Kids’ vision to get a vital boost

(L-R): Dr Livia Carvalho with Dr Jessica Mountford

A new Nikon AX-R confocal microscope will expedite research into blinding childhood diseases at the Lions Eye Institute, thanks to support from Channel 7 Telethon Trust, The Ian Potter Foundation and the Western Australian community.

Confocal microscopy is an advanced imaging technique with a multitude of applications in biomedical research. The new microscope will enable scientists at the Institute to reconstruct high-resolution, three-dimensional models of disease samples such as patient-derived stem cells and retinal organoids.

Dr Livia Carvalho, Head of the Retinal Genomics and Therapy research group, says the new microscope will greatly improve the quality and speed of data acquisition and analysis, and help to expedite the process of developing new personalised therapies for Western Australian children with inherited retinal diseases. Delivery of the microscope is expected in the second half of 2022.

“We, and other groups at the Institute, are working on several promising new treatments for inherited retinal diseases including retinitis pigmentosa, Stargardt disease and Usher syndrome. The high-resolution imaging data obtained from using the confocal microscope will be essential to assess the efficacy of these treatments,” she says.

“The microscope will also complement the work of other scientists at the Lions Eye Institute, including Associate Professor Fred Chen and Dr Sam McLenachan’s work on inherited retinal diseases, and Dr Jessica Mountford’s research into the genetic and environmental factors behind early-onset myopia, or shortsightedness, in children.”

Over the past year the Lions Eye Institute has received more than $2 million from Telethon to support various research projects. In addition to the confocal microscope, Lions Eye Institute projects being supported by Telethon include:

Dr Jessica Mountford

Investigating the progression of early-onset myopia in children
Brian King Research Fellow, Dr Jessica Mountford, is researching the increasing prevalence of myopia in children as young as six years old. Early-onset myopia can lead to high-myopia in adulthood, causing devastating impacts on vision and quality of life. With more than 23,000 myopic children aged 0-14 years in Western Australia, this research is crucial. Read more about Dr Jessica Mountford and her research.

Associate Professor Fred Chen

Development of personalised medicine for children with inherited retinal diseases
In Australia, one in every 1,500 children is born with an eye disease, and inherited retinal disease (IRD) is the most common cause of childhood eye disease. Associate Professor Fred Chen is developing new gene-based therapies to treat and cure IRDs, such as the replacement of a faulty gene or addition of a new gene.

Purchase of a stem cell robot
Mrs Rhonda Wyllie and her family, through the support of Telethon, last year pledged an incredible $750,000 to enable the Institute to buy Western Australia’s first stem cell robot. This will potentially save the sight of hundreds of children by accelerating the development of therapies for patients with inherited retinal diseases. Read more about the stem cell robot.

Dr Livia Carvalho in a lab coat smiling at the camera.

Dr Livia Carvalho

Creation of novel nanotechnology-based gene therapies to cure vision loss in children with Usher syndrome
Usher syndrome is a rare and devastating genetic disorder affecting young children that results in both deafness and blindness. Dr Livia Carvalho is leading this project, which will use novel technologies to optimise a gene therapy to treat Usher type 1 vision loss, tested directly on the affected cells using specialised patient-derived disease models. One of the 2020 Little Telethon Stars, Eamon Doak, and his brother Kealan, have Usher syndrome; they were born deaf and will gradually lose their eyesight.

Associate Professor Angus Turner

Development of a paediatric ophthalmology service in the North West
Led by McCusker Director Lions Outback Vision, Associate Professor Angus Turner, this project will provide early intervention in vision challenges in the Pilbara and Kimberley, in order to reduce the long-term health effects and educational setbacks of untreated vision issues. It will include a school-based paediatric diabetic retinopathy screening program. The project will also embed public health messages for preventative eye care, and work towards matching the urban access to ophthalmology services for children in regional areas.

A second grant will support Lions Outback Vision to take the diabetic screening program into remote communities and will complement the school screening program funded through the first grant.

Associate Professor Chandra Balaratnasingam

Detection of early retinal microvascular dysfunction
Nearly 100 per cent of children with type 1 diabetes will eventually develop diabetic retinopathy. Associate Professor Chandra Balaratnasingam is leading this project using a novel, non-invasive approach to detect changes to the micro blood vessels in the retina, to help predict the development of kidney disease in children with diabetes, as well as reduce the rate of blindness and kidney failure in these children. Read more about the impact of diabetic retinopathy on children.

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