton Healthy Aging Study. He is a lead investigator in the International Glaucoma Genetics Consortium, and the International Consortium for Refractive Error and Myopia.

He was part of the RANZCO working group that prepared the national guidelines for management of inherited retinal diseases, which has facilitated the translation of treatment of genetic eye diseases. Over the past 10 years he has edited the American Academy of Ophthalmology’s Basic Clinical Science textbook chapter on Genetics, the core teaching textbook for ophthalmology trainees.

Leading publications

  1. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021;12(1):1258. https://pubmed.ncbi.nlm.nih.gov/33627673/
  2. “Eye genetics at the fork in the road” 2017 Franceschetti Lecture, Leeds UK. Opthal Genet. 2020;41(3):201-7 Review https://pubmed.ncbi.nlm.nih.gov/32363976/
  3. Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia. Nat Genet. 2020;52(4):401-407. https://pubmed.ncbi.nlm.nih.gov/32231278/
  4. Associations between optic disc measures and obstructive sleep apnea in young adults. Ophthalmology. 2019;126(10):1372-1384 https://pubmed.ncbi.nlm.nih.gov/31196726/
  5. Pterygia are indicators of an increased risk of developing cutaneous melanomas. Br J Ophthalmol. 2018;102(4):496-501 https://pubmed.ncbi.nlm.nih.gov/28844049/

To read more publications from this researcher, go to https://pubmed.ncbi.nlm.nih.gov/.

Professor David Mackey AO
Professor David Mackey AO

Glaucoma, Genetic Eye Disease, Gene Therapies & Macular Degeneration, Indigenous & Community Eye Research,

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