WATCH: Advanced Therapeutics Webinar 8: A health system team approach to ocular gene therapy and vision rescue

In the 8th episode of our Advanced Therapeutics Webinar series we revisited the topic of ocular gene therapy with our biggest panel of speakers this year.

Since LUXTURNA’s success as a world-first gene replacement therapy for an RPE65-related retinal vision loss early last year, our researchers have made great strides in paving the way for the treatment of patients with all kinds of retinal dystrophies.

Hosted by Director of Research, Dr Paula Bray, our experts discussed the various aspects of the introduction of LUXTURNA as a life-changing therapy for an inherited blinding eye condition, including the science, eligibility process, treatment delivery, clinical outcomes and institutional impact.

Speakers

Professor Robyn Jamieson
	Robyn is a Professor of Genomic Medicine at the University of Sydney. She leads the Ocular Gene and Cell Therapies Australia team, which implemented the first delivery of publicly-funded ocular gene therapy in Australia, and continues to deliver the genomic, ophthalmic and multidisciplinary components for sustained delivery of this breakthrough for patients with inherited retinal disease (IRD). She leads the Eye Genetics Research Unit at Children’s Medical Research Institute (CMRI), Sydney Children’s Hospitals Network (SCHN) and Save Sight Institute, University of Sydney and heads the Western Sydney Genetics Program and Eye Genetics Clinic, SCHN. Her research demonstrates extensive experience in novel disease gene, variant and mechanism identification in model systems. Translation to clinical diagnostic ocular genomic testing at Sydney Genome Diagnostics has led to a state and nationwide available service and provision of eligibility for IRD patients to clinical trials and therapy.
Benjamin Nash
	Ben is a hospital scientist with 15 years’ experience working within the Cytogenetics and Molecular Genetics departments of Sydney Genome Diagnostics, The Children’s Hospital at Westmead (CHW). Ben is nearing completion of a part-time PhD with the University of Sydney and the Eye Genetics Research Unit, CMRI, investigating the application of genomics and functional genomic technologies in achieving a molecular diagnosis in the complex IRDs. In this project Ben has applied mini gene assays, human induced pluripotent stem cells derived retinal epithelial cell (hiPSC-RPE) RNA studies, whole genome sequencing (WGS) and other focused assays to provide genetic answers for families affected with IRDs. This work has resulted in the successful implementation of a panel-based sequencing approach to diagnostic testing for IRDs within the Molecular Genetics department, Sydney Genome Diagnostics, CHW.
Professor John Grigg
	John is Head of the Specialty of Clinical Ophthalmology and Eye Health, the University of Sydney's Save Sight Institute. He has clinical responsibilities at Sydney Eye Hospital and SCHN in inherited eye disease and glaucoma. This includes leading the clinical visual electrophysiology service at Sydney Eye Hospital and CHW. He is a member of the Eye genetics research group Save Sight Institute, CMRI and CHW. His main areas of research are in genetic eye disease and electrophysiology of the visual system. John is a Chief investigator on several NHMRC grants investigating new therapies for inherited retinal disorders. He has been the Postgraduate coursework coordinator for the Discipline of Ophthalmology since 2008. During this time, he has overseen the expansion of the postgraduate program including degree programs in ophthalmic basic science, international ophthalmology and in refractive surgery.
Bradley Rockliff
	Brad is a Clinical Pharmacist at The Children’s Hospital at Westmead (CHW) primarily working in Cardiology and Emergency Medicine. He began his career as a Paediatric Pharmacist at CHW in 2019 and has since completed several clinical rotations including surgical/orthopaedic, mental health, and oncology. Brad has a strong interest in Advanced Therapeutics and has experience in the manufacture and delivery of novel treatments such as LUXTURNA, Zolgensma and Bacteriophage therapies. Brad is currently completing a Masters of Clinical Pharmacy with a focus on acute kidney injury in solid organ transplant patients.
Emilie Chin
	Emilie is a Registered Nurse currently working at CHW as a circulating/instrument nurse in Operating Theatres. She started her perioperative nursing career at Kogarah Day Surgery for 3 years before moving on to specialise in paediatrics at CHW, where she has been working for a further 3 years. Emilie completed her Bachelor of Nursing at the University of Notre Dame and is currently working towards her Clinical Nurse Specialist role in Ophthalmology. Emilie is a facilitator in CHW’s Quality Improvement program, Essentials of Care. She has attained certification allowing her to work with Genetically Modified Organisms such as LUXTURNA. Emilie has a particular interest in the Clinical Nurse Educator role where she aims to educate and support her colleague’s clinical and professional development.
Associate Professor Matthew Simunovic
	Matthew is an eye surgeon specialising in surgery and diseases of the retina and vitreous in children and adults. His clinical training was undertaken in Australia, North America and the UK. He is a Fellow of the Royal Australian and New Zealand College of Ophthalmologists (FRANZCO) and has been elected to the Macula Society, USA. Matthew is a vitreoretinal surgeon at Sydney Eye Hospital and SCHN. He has held an academic appointment at the University of Oxford and currently holds an academic appointment at the University of Sydney. Matthew’s clinical practice focuses on vitreoretinal surgery, medical retinal disorders and cataract surgery (including sutured and sutureless scleral fixation techniques for intraocular lenses). In addition to caring for patients, Matthew is actively involved in research into emerging treatments for retinal disease and experimental vitreoretinal surgery and is supported in this work by a Career Development Award from the Foundation Fighting Blindness, USA.
Dr Alan Ma
	Alan is a clinician-researcher at CHW and holds a PhD in genomics, which he completed with the Eye Genetics Research Group, CMRI, looking at the genomics of inherited ocular disorders. He also sees patients in clinical genetics at SCHN, where he specialises in paediatric rare diseases, connective tissue disorders, and ocular genetics. He is part of the OcularGEN multidisciplinary team, providing state and nationwide expertise on ocular genomics to ophthalmologists and geneticists and patients around the nation. Alan is also a Research Translation Fellow with Sydney Health Partners, University of Sydney, utilising Implementation Science to facilitate the increased uptake of genomics into healthcare. He is a lecturer with the Specialty of Genomic Medicine, University of Sydney, where he helps run the Masters of Genomics and Precision Medicine.