Science and Research
VENTURE Study
Our objective is to understand the natural progression of inherited retinal diseases, research ways in which those living with IRDs can be better supported by clinicians and the community, and identify people who may be eligible for upcoming clinical trials.
Overview
New treatments are currently being developed for inherited retinal diseases (IRDs). This means researchers require a good understanding of the natural progression of these diseases to measure their success, as well as a database of people who may be suitable for upcoming clinical trials.
The Victorian evolution of inherited retinal diseases natural history registry (VENTURE study) is a collaboration between CERA and The University of Melbourne, which collects retrospective and prospective data from people with IRDs to drive research forward.
The VENTURE registry contains information from over 550 people, including details about their condition, genetic information and how their condition affects daily life. With their consent, VENTURE participants can be invited to join other research studies that arise. Over the past few years, these have included:
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- The prevalence of certain genes in the Australian population
- Knowledge and perceptions of gene therapy in people with IRDs in Australia and globally, as well as optometrists and ophthalmologists
- How X-linked IRDs affect female carriers both clinically and emotionally
- The support needs of families living with IRDs, such as Usher syndrome
- How common IRDs are in indigenous communities.
We are particularly interested in the genetics of IRDs. Recently, we completed a study investigating new genetic testing methods, funded by Illumina and The Advanced Genomics Collaboration (TAGC).
Why this research is important
IRDs are the most common cause of blindness among working-age Australians.
Less than a decade ago IRDs were considered to be untreatable.
However, in recent years, advances in genomic research have enabled more people to find out what is causing their vision loss. And rapid advances in gene therapy research and other innovative therapies are providing hope that new treatments will become available to stall vision loss and restore sight.
Understanding how these diseases progress will help identify people who might be suitable for new, emerging treatments, and measure the success of future clinical trials.
Key research questions
- Can we track the progression of people with an inherited retinal disease and identify biomarkers to be used in future clinical trials?
- Can we recruit for investigator-initiated research studies, including longitudinal
natural history studies and genotype/phenotype studies? - Can we identify people who may be eligible for upcoming industry-sponsored clinical trials?
VENTURE team
- Dr Ceecee Britten-Jones
- Dr Sena Gocuk
- Maria Kolic
- Elise Cichello
- Janise Hermawan
- Bhaj Grewal
- Parker Truong
- Justin Dennis
- Sumudu Amarasekera
- Sujani Thrimawithana
Contact
For more information, and to get in contact with the VENTURE team about the registry, please email: IRD@groups.unimelb.edu.au