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Spotlight shone on ‘neglected’ childhood blindness

17/10/2018By Myles Hume
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A $250,000 funding boost for Lions Eye Institute (LEI) has spurred the creation of a specialist research group putting juvenile macular degeneration under the microscope.

The condition is one of the most common causes of legal blindness in Australian children, affecting one in every 5000 children and adolescents with profound educational, personal development and economic impacts. LEI is forming a Centre of Research Excellence in Juvenile Macular Disease to examine juvenile macular degeneration – a research area it claims has been neglected too long.

Funded with a $250,000 Telethon Perth Children’s Hospital Research Fund grant, Dr Fred Chen, from LEI, will lead a team of research scientists from Sir Charles Gairdner Hospital, Perth Children’s Hospital, Murdoch University, CSIRO and Queensland University of Technology.


“It is time that it receives appropriate resources to reduce delays in clinical diagnosis, improve accuracy of genetic diagnosis and develop disease progression monitoring tools.”
Fred Chen, LEI

Chen said exciting new molecular, gene and cell-based therapies were being developed, but there was a lack of infrastructure in Australia to support the accurate genetic diagnosis and monitoring of disease progression needed to identify children most at risk of losing eyesight.

He said it was not uncommon for diagnosis to be delayed by months or years, leading to lost opportunities for children to receive additional visual support – especially at school.

Inherited retinal diseases account for 44% of blindness in children and adolescents in Western Australia and the most common form is juvenile macular degeneration.

“It is time that it receives appropriate resources to reduce delays in clinical diagnosis, improve accuracy of genetic diagnosis and develop disease progression monitoring tools,” Chen said.

The centre will be the first attempt to bring together five separate, but related, aspects in the clinical management of juvenile macular degeneration: early clinical recognition, accurate genetic diagnosis, clinical protocol for disease monitoring, modelling of disease in the petri dish, and personalised medicine development.

“We believe an integrated approach will empower each patient and facilitate collaborative research to understand this disease and discover new treatments,” Chen said.

“It will also allow us to develop and implement a clinical protocol for monitoring disease progression rates and identify the most suitable candidates for molecular, gene and cell-based therapies.”

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Meanwhile, LEI director of research Professor Mariapia Degli-Esposti has joined an elite group of medical scientists after being elected as a fellow of the Australian Academy of Health and Medical Sciences (AAHMS).

The AAHMS provides impartial leadership on health and medical research in Australia, mentors the next generation and provides a forum for discussion about progress on medical research.

Degli-Esposti is an internationally recognised viral immunologist and an NMHRC Principal Research Fellow at UWA. Her experimental immunology group is globally unique with a research focus on cellular and molecular interactions that occur in response to viral infection.

She joins a small group of Western Australian AAHMS members, including Nobel Laureate Professor Barry Marshall, WA chief scientist Professor Peter Klinken, Professor Fiona Stanley, Professor Fiona Wood and LEI managing director Professor David Mackey.

In other AAHMS news, Professor Mackey has been elected chairman of the Western Australian branch. Perth will host the academy’s national meeting next year.

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