The Stem Cell Medicine Group at Children's Medical Research Institute has been awarded $2.5m from the Medical Research Future Fund to produce stem cells that can be used to create Australia’s first cell therapies to treat vision loss in people with inherited diseases of the retina.

The results of the study could be extended further and provide hope for patients with other (non-retinal) blinding eye conditions.

Led by Dr Anai Gonzalez Cordero, the Stem Cell Medicine Group’s work involves transforming small samples of skin or blood into stem cells – these are a form of early cell in human development that can turn into any cell type in the body.

Her team is then able to ‘instruct’ these lab-derived stem cells (also known as induced pluripotent stem cells or iPSCs) to turn into specific cell types, e.g., cells of the brain, heart, or retina (eye) and to form into miniature organs, called “organoids.”

The laboratory-generated organoids are invaluable for studying the causes of human diseases and for developing and testing new treatments.

In the newly funded project, Dr Gonzalez Cordero and her team will work with collaborators from Melbourne’s Murdoch Children’s Research Institute, to produce Australia’s first Good Manufacturing Practice (GMP)-compatible bank of iPSC lines. This means the cell lines would be of the high quality required for therapeutic use in humans.

Dr Gonzalez Cordero will use the iPSCs to generate retinal organoids under GMP-like conditions. These mini retinas become the source of cells that can then be extracted and developed further and used in the future with the aim of restoring eyesight in patients with blinding retinal diseases.

Essentially, these high-quality iPSC lines will become a “bank” - an unlimited source of healthy cells available to researchers around Australia who have appropriate ethical approvals to study methods for treating diseases via transplantation of the healthy cells into diseased tissue. This is known as cell replacement therapy – or regenerative medicine – and could extend to diseases well beyond those of the eye.

“Our team is excited to be the first to develop these cell lines in Australia, to offer to researchers but also, most importantly, for the ultimate benefit of patients,’’ Dr Gonzalez Cordero said. “We want to provide the same opportunities to Australians that are available in a few places overseas.’’ Millions of people worldwide live with severe degenerative diseases of the eye that lead to progressive vision loss and eventually total blindness. The majority of these diseases are currently untreatable.

“Cell transplantation with healthy cells holds great promise because this therapy can be applied irrespective of the underlying cause – be it genetic or a disease that is acquired, say due to injury to the eye,’’ Dr Gonzalez Cordero said. “If we can produce GMP-quality retinal cells, these cells can be used to replenish those lost during disease and hopefully contribute to the restoration of vision.’’

The research team would like to see these iPSC-derived cell therapies used in many conditions of the eye, including glaucoma, age-related macular degeneration, and inherited retinal diseases. While this project targets the eye as a proof-of-concept, the GMP-iPSC lines can be used in similar studies in the brain and other organs, by providing a source of healthy cells to treat disease.

Dr Gonzalez Cordero emphasised the collaborative and multidisciplinary nature of the project, which includes many other teams, both across CMRI and other institutions – with the intent to eventually engineer the large-scale production of these organoids.

An important aspect of the project will involve working with clinicians from the University of Sydney’s Save Sight Institute and UNSW’s Behavioural Sciences Unit, to study patients’ perceptions of the use of stem cells as treatments. “It is always on my radar to involve patients and consider their needs from the start,’’ Dr Gonzalez Cordero said. “It informs my research, and it informs the patients about the research. We want to know how they feel about the prospect of these treatments, and to obtain their input into the design of future clinical trials.’’