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Research Centre

Genetics and Epidemiology

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Genetics and Epidemiology

Professor David Mackey oversees LEI’s Clinical Genetics and Epidemiology department. He has spent 20 years studying the genetics of the optic nerve, with Leber Hereditary Optic Neuropathy the topic of his doctoral thesis.

In 1993 he initiated the Glaucoma Inheritance Study in Tasmania (GIST), creating one of the largest glaucoma biobanks in the world, and is now recognised as an international leader in the genetics of glaucoma. In 2000 he started the Twins Eye Study in Tasmania and Brisbane to investigate the genetic and environmental factors contributing to the ocular biometry related to glaucoma and myopia. A similar study, the Western Australian Eye Protection Study, is now underway investigating the environmental factors of outdoor activity, sun damage and myopia. David also leads the Norfolk Island Eye Study, examining 800 descendants of the Bounty Mutineers and in Western Australia the eye health investigation of 2,000 20-year olds from the Raine Study birth cohort. He has over 250 publications across a wide range of genetic eye diseases.

Research Projects

The National Health and Medical Research Council’s Centre of Research Excellence project: The Translation of Genetic Eye Research is a five-year $2.5 million national research effort to take the new discoveries in genetics of eye disease and translate them into improved patient care.

This project involves research teams from Western Australia, South Australia, Victoria and Tasmania. As well as regular teleconference meetings all the Chief Investigators, Associate Investigators and Scientific Advisory Group came to Perth in September to review the first year of activities and plan the next four years.

A study involved in this research is the Ophthalmic Western Australian Biobank (OWAB) study. This research study consists of a large collection of blood and DNA from people with eye diseases as well as people with healthy eyes.

Comparing DNA between a large number of people with a specific eye disease (e.g. glaucoma) and a large number of people with healthy eyes will help us find out how your genes can influence your risk of eye disease.

If you would like to participate in this research, please contact Nicola Seed on (08) 9381 0707 or email NicolaSeed@lei.org.au for more information.

The Raine Study is a longitudinal study that began in 1989, recruiting nearly 3000 women at around 18 weeks of pregnancy. It is one of the world’s largest and most successful studies of the influences of genetics, pregnancy, childhood and adolescence on subsequent health and developmental outcomes.

The 20-year-old follow-up of 2000 cohort participants had a predominant focus on eye health – the Raine Eye Health Study. This is one of the first studies of eye health and diseases in young adults, for which very little data exist as it is presumed that young adults have the best vision.

Outdoor sports involve exposure to sun, which has both beneficial and potentially harmful effects. For example, ultraviolet (UV) light helps us make Vitamin D, which is important for bone strength, but UV also increases the risk of skin cancer. Thus a balance is important.

Similarly some outdoor exposure seems to protect adolescents from developing short-sightedness (myopia) but excess UV exposure increases the risk of UV damage to the front of the eye, causing pterygium (see picture).

Wearing hats and sunglasses is practical for some sports and outdoor activities but it is less so for others – e.g. surfing. Goggles used in swimming, if worn too tightly, may be increasing the risk of the eye disease glaucoma that causes loss of side vision.

Therefore, the main aims of this research are to:

  • evaluate the use of eye protection (e.g. sunglasses, goggles) by those involved in regular sports, outdoor activity or swimming
  • determine evidence of sun damage to the eye in these groups
  • assess levels of glaucoma damage to the eye in these groups

Participation involves attending the Lions Eye Institute for a free comprehensive eye examination and completing two questionnaires about your general health and physical activity.

If you would like to participate in this research, please contact Nicola Seed on (08) 9381 0707 or email NicolaSeed@lei.org.au for more information.

Strabismus (misalignment of the eyes) affects three to five per cent of the general population. It is often associated with amblyopia, otherwise known as a lazy eye (failure of normal visual development) and reduced or absent binocular (stereoscopic) vision. Thus early diagnosis and treatment enables optimal visual outcomes. The associated poor cosmetic appearance may also interfere with social and psychological development.

Twin, population and family studies suggest there is a genetic component to strabismus. Research allows better understanding of the mechanism by which strabismus occurs, identifying those at higher risk and the potential to develop new treatments. Good vision in childhood is essential to the proper development of vision into adulthood.

The Busselton Study is well known as a major population health study that has been ongoing since the 1960s.

In 2010, the Busselton Population Medical Research Foundation started a study to explore why some people are able to remain healthy and active throughout their senior years, whilst others suffer ongoing illness and infirmity – the Busselton Healthy Ageing Study. There is an eye component within this study, for which the Lions Eye Institute through Professor David Mackey is providing financial and equipment support.

In an exciting breakthrough, we now have the technology to grow retinal cells in a laboratory from a small sample of skin. Through the generation of retinal cells from skin biopsies of people with and without eye disease, this study aims to:

  • further our understanding of HOW your genes can determine whether you develop an eye disease
  • enable the testing of new treatments on retinal cells without the need to obtain a specimen directly from the eye
  • identify suitable therapies for people with eye disease.

Participation involves having a small sample of your skin (approximately 3mm) removed from your forearm. Local anaesthetic will be used at the site.

If you would like to participate in this research, please contact Nicola Seed on (08) 9381 0707 or email NicolaSeed@lei.org.au for more information.

Eye injuries to children resulting in permanent vision loss have a devastating impact not only on their lives but also the people around them. Recognising the need to reduce children’s eye injuries, Perth philanthropist Joyce Henderson made a bequest to support work into prevention of children’s eye injuries. With funding from the Joyce Henderson trust, the LEI is helping work toward this aim by researching the causes for these injuries and how best to prevent them.

A prospective study is being conducted at Perth Children’s Hospital to determine in more detail the epidemiology of eye injuries in children. Working with health care providers and the community, education campaigns are being developed to help deliver this important message. Each year an ophthalmology fellow is employed to conduct this very important work alongside key researchers at the Lions Eye Institute. For more information and to check your eligibility for applying for the fellowship click here.

The Western Australian Kidskin Study was a school-based intervention study that began in 1995. The study involved a cohort of children aged 5-6 years who were recruited from 33 primary schools in Perth. The Kidskin study aimed to design, implement and evaluate an intervention program intended to improve sun protection behaviour in young children.

This intervention resulted in a reduction in time spent outdoors and an increase in the use of sun protection whilst outdoors.

The aim of our research now is to gain knowledge from an existing cohort of young people whose outdoor activities and use of sun protection were assessed in childhood. We would like to investigate if this childhood intervention has influenced the development of myopia in early adulthood.

All previous participants of the Kidskin Study are eligible to partake in the Kidskin Study follow-up. Participation involves completing a free comprehensive eye examination and two questionnaires. If you would like to participate, please contact Nicola Seed at nicolaseed@lei.org.au.

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