World-leading researchers investigating stem cell therapies and RNA diagnostics have been awarded prestigious Australian Government Medical Research Future Fund grants.
The investment aids the continuation of research that has been previously supported by Luminesce Alliance funding.
The Stem Cell Medicine Group at the Children’s Medical Research Institute, led by Dr Anai Gonzalez Cordero, has been awarded $2.5 million to develop high-quality stem cells that will lay the foundation for Australia’s first cell therapies to treat vision loss in people with inherited diseases of the retina.
Dr Gonzalez Cordero’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. The work involves generating stem cell lines under laboratory conditions that are “clinical grade”. These will become a rich source of cells for studying cell replacement therapies for retinal and other diseases.
The research team also includes Professor Claire Wakefield, Director of the Behavioural Sciences Unit at the School of Clinical Medicine, UNSW Sydney and at Sydney Children’s Hospital, and Kate Hetherington, Clinical Psychologist and Post-Doctoral Research Fellow in the Behavioural Sciences Unit at the School of Clinical Medicine, UNSW — whose work investigates the psychosocial implications of precision medicine.
Watch Dr Gonzalez Cordero explain stem cell medicine:
Professor Sandra Cooper, Adjunct Research Scientist at CMRI and Co-Head and Scientific Director of Kids Neuroscience Centre at the Sydney Children’s Hospitals Network (Westmead) has been awarded $2.9 million to integrate RNA testing into mainstream clinical practice.
For many individuals with genetic diseases, it is still not possible to find the cause by sequencing the patient’s DNA, but for many of those undiagnosed patients the answer can be found by analysing the RNA. Professor Cooper’s project involves a nationwide collaboration between research centres, pathology labs and clinical genetic departments to embed RNA Diagnostics as a new option for clinical diagnostics.
The inaugural Zero Childhood Cancer (ZERO) National Symposium is being held from 26-27 October 2022 in Sydney, showcasing research and clinical innovation in paediatric cancer.
Bringing together leading national and international speakers at the cutting edge of childhood cancer research, the exciting two-day event is a unique opportunity for interdisciplinary exchange of progress and discoveries in the expansive field of paediatric oncology precision medicine.
The theme for the meeting ‘Towards Precision Oncology for All’ will emphasise recent developments in paediatric cancer research, with an array of exceptional speakers at varying career stages, covering different areas of our discipline.
The program includes two international plenary speakers and seven national invited speaker sessions, selected oral, rapid-fire and poster presentations, career and family perspective sessions and more.
The content will cover a broad range of topics, relevant to the field of paediatric cancer, including:
The theme was the intersection of research and industry the August 18-19 conference displayed the world-class research undertaken at Westmead – as well as nationally and internationally – from a scientific, industry, and government perspective.
[L-R: Anai Gonzalez-Cordero, Michelle O’Hara-Wright, Benjamin Lim, Leszek Lisowski]
Congratulations to Children’s Medical Research Institute’s Stem Cell team members PhD student Benjamin Lim who won Best Student Poster Prize and Michelle O’Hara-Wright who won Best Rising Star Presentation. Associate Professor Leszek Lisowski, and Dr Anai Gonzalez-Cordero, also presented their work at the conference.
New research aimed at developing ground-breaking treatments for children with rare diseases, cancers and neurodevelopmental disorders have been funded by Luminesce Alliance.
Investment of more than $300,000 in the three 12-month innovation projects as part of our precision medicine Enabling Platforms strategy, has the potential to revolutionise the understanding and treatment of conditions including blinding eye disease, Rett syndrome and hard to treat cancers.
“These innovative, collaborative research projects bring together experts working towards our mission of transforming the prevention and treatment of childhood illnesses,” said Luminesce Alliance Executive Director Anastasia Ioannou. “Collaboration is the cornerstone of Luminesce Alliance – our partners pool their collective expertise to provide the critical mass needed to work towards transforming paediatric research.”
Genetic drivers of Rett Syndrome
Associate Professor Wendy Gold, Head of the Molecular Neurobiology Research Laboratory at Kids Research will lead a study aimed at unlocking the mystery of the rare severe neurodevelopmental disorder Rett syndrome. Her team will use integrative approaches to investigate the disease drivers of the disorder, as well as improving methods of predicting its severity and responses to treatments.
Rett syndrome is a rare severe neurodevelopmental disorder, caused by variants in a gene known as MECP2. It causes babies to lose movement and communication and affects one in 10,000 children, mainly girls, including 430 in Australia. The syndrome is hard to diagnose and is often confused with autism or mitochondrial disease as girls with Rett syndrome have symptoms that overlap with characteristics of these disorders.
Researchers around the world are desperately looking for a treatment for Rett syndrome, but despite many clinical trials, there is no cure. One of the reasons clinical trials have failed is that no clinically useful biomarkers have been identified for Rett syndrome.
The new study – Integrative omics: A novel approach to unravelling the complex panoramic landscape – aims to identify disease drivers, drug targets and clinical biomarkers that can predict disease state, disease severity, and treatment efficacy.
A/Prof Gold said the ultimate aim is for clinicians to be able to test for these biomarkers to aid in the diagnosis, and for scientists and pharmaceutical companies to have a reliable measure of disease improvement in clinical trials.
Other investigators collaborating on this project include Dr Mark Graham, CMRI, Adviye Ayper Tolun, SCHN, Ashley Hertzog, SCHN, A/Prof Carolyn Ellaway, SCHN, Alexander Wykes, CMRI, Florencia Haase, SCHN, Dr Brain Gloss, WIMR.
New drugs to treat childhood cancers
A study looking speeding up and streamlining the discovery of new drugs to treat childhood cancers will be led by Associate Professor Paul Ekert who is group leader of Computational Biology at the Children’s Cancer Institute (CCI).
Outcomes for children with the most difficult-to-treat cancers remains dismal due to the lack of effective standard treatment options. Combining big data, computational strategies and novel experimental approaches in the laboratory, the project aims to identify molecular drivers of childhoods cancers, potentially leading to new treatments targeting specific genes.
This project will address a critical gap in this process by using computational biology methodologies to sift the vast amount of genetic information being generated about childhood cancers.
“Over the last four years, CCI has collected and profiled the genetic make-up of over 500 high-risk paediatric tumours through the ZERO Childhood Cancer Program,” A/Prof Ekert said.
“This provides us with an unprecedented dataset, from which we can gain insight into the specific molecular features and potential drivers of some of the most intractable paediatric cancers.”
Other investigators collaborating on this project include Dr Antoine de Weck, CCI, Dr Ian Street, CCI, A/Prof Greg Arndt, CCI, Dr Antoinette Anazodo, SCHN, Dr Rebecca Poulos, CMRI, Dr Tim Failes, CCI.
Millions of people worldwide live with severe degenerative diseases of the eye leading to progressive vision impairment and eventually total blindness. The majority of these inherited and acquired degenerative diseases affect the light-sensing tissue at the back of the eye, the retina, that contains the rod and cone photoreceptors and are untreatable.
The study will further Dr Gonzalez Cordero’s research into the possibility of restoring vision using stem cell transplantation.
“We have demonstrated proof-of-concept for the transplantation of mouse and human stem cell-derived photoreceptors to rescue visual perception in mice,” she said. “In this project, we will move this therapy closer to implementation.”
Babies diagnosed with Spinal Muscular Atrophy (SMA) at birth who received life-changing gene therapy are now celebrating their first birthday symptom-free or with minimal symptoms thanks to Sydney Children’s Hospitals Network’s (SCHN) world-first clinical trial which was supported by Luminesce Alliance.
The SPR1NT trial, published in the prestigious journal Nature Medicine (two copies of SMN2 and three copies of SMN2), successfully trialled the use of Zolgensma®, a life-changing gene therapy now listed on the Pharmaceutical Benefits Scheme (PBS), in 29 babies at risk of developing SMA before symptoms appeared.
The infants were treated in two cohorts from April 2018 until December 2021. At 18 months of age, all infants were alive and the majority had reached their developmental milestones, such as sitting up independently, standing and walking.
SCHN was selected as the only Australian site to participate in the global trial. Associate Professor Michelle Farrar, Paediatric Neurologist at Sydney Children’s Hospital, Randwick, led the Australian trial and says the results are extraordinary.
“For some of the babies treated pre-symptomatically, we haven’t even seen features of SMA so far which is fantastic,” A/Professor Farrar said.
The gene therapy technique involves a single injection to deliver the missing gene that causes SMA. The best outcomes are achieved before symptoms emerge and motor neuron degeneration occurs.
The SPR1NT trial was delivered by the Clinical Research Centre at Sydney Children’s Hospital, Randwick, and was supported by the NSW/ACT Newborn Screening Service, Luminesce Alliance and UNSW Sydney.
Our computational biology program is using massive super computers to help make sense of big data to improve the lives of children with cancer.
Our investment in computational biology is contributing to better treatments for children with high-risk cancers.
The team brings together data from the genome and other biological measurements and compares these data to healthy children and other children who have had similar cancers before. This helps to work out where possible problems might be — and what treatments have worked in the past.
The team has developed the first precision medicine data platform that brings together a range of analytical and statistical tools to enhance the treatment of children with high-risk cancers.
Huge data sets, including known genetic variations, drug responses, and clinical information from thousands of patients, can be analysed and interpreted to provide recommendations for individual patients – with the potential to provide more accurate diagnosis and treatment options.
Over several days, the computers compare the normal genome of a patient, derived from analysing a blood sample, with that of the tumour from the patient, derived from a biopsy.
Using a database of patients who have had this type of cancer previously, the software then identifies the genetic changes most likely to be implicated in the cancer — and what the best treatment approach is likely to be.
This work has underpinned ZERO’s success in identifying the genetic basis of disease in more than 90 per cent of cases.
“The dream is that every patient gets optimal treatment informed by every patient that’s been before them. We’ve developed innovative analysis tools and an online data portal which lets cancer experts identify the medically relevant pieces so that we can inform precision medicine recommendations” says Associate Professor Mark Cowley, Lead of the Computational Biology Group at the Children’s Cancer Institute.
“LuminesceAlliance hascatalyzed the creation of Australia’s largest computational biology group solely focused on paediatric cancer. It has allowed us to set up the ability to analyse precision medicine data at national-scalefor every Australian child with cancer.”
Acknowledgment of Country.
In the spirit of reconciliation, the Luminesce Alliance acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community.
We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.