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• Research: Sleep apnoea associated with age-related macular degeneration

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  Research: Sleep apnoea associated with macular degeneration

  A Centre for Eye Research Australia study has linked low levels of oxygen in the blood overnight – a common sign of obstructive sleep apnoea – with wet age-related macular degeneration.

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  The findings, published in the RANZCO Journal of Clinical and Experimental Ophthalmology, suggest obstructive sleep apnoea (OSA) could be a modifiable risk factor associated with the  ‘wet’ form of late-stage age-related macular degeneration (AMD).

  University of Melbourne Master’s student Attiqa Chaudhary along with members of the CERA’s Macular Research unit, led by Professor Robyn Guymer AM, conducted the study. They also worked with sleep disorder expert Professor Matthew Naughton from Monash University to analyse the results.

  The team conducted a sleep study involving 225 participants aged over 50 with different stages of AMD and measured their oxygen levels over three nights with a home-based finger oximeter. Their level of obstructive sleep apnoea was calculated based on the oxygen levels in their blood overnight.

  The results showed that moderate-to-severe obstructure sleep apnoea, which results in lower levels of oxygen in the blood overnight, was associated with an increased risk of having wet AMD compared to those without the condition.

  Study co-supervisor Dr Carla Abbott says the findings are something clinicians should be aware of.

  “Like AMD, sleep apnoea mainly affects people over the age of 50 and many people don’t realise they have it,” Dr Abbott says.

  “If this association is validated it may well be worth asking people with high-risk early stages of AMD if they have any symptoms suggestive of sleep apnoea, as treating it might reduce the risk of developing wet macular degeneration.”

  Nocturnal hypoxia and wet AMD

  Nocturnal hypoxia often occurs as a result of obstructive sleep apnoea, where a person’s airway becomes blocked or narrowed overnight, reducing their oxygen intake.

  A lack of oxygen overnight can cause various health issues over time, but the light-sensitive retina in the eye may be particularly sensitive to small drops in oxygen levels.

  “The retina is very active at night – it has its highest need for energy while it recovers from the day,” says Dr Abbott.

  Many people diagnosed with sleep apnoea use a CPAP device at night, which helps them breathe easier by providing a constant flow of air through a mask.

  “If people aren’t currently getting treatment, it’s putting them at risk over years of not sleeping properly and having low oxygen at night, which could be contributing factor to macular degeneration, in particularly wet AMD,” says Dr Abbott.

  Currently known risk factors for AMD include smoking status, diet, age and genetics.

  Dr Abbott says the team will need to conduct larger studies to better understand this association and, if validated, will explore whether treating sleep apnoea has a clinically meaningful impact on reducing progression to wet AMD.

  The work is part of the wider Synergy High Risk AMD Study, which is investigating macular degeneration and the potential underlying causes that make some people more likely to lose their vision.

  Read the research

  Attiqa Chaudhary, Carla J Abbott, Zhichao Wu, Wendy Y Fang, Palaniraj R Raj, Matthew Naughton, Wilson J Heriot, Robyn H Guymer. Nocturnal hypoxia and age-related macular degeneration, Clinical and Experimental Ophthalmology, doi.org/10.1111/ceo.14428

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  Science & Research

  Synergy High Risk AMD Study

  A world-leading multidisciplinary research project, investigating age-related macular degeneration and the factors that make some people more likely to lose their vision.

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  Protecting sight to protect the mind

  A new report has named vision loss as a risk factor that could be modified to reduce the chance of developing dementia.

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• Precision medicine transforming treatment for corneal blindness

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  Precision medicine transforming treatment for corneal blindness

  CERA researchers have explored the potential of genetic analysis to transform how Fuchs’ endothelial dystrophy is diagnosed and treated, with the hope of improving future outcomes for patients.

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  Imagine if treatment for your eye condition was tailored to your individual genetic makeup, not what works for most patients. This is the potential of precision medicine, a field that is transforming healthcare.

  CERA Research Fellow Dr Gink Yang is a passionate advocate for precision medicine in ophthalmology. He’s been exploring how it can be used in the diagnosis and management of Fuchs’ endothelial dystrophy, paving the way for targeted treatment based on a patient’s unique genetic profile.

  Challenges in diagnosing Fuchs endothelial dystrophy

  Fuch’s endothelial dystrophy affects the cornea, at the front of the eye. The cells that line the cornea gradually die, causing fluid buildup and blurred vision. If untreated, it can lead to blindness. The disease affects one in 25 Australians over 40 and is the most common reason for corneal transplants in developed nations.

  Symptoms and disease progression vary widely between patients, and the disease can be caused by different genetic mutations – sometimes appearing with no family history.

  While genetics are at the core of the disease and its progression, it is not diagnosed through genetic analysis but through clinical observations like visual acuity and corneal thickness.

  Dr Yang says: “With this data alone, ophthalmologists can’t know for sure whether their patient’s tissue is damaged to the point where they need a corneal transplant. They have to rely on their knowledge of what’s worked on other patients to determine if this procedure is suitable.”

  Dr Yang and his team have been investigating a more precise way to diagnose Fuch’s endothelial dystrophy: single-cell RNA sequencing. This technique examines gene expression in individual corneal cells, providing detailed insights into how far the disease has progressed.

  “This technology transforms diagnosis. It goes beyond observation and empirical evidence – it’s an informed approach,” says Dr Yang.

  

  Dr Gink Yang receiving the travel award from Professor Ula Jurkunas.

  A new decision-making tool

  In treating Fuch’s endothelial dystrophy, ophthalmologists must weigh the benefits of a corneal transplant against the risks and costs of surgery. Transplants restore vision by replacing damaged tissue with healthy donor corneas, but they also carry the risk of complications such as tissue rejection or infection and rely on the availability of donor tissue.

  A newer procedure, Descemet stripping without endothelial keratoplasty (DWEK), allows the eye to heal itself. In this procedure, the surgeon removes damaged cells at the back of the cornea without replacing them. If enough healthy cells remain, they can regenerate the tissue and restore vision without needing a donor cornea.

  Single-cell RNA sequencing may provide clinicians with a clearer answer to which patients are best suited for DWEK and which need a transplant.

  “Single-cell RNA sequencing can show, for example, that 80 per cent of the cells in a person’s cornea are expressing genes that will lead to the disease. In this case, a transplant is likely the best option,” says Dr Yang.

  “Or the data may show that only 20 per cent of the cells are expressing these devastating gene signatures, meaning 80 per cent of the cells are healthy. So a clinician may opt for the DWEK procedure.”

  “This tool will guide clinicians to make the best decisions for their patients,” he says.

  

  Associate Professor Elaine Chong leads a trial of DWEK surgery.

  The path to the clinic

  Associate Professor Elaine Chong and Dr Elsie Chan are leading a clinical trial to evaluate the suitability of DWEK in approximately 20 Fuch’s endothelial dystrophy patients who would normally be offered a corneal transplant. Their study also looks at the success rate of the procedure in eligible patients.

  While their trial doesn’t use single-cell RNA sequencing to determine who should be included, Associate Professor Chong – who also contributed to Dr Yang’s study – sees the potential of this technology.

  “The success rate of DWEK in the published literature varies from 70-95 per cent, but patients that were included in these studies were extremely variable,” says Associate Professor Chong.

  “That’s why Dr Yang’s study is important as it can help us identify who might be the better candidates for this procedure.”

  While single-cell RNA sequencing is a promising diagnostic and decision-making tool for Fuch’s endothelial dystrophy, it needs regulatory approval before it can be used clinically. Cost is another barrier, but Dr Yang is optimistic that this will decrease as the technology matures.

  “In 2015, traditional RNA sequencing cost $2000-$3000 per analysis – today it costs $400,” he says.

  “Technology is progressing exponentially. In five years, we could potentially be using single-cell RNA sequencing in the clinic at a fraction of the cost.”

  Shaping the future of precision medicine

  With precision medicine still relatively new in ophthalmology, Dr Yang’s work is attracting international attention for its potential to bring targeted treatments to patients.

  He recently received a Travel Award from Mass Eye and Ear (Harvard University) to present his research at their 2024 biennial conference in Lisbon. Here, his work received recognition from world-leading experts such as Professor Ula Jurkunas from Harvard, who is now supporting Dr Yang on the next stage of his research.

  “While I’m promoting precision medicine for ophthalmology, there are others promoting single-cell RNA sequencing for diseases that affect other parts of the body, like the brain or liver. We’re all very passionate about using the best diagnostic tool for patients,” says Dr Yang.

  “It’s all about mitigating the risk of patient suffering. If a patient needs a transplant, we want to make sure the person absolutely needs it. If the person doesn’t need it, let’s allow the body to regenerate.”

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  Eye conditions

  Fuchs’ endothelial dystrophy

  In Fuchs’ endothelial dystrophy, the cornea of the eye becomes cloudy over time. This causes blurred or hazy vision that progressively worsens.

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  OCT scans in optometry could boost glaucoma detection

  A study of one million patient records shows routine use of OCT scanners in optometry could boost glaucoma detection and reduce undiagnosed cases in the community.

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• 2024 Gerard Crock Lecture: Professor Jean Bennett

  Video

  2024 Gerard Crock Lecture: Professor Jean Bennett

  Watch Professor Jean Bennett present the 15th Gerard Crock Lecture on pioneering treatments for blinding retinal disorders.

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  Watch pioneering ocular gene therapy researcher Professor Jean Bennett present an enlightening presentation about the sight-saving potential of gene therapy at the 15th annual Gerard Crock Lecture.

  The Gerard Crock Lecture series honours the memory of renowned ophthalmologist, the late Professor Gerard Crock, inaugural Ringland Anderson Professor of Ophthalmology at the University of Melbourne.

  Professor Bennett is an international authority on the development of gene therapies to treat inherited retinal diseases, which are the most common cause of blindness in working-age people.

  She has received numerous international awards including the prestigious Champalimaud Vision Award.

  Professor Bennett shares her story leading pivotal research that led to the development of the world’s first approved ocular gene therapy – Luxturna, a treatment for a rare genetic form of childhood blindness Leber Congenital Amaurosis.

  Meet our presenter

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  About

  Professor Jean Bennett

  Professor Bennett is an international authority on the development of gene therapies to treat inherited retinal diseases, which are the most common cause of blindness in working-age people.

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• Watch the Community Forum and Mini Vision Expo

  Video

  Watch the Community Forum and Mini Vision Expo

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  On October 4, our community came together to celebrate the launch of our Consumer Advisory Group and engage directly with the science that’s shaping tomorrow’s treatments.

  Watch the recording to discover how your involvement can influence the future of eye research. You’ll also hear from our researchers about the latest advancements in vision science and meet our friends from Vision Australia and Guide Dogs Victoria.

  Hear from experts:

  • • CERA Board Director and Chair of the CERA Consumer Advisory Group Simon Brewin
    • Cerulea Clinical Trials Chief Executive Officer Michelle Gallaher
    • Retinal Gene Therapy Unit Principal Research Fellow Associate Professor Lauren Ayton

   

  Hosted by Glaucoma Research Fellow Dr Flora Hui.

  Meet our presenters

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  People

  Simon Brewin

  Simon Brewin is an experienced non-executive director with expertise in governance, infrastructure and project management. He was appointed to the Royal Victorian Eye and Ear Hospital board in 2017 and is Deputy Chair of the Audit and Risk Committee and member of the Quality & Safety Committee.

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  People

  Michelle Gallaher

  Michelle Gallaher is an award-winning thought leader, speaker, advocate and health technology entrepreneur. She has established four startups, including Trialkey which applies artificial intelligence to improving and predicting clinical trial results.

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  People

  Associate Professor Lauren Ayton

  Associate Professor Lauren Ayton is a member of CERA’s Executive team and co-leads the Retinal Gene Therapy Unit and VENTURE inherited retinal diseases (IRD) registry with Dr Tom Edwards. She is also the Head of the Vision Optimisation Unit at the University of Melbourne.

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  People

  Dr Flora Hui

  Dr Flora Hui is a clinician scientist with a research interest innovative methods to improve patient outcomes in optometry and ophthalmology and neuroprotectants for treating glaucoma.

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• New research funding to improve outcomes for women

  News

  New research funding to improve outcomes for women

  CERA’s world-leading research into female carriers of X-linked inherited retinal diseases has been given a vital funding boost thanks to The Felton Bequest.

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  CERA has received $300,000 over three years from The Felton Bequest to advance our groundbreaking research on female carriers of X-linked inherited retinal diseases (IRDs).

  With this funding, Dr Sena Gocuk will lead two new research projects with the support of CERA Principal Investigators Associate Professor Lauren Ayton and Dr Thomas Edwards.

  The first study aims to establish a clinical test to identify a carrier’s risk of severe vision loss, and the other will investigate the safety and efficacy of gene therapy in these women.

  “Treatment at this stage is focused on males with X-linked conditions. What we’re trying to find out is whether the treatment available for men in current clinical trials will work on women as well,” says Dr Gocuk.

  “I’m so honoured that we’ve received this support from The Felton Bequest. It allows us to explore the questions that remain unanswered for women living with these eye diseases.”

  Understanding female carriers of X-linked IRDs

  IRDs are a broad group of eye conditions that result from a change or ‘mutation’ in one or more genes. X-linked IRDs, such as choroideremia and X-linked retinitis pigmentosa, are caused by a gene mutation on the X chromosome.

  Males, who have both an X and a Y chromosome, will develop the disease if their X chromosome carries the mutated gene. This typically results in severe vision impairment.

  Female carriers of X-linked IRDs also have the mutated gene on their X chromosome. But because they have two X chromosomes – one mutated and one healthy – the disease affects them differently.

  “The term ‘carrier’ implies they only carry the mutated gene to pass it on to their son. But we now know that carriers can experience vision loss, and some are even as severely affected as males,” says Dr Gocuk.

  Dr Gocuk’s previous research has shown that disease severity in female carriers depends on how much of each X chromosome is being expressed.

  If most of the cells in the retina are expressing the mutated gene, they will have severe retinal disease. If cells are mostly expressing the normal gene, then they’re relatively unaffected.

  Dr Gocuk and her team are now building on this knowledge to explore how female carriers can be better diagnosed and whether they are suitable candidates for emerging treatment options.

  

  Better access: Dr Sena Gocuk ultimately wants to ensure female carriers of X-linked IRDs can access potential treatments.

  Getting female carriers into clinical trials

  Currently, there are no approved treatments for X-linked IRDs. However, gene therapy – which replaces a defective gene with a healthy copy – is a promising option.

  While there are clinical trials for X-linked IRDs currently underway, women are usually excluded because there is no safety data on the effect of gene therapy in female carriers.

  “Males with X-linked conditions don’t have a functional gene so gene therapy just replaces the gene that’s missing. But in women, we need to understand how an introduced gene will interact with the existing ones,” says Dr Gocuk.

  To investigate this, Dr Gocuk and her team are collaborating with Head of Genetic Engineering Research Associate Professor Guei-Sheung (Rick) Liu and Dr Livia dos Santos Carvalho from the University of Melbourne – experts in preclinical models for IRDs.

  Initial studies will explore the effects of gene therapy using cells that mimic the genetic profile of carriers. Once they understand what’s happening at a cellular level, they will use mouse models to assess whether gene therapy can slow disease progression.

  “We’re hoping this lab work will give us a clearer idea of whether there are any implications or toxic effects of having that gene introduced, and therefore, whether it is feasible for female carriers to be included in future gene therapy trials,” says Dr Gocuk.

  Greater certainty for female carriers

  The research also aims to develop a saliva or cheek swab test for female carriers that shows how the genes are being expressed between the two X chromosomes. This will offer insights into their disease severity and how it is likely to progress over time.

  Through a collaboration with Dr Quentin Gouil and Professor Marnie Blewitt at the Walter Eliza Hall Institute (WEHI), the team is using readily available peripheral DNA in saliva, cheek swabs and blood to determine which sample gives the best indication of what’s happening in the retina.

  “I’m hoping this data will help us develop a very simple lab test to guide carriers on what they can expect – whether they will remain on a mild trajectory of retinal disease or progress to severe retinal degeneration,” says Dr Gocuk.

  “This information would be very valuable for the many carriers we know feel anxious about their own vision.”

  Advocating for equality

  Dr Gocuk’s research is motivated by her desire to ensure female carriers have access to the same support and treatment opportunities as men with X-linked IRDs.

  “Once I understood the issues carriers were facing, like being dismissed, misdiagnosed or diagnosed too late, I saw there was a need to advocate for these women.”

  “I became very passionate about raising awareness that carriers can be affected, as well as helping clinicians to better support them,” she says.

  “There’s definitely a growing interest in female carriers, but we need the time and resources to do these research projects. Funding from The Felton Bequest helps us achieve that, and we sincerely thank them for the support.”

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  Research

  Understanding inherited retinal diseases

  New research is revealing more about female carriers of inherited retinal disease. And its findings are challenging the long-held idea they don’t experience vision symptoms as severely as males do.

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  Women at risk of passing vision loss to their children lack support

  A global survey of female carriers of genetic eye diseases has shown a lack of counselling and support for women at risk of passing the conditions onto their children.

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• A research scholarship says thank you for a lifetime of care

  Stories

  A research scholarship says thank you for a lifetime of care

  Melbourne woman Shelley Kline has raised more than $500,000 for research into eye disease as a tribute to the iconic Professor Frank Billson. CERA researchers are among those benefitting from the generous scholarship.

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  Shelley Kline has spent four decades dealing with pain, medication, and traumatic procedures for her eye disease. She knows research is the key to better treatment and care for children and young people today.

  Shelley, now 52, was diagnosed at the age of eight with uveitis, a form of eye inflammation that affects the middle layer of tissue in the eye wall. Uveitis is the term used to describe a broad number of inflammatory diseases that produce eye swelling and redness and destroy eye tissue.

  In Shelley’s case, the disease led to extreme pain and, eventually, enucleation (removal of the eye globe) of her right eye in 2018.

  “As a child, I remember my mother crying when my Melbourne doctor told us about my condition and what might lie ahead,” Shelley said.

  Soon after the diagnosis, Shelley and her parents met Professor Frank Billson, or ‘Prof’ as she refers to him, one of the only specialists in Australia with expertise on uveitis.

  Prof Billson AO, who is now in his nineties, had a distinguished career in ophthalmology, which began in Melbourne. He was the Director of the Ophthalmology Department for seven years at the Royal Children’s Hospital (RCH) before moving to Sydney.

  Shelley and her family regularly travelled to the Sydney Eye and Ear Hospital where Prof Billson was working, for treatment.

  “My parents and I just fell in love with him because he had such a beautiful bedside manner,” Shelley says. “He always asked how I was going at school, if I had good friends, and if I enjoyed sport – he was interested in all elements of my life and family.”

  

  Shelley was eight when she first met Professor Billson.

  Throughout her life, Shelley has needed frequent visits to ophthalmologists, and in her school years she would visit a doctor weekly to manage the inflammation and check for signs of glaucoma. 

  After leaving school, Shelley completed Arts and Social Work degrees before living in Israel for several years. She returned to Australia when her condition worsened and she needed the support of her parents, who dedicated themselves to her treatment and care. 

  Back in Melbourne, Shelley married and had three children and underwent numerous procedures, as well as treatment with steroids and medication for her uveitis and related conditions glaucoma, corneal edema, and juvenile rheumatoid arthritis. 

   In 2018, no more could be done for her right eye. With the guidance of Prof Billson, who she consulted on major treatment decisions, Shelley made the difficult call to have the eye removed. 

  “The eye wasn’t functioning properly, it was almost blind, and I could no longer manage the pain,” said Shelley.  “Throughout my whole life, whenever there have been complicated decisions to make about my eye, Prof always took the time to research, empathise, be compassionate, and supportive. 

  “I still wake up in pain every day, but research is key. If we knew now then what we know now, things would have been different for me.” 

  Professor Billson’s care and kindness over more than four decades was so significant that Shelley has now established the Professor Frank Billson Research Scholarship. It provides funding for a staff member within the Ophthalmology department at the RCH.  Dr Sandra Staffieri AO, who is a Research Fellow at CERA and the Retinoblastoma Care Co-ordinator/Senior Clinical Orthoptist at the hospital, was one of the inaugural recipients. 

  “Securing research funding is highly competitive and even more so when the disease is rare and the impact of the outcomes of the research will affect so few people,” she said. “It was validating to be reassured that even patients with a rare condition were important, and I am so proud to have been able to be part of this work.” 

  CERA Managing Director Professor Keith Martin said Shelley’s establishment of the research scholarship was a significant contribution to building knowledge in the field. 

  “Professor Billson is an extraordinary person who continues to make a different to countless children and their families over many years,” he said. “CERA is grateful that our researchers can also benefit from the scholarship.” 

  Shelley is excited about future research into children’s eye disease. 

  “I love meeting and talking to people and telling them about Professor Billson and the impact he has had on my life, and many others,” she said. 

  “It was so wonderful to take my husband Adam Joel and my three beautiful children to meet Prof a few years ago to show him that, despite everything, look what I have created. 

  “This scholarship honours Prof’s legacy to medicine forever and will help children for generations to come.”

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  Science and Research

  Uveitis and Retinal Vascular disease research

  Our researchers are devoted to investigating new treatments for this painful and blinding inflammatory eye condition, as well as advancing our scientific understanding of its causes and prognosis.

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  Fundraise for CERA

  Here are a few ways you can help support our world-leading research through fundraising.

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• New research shows potential of gene therapy to replace regular eye injections

  Research

  Research shows gene therapy’s potential to replace eye injections

  Australian scientists have successfully used an innovative gene therapy technique in the lab to combat a key cause of vision loss in ‘wet’ age-related macular degeneration and diabetic eye disease.

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  Their research, published in the Proceedings of the National Academy of Sciences, highlights the potential of gene therapy to provide a new alternative treatment to regular eye injections.

  The pre-clinical research was led by Satheesh Kumar and Associate Professor Guei-Sheung (Rick) Liu from the Centre for Eye Research Australia (CERA) and University of Melbourne, along with scientists from the University of Sydney, Children’s Medical Research Institute, University of Western Australia and Zhongshan City People’s Hospital, China.

  The researchers for the first time used an RNA editing tool – known as CRISPR Cas13 – to suppress the production of Vascular Endothelial Growth Factor (VEGF) in human retinal cells.

  VEGF is a protein that causes abnormal leaky blood vessels to grow in the retina at the back of the eye – and is the key driver of vision loss in diseases such as ‘wet’ age-related macular degeneration and diabetic retinopathy that affect 200 million people worldwide.

  Associate Professor Liu said the new research demonstrated the potential to develop a gene therapy using CRISPR Cas13 to control VEGF in the retina.

  “Our study shows the potential of RNA editing to develop gene therapies that offer an alternative treatment to the invasive, frequent eye injections that are currently used to treat wet macular degeneration and diabetic eye disease,’’ he said.

  

  Associate Professor Guei-Sheung (Rick) Liu is developing an alternative to regular eye injections.

  The experiment targeted the mRNA sequence that instructs cells to produce VEGF. It delivered the RNA editing tool via an AAV viral vector and was tested on a mouse model and human retinal cells derived from stem cells.

  It showed that the viral vector was effective in delivering the treatment to retinal cells and produced a significant reduction in VEGF, and a slowing of disease progression in the mouse model.

  Satheesh Kumar said this research informs future work to develop a more tailored approach to delivering gene therapies to patients.

  “RNA editing enables us to change the genetic instructions that influence the way cells behave without permanently altering their DNA,’’ he said. “This could allow treatments to be adjusted over time, depending on clinical need.”

  Associate Professor Liu said the research aims to make a difference for people with eye disease who face the prospect of having eye injections every six to 12 weeks for the rest of their lives.

  “Although this research is in the early discovery stages and requires further development before transitioning to clinical trials, we envision that RNA editing could become a viable alternative to invasive and costly eye injections that have become a fact of life for many people living with wet macular degeneration or diabetic eye disease.’’

  Read the study

  Satheesh Kumar, Yi-Wen Hsiao, Vickie H Y Wong, Deborah Aubin, Jiang-Hui Wang, Leszek Lisowski, Elizabeth P Rakoczy, Fan Li, Luis Alarcon-Martinez, Anai Gonzalez-Cordero, Bang V Bui, Guei-Sheung Liu. Characterisation of RNA editing and gene therapy with a compact CRISPR-Cas13 in the retina, Proceedings of the National Academy of Science doi/10.1073/pnas.2408345121

  Media contact

  Janine Sim-Jones, Centre for Eye Research Australia, jsimjones@cera.org.au, 0420 886 511

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  Preventing blindness at its source

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• New consumer group to shape future of eye research

  News

  New consumer group to shape future of eye research

  CERA’s Consumer Advisory Group will bring the voices of consumers into the heart of vision research.

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  A new Consumer Advisory Group has been appointed to help shape the direction of research at the Centre for Eye Research Australia and Cerulea Clinical Trials.

  The group will bring the voices of consumers—people living with eye conditions and their families—into the heart of medical research and strategic planning.

  The Group’s Chair, CERA Board Director Simon Brewin said the new initiative ensures that consumer insights directly shape research priorities, development of new treatments for eye disease and the overall direction of CERA and its fully owned clinical trials subsidiary Cerulea Clinical Trials.

  “This is a turning point for CERA. Involving consumers directly in our research isn’t just the right thing to do—it’s going to make our work more impactful,’’ he said.

  “These are the voices that matter most, and we’re making sure they guide our research.”

  The group includes independent consumers – Jane Cherry, Dr Colleen Lewis, Dr Ronelle Hutchinson and Daniel Talko –

  along with advocates from organisations like Vision Australia, CERA researchers, and Cerulea Clinical Trials representatives.

  The initiative is led by CERA’s Consumer Involvement and Advocacy Lead Kelly Schulz.

  “The strength of this group lies in the diversity of perspectives and lived experiences each member brings,’’ she said. “This advisory group marks the starting point for CERA’s broader Consumer Program, laying the foundation for meaningful, long-term involvement of consumers in our research and strategy.“

  The group will provide advice on various aspects of CERA and Cerulea’s work, from early research design and clinical trial experience to the rollout of results. This collaboration will help ensure that CERA’s research is both practical and responsive to the needs of the community.

  CERA Managing Director Professor Keith Martin said involving consumers directly in research was a powerful step forward.

  “Their insights will help ensure our work has real-world impact, benefiting those who need it most,’’ he said. “The launch of the Consumer Advisory Group marks an important step forward for CERA as it continues to advance eye research. By embedding consumer perspectives, CERA is strengthening its commitment to more inclusive, community-driven research—working alongside other organisations that share this goal.”

  • Media contact: Janine Sim-Jones, CERA, jsimjones@cera.org.au +61 420 886 511

  

  Myra McGuinness, Daniel Talko, Kelly Schulz, Luis Alarcon-Martinez, Flora Hui, Chris Edwards, Ronelle Hutchinson, Jane Cherry, Colleen Lewis, Simon Brewin and Michelle Gallaher.

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  Help shape vision research

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  Annual Review 2023

  Building a consumer conscience

  Consumer Involvement and Advocacy Lead Kelly Schulz is creating new ways for CERA’s community to directly influence and improve research at every stage from the laboratory to the clinic and beyond. 

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• Preventing blindness at its source

  Research

  Preventing blindness at its source

  Researchers at CERA are working to expand gene therapy technology to increase the number of treatments for blindness-causing genetic disorders.

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  In recent years, breakthroughs in genetic research have opened the door to treating inherited retinal diseases (IRDs), such as retinitis pigmentosa, Usher syndrome and Stargardt’s disease.

  Only a few years ago, being diagnosed with one of these IRDs meant a gradual loss of vision was all but a certainty, but treatments for these diseases are now on the horizon.

  One gene therapy is now available for a rare form of retinitis pigmentosa, and treatments are being developed for a range of other conditions.

  Collectively, IRDs are the most common cause of blindness in working-age Australians. But despite sharing a name, the genetic mistakes that cause each IRD are different. A treatment that works for one of the 250 genes known to cause IRDs will not work for another.

  Satheesh Kumar is a graduate researcher in CERA’s Genetic Engineering Research Unit. He is working with Associate Professor Guei-Sheung (Rick) Liu to develop new ways of treating disease that would mean more treatments for different IRDs.

  Editing vs replacing

  A person’s DNA includes all the instructions that cells need to operate – and mistakes in this sequence are what cause a person’s body to not operate properly.

  In the case of IRDs, this means vision loss.

  “Before starting my PhD, I was an honors student in Queensland and became interested in gene editing, because there are now a lot of new technologies that are trying to treat genetic diseases,” Kumar says.

  These tools are safe viruses which carry a correct version of the gene, but they aren’t suitable for every type of disease.

  “In traditional gene therapy, a new gene is introduced without fixing the root cause,” Kumar says.

  “The mutated gene is still in the cell, which can sometimes be harmful. And for a lot of IRDs, the tools we have just aren’t suitable.”

  The Genetic Engineering team is using a technology called RNA base editing to try and correct these mistakes instead.

  While DNA is the instruction booklet for cells to function, it is RNA that carries out these instructions by transmitting their message to build the different parts of our cells.

  “Gene editing that targets RNA enables us to directly correct the mistake causing the disease,” Kumar says.

  “We aim to correct the genetic errors responsible for these diseases at the molecular level, which could lead to new treatments in the future.”

  “We aim to correct the genetic errors responsible for these diseases at the molecular level.”

  – Graduate researcher Satheesh Kumar

  To the clinic

  Kumar is hopeful that IRDs once believed to be untreatable will eventually have therapies, thanks to improved understanding of the genetic causes and better tools to produce working genes.

  “At CERA, when we do research, we are always asking ‘how do we turn this into a tool for the clinic?’

  “When I’m working with Associate Professor Liu, we want to dive deeper into our understanding of these tools – and alongside many other people around the world we are constantly learning new things about them.

  “Learning more about the basic mechanisms of these tools means we can improve them, so they can be useful for even more diseases.”

  The team’s work requires significant collaborations with others.

  “Associate Professor Liu and I work with a lot of collaborators to make sure these tools are clinically relevant – especially as some of these tools might also be helpful not just for vison loss but also for hearing loss,” he says.

  “I’m excited about the new treatments for many conditions that our research is working towards.”

  Associate Professor Liu’s RNA editing research is supported by an NHMRC Ideas Grant.

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  Genetic engineering research

  CERA scientists are investigating ways advanced gene technology can improve the treatment of eye diseases that cause blindness.

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• Community impact

  Stories

  Community impact

  Keith Teirney, 74, lives with glaucoma, leads an active life and supports CERA through community fundraising.

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  “I was diagnosed with glaucoma about 20 years ago,” Keith says.

  “Fortunately, I found out early and it doesn’t affect my daily life. I just have to remember to put my eye drops in every night.”

  Glaucoma, the leading cause of irreversible blindness, causes optic nerve damage.

  There is currently no cure, but prescription eye drops, laser therapy and surgery can help slow or stop vision loss.

  CERA’s researchers are investigating how glaucoma can be better treated.

  Just two examples include Professor Keith Martin’s research into gene therapies that aim to protect the optic nerve, and Dr Flora Hui’s research to determine whether vitamin B3 (nicotinamide) can support glaucoma treatments.

  Community minded

  In March, Keith attended CERA’s community forum to learn about the latest research and treatments being trialled for glaucoma.

  “It was also a great chance to talk to others with glaucoma about how they were coping,” he says.

  Afterward, Keith recommended that proceeds from local fundraising activities at Carnegie Lions Club and Malvern Theatre Company go to CERA.

  Professor Martin says CERA is grateful for their support.

  “Community fundraising, alongside individual donations, plays a critical role in enabling us to advance our research.”

  Learn more about our community forums and register for our upcoming events.

  Related Pages

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  Spring 2024

  Visionary magazine

  In our latest edition, we spotlight the strides being made in the lab and through clinical trials – all possible through the power of teamwork.

  Read More

  Science and research

  Glaucoma research

  Our researchers are among the world’s top scientists investigating the causes of glaucoma and how it can be better treated. We collaborate across research areas including gene therapy, mitochondrial research and clinical genetics.

  Read More