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Wednesday / October 27.
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Principles of Genetics

Proving the educational power of interesting stories and examples, an informative article about genetics, written by Professor David Mackey and published with open access in the journal Eye, has been read by thousands of people worldwide within a week of its release.

The Professor of Ophthalmology at Lions Eye Institute, University of Western Australia and world leader in the translation of genetic eye disease research into treatment, is now encouraging others to take advantage of the open access saying teaching genetics to clinicians is increasingly important as more common eye diseases are shown to have genetic contributions.

I received messages from readers who said they found this article very easy to follow and through it, to understand the principles of genetics

“Thus genetic eye disease does not just refer to paediatric syndromes and inherited retinal diseases, but also to age-related macular degeneration, glaucoma and myopia to name a few,” Prof Mackey said.

“We are discovering more genetic associations with eye disease every year. This is leading to new treatments for diseases. In particular we now see gene therapies for inherited retinal diseases being licenced for use in Australia.

“Additionally, gene testing can be used to predict individuals at high risk of diseases for which we have treatments available, including glaucoma and myopia.”

Understanding Important to Patient Care

Prof Mackey says eye care providers now need to understand basic Mendelian genetics as well as more complex genetics ideas so they can offer their patients the latest treatments testing and screening.

While teaching genetics can be a challenge to people unfamiliar with many of the basic concepts, he says one way to do this is to look at interesting stories and examples that bring genetic concepts to life.

“Personal experience or stories are an easier way to learn – looking at traits within one’s own family, such as eye colour, is a good way to learn and if everyone in your family has the same eye colour then fictional families on television can be used,” Prof Mackey said.

“For example there has been considerable interest in television shows, such as Game of Thrones, where the eye colour of characters played an important role in understanding roles and relationships. These could even be genetic or environmental in origin.

“The way a person perceives colour also has genetic contributions – whether it is the common, simple X-linked colour blindness or more complex genetic and environmental factors involved in the perception of things, as seen in the viral Internet sensation #TheDress.”

In 2019, Professor Mackey presented the Royal College of Ophthalmologist conference Edridge Green lecture, combining various aspects of genetics with popular culture to give a narrative on genetics of eye colour.

“As part of my lockdown research writing, I wrote this up as a paper for the journal Eye. To my amazement, in the first week of publication this article, which was made open access so anyone could read it without a journal subscription, had been accessed 13,000 times.

“In addition I received messages from readers who said they found this article very easy to follow and through it, to understand the principles of genetics. One reader had actually sent it to some of his friends who were school science teachers.

“It is very pleasing to have such interest in a publication and I would recommend anyone with an interest in learning more about genetics or eye colour to access the journal,” Prof Mackey said.

Download the article at www.nature.com/articles/s41433-021-01749-x.

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