Finding cures for children's genetic diseases

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Genetic Eye Clinic marks 30 years

25/Sep/2020  
The establishment of a genetic eye clinic in Sydney three decades ago was a visionary step in maximising care for patients and families with genetic eye diseases. Besides delivering much-needed services, it has since facilitated the provision of genomic testing for improved diagnoses and is on track towards new genetic therapies to provide patients with the best treatment possible.
This year, the Genetic Eye Clinic at The Children’s Hospital at Westmead celebrates 30 years since its inception. To mark this milestone, we’re taking a trip down memory lane to where it all began.

1990: Genetic Eye Clinic established
In April 1990, the multidisciplinary clinic was established by our very own Ophthalmologist Dr Maree Flaherty along with Clinical Geneticist Dr John Nelson and Genetic Counsellor Meryl Smith (both of whom are now retired) at Westmead (adult) Hospital. A Genetic Eye Clinic was also set up at The Children’s Hospital at Camperdown in 1992 by Professors Frank Martin and David Sillence.

1995: Paediatric services moved to The Children’s Hospital at Westmead
In 1995, the paediatric services at Westmead Hospital were transferred to the new Children’s Hospital at Westmead and combined with the ophthalmic component led by Dr Flaherty, and genetic component led by Dr Meredith Wilson and other clinical geneticists. In 2002, Professor Robyn Jamieson returned from study overseas to take over the genetic component of the clinic, which she continues to manage today.
Over the years, the clinic has grown to include Orthoptists, Ophthalmic Registrars, Genetic Fellows and Genetic Counsellors, all of whom contribute greatly to its operations.



2003: Breakthrough in genomics, plus Eye Genetics Research program commenced
Mapping of the whole Human Genome in 2003 (the identification of a large number of genes, many of which have sight implications) transformed the clinic’s ability to participate in a research program targeted towards new genomic diagnostics and therapies.
“I recall in the early days that when patients would ask me if there was any treatment for their retinal conditions, I’d reply that it was unlikely I would see it in my lifetime. However, with the rapid advances in genetics, particularly over the last 20 years – and especially the last 10 years – treatment for multiple retinal conditions is now a real possibility,” said Dr Flaherty.
In 2003, the Eye Genetics Research program began, headed by Professor Robyn Jamieson. This was a collaborative research program of The Children’s Hospital at Westmead, Children’s Medical Research Institute (CMRI), Save Sight Institute, Sydney Eye Hospital and the University of Sydney. This research program set out to establish the building blocks required for the clinical genetic, ophthalmic and basic science prerequisites for developing genomic diagnostics, new understanding of disease mechanisms and new therapies for patients with genetic eye diseases.

2008: Eye Genetics Research team builds on new genomic knowledge
The Eye Genetics Research team at CMRI was one of the first to build on new genomic knowledge to find previously unknown causes of genetic eye diseases. This work followed on from Professor Jamieson’s experience in identification and characterisation of the novel disease gene MAF during her postdoctoral studies in the UK. Additional studies on MAF by the Eye Genetics Research team in collaboration with the clinic over the years, identified MAF as a leading cause of genetic eye diseases in children.

2013: Clinic and research teams collaborate at the vanguard of new diagnoses
Our genomic and basic science research approaches through the Eye Genetics Research team at CMRI and our work at the Genetic Eye clinic led the way in research in genomic diagnoses. Several publications including those in the European Journal of Human Genetics, Human Mutation, Human Molecular Genetics and more recently Genetics in Medicine, provided diagnostic answers for local, Australian and international patients and families that were not previously possible.



2016: Genetic Eye Clinic marks one of its biggest successes
Building on the research studies, one of the clinic’s biggest successes is the Australian-first of translation of research genomic testing for genetic eye diseases to clinical diagnostic testing, available for all Australians. This meant that patients with genetic eye diseases could be offered genomic testing in the clinical setting. This would provide new diagnostic certainty, as well as prognostic and family information. As we head to a new era of genetic therapies for these conditions, attaining genetic diagnoses for patients is critical particularly as patients are required to have a genetic diagnosis to be eligible for most new clinical trials or therapies.
“This was an incredibly exciting time, to be able to provide genetic diagnoses where none were previously available, and to know that this would open up the prospect for patients to potentially benefit from new therapies. What is even more exciting is that we are also now working with samples from some of our patients to improve the genetic diagnostic detection rate and develop  new therapies for some of these conditions,” said Professor Jamieson.
This incredible achievement was made possible through partnership with the Eye Genetics Research Unit (comprised of The Children’s Hospital at Westmead, Children’s Medical Research Institute, Save Sight Institute, Sydney Eye Hospital and the University of Sydney) and the Sydney Genome Diagnostics Laboratory within the Western Sydney Genetics Program at The Children’s Hospital at Westmead led by Clinical Professor Bruce Bennetts, Dr Greg Peters (now retired) and Dr Dale Wright. 

2019: Novel disease genes and new therapy approaches
The world-first identification of the novel retinal disease gene, ALPK1, by the Eye Genetics Research Unit and Genetic Eye Clinic, resulted from research studies, as well as collaboration with researchers across the globe for identification of additional affected families.
“We’re now using new model systems such as retinal organoids, or ‘mini eyes in a dish’, differentiated from human induced pluripotent stem cells, to investigate the function of retinal disease genes and develop new forms of genetic therapy,” said Professor Jamieson.

2020 and beyond
The clinic has recently been instrumental in identifying patients who are eligible for an important gene therapy treatment for retinal disease due to mutations in the RPE65 gene, and introduction of this therapy in Australia is expected imminently. The Eye Genetics Research Unit is developing new genetic therapies and, with the Genetic Eye Clinic, is undertaking clinical trials of new approaches. This provides the prospect of rescuing vision in the broader group of retinal dystrophies, and it is expected that the applications will expand as the years progress.
While the past 30 years have been profound, the clinic’s future looks even more promising with ongoing research and technology paving the way for improved methods of diagnosis and treatment.