The 2022 Westmead Research and Innovation Conference

We’re thrilled to be supporting thee 2022 Westmead Research and Innovation Conference which will bring together research, industry and health care delivery to connect, learn and be inspired.

The theme this year is around the intersection of research and industry.  Industry partnerships enable our research excellence to manifest as accessible therapeutics, diagnostics and/or medical devices that will revolutionise healthcare and make a real impact to the burden of disease globally.

As well as exciting keynote speakers, the talk session themes will include “Industries of Tomorrow”, “Digital Health”,  “Clinical Innovation” and “The Entrepreneurs Journey”.
The conference will display the world-class research undertaken at Westmead as well as nationally and internationally from a scientific, industry and government perspective.

Register here. See the program here.

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World-first treatment changes outlook for SMA babies

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.

Read the media release here.

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GIM’s Most Read 2022 Paper on RNA Diagnostics

We are delighted to share Prof Sandra Cooper and the team’s paper on Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants has been identified as the most read 2022 paper in Genetics in Medicine the official journal of The American College of Medical Genetics and Genomics.
Luminesce Alliance contributed funding to this research.
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Growth of ‘mini organs’ to aid study of neurological disease of the eye and brain

The growth of brain and retina organoids from stem cells in a laboratory dish could improve the study of neurological diseases of the eye and brain.

The “exciting” discovery was made by researchers at the Luminesce Alliance-funded Stem Cell Medicine Group, based at the Children’s Medical Research Institute, in Westmead.

Led by Dr Anai Gonzalez Cordero, the team has perfected the culturing of organoids from induced pluripotent stem cells, which are generated using a patient’s blood or skin. Often referred to as mini organs, organoids are morphologically similar to actual organs, providing opportunities to learn about how they behave in the lab.

Dr Gonzalez Cordero said that as her team were growing retinas in a dish, they noticed cells similar to those found in the brain were growing nearby.

The team were able to verify that they had produced brain organoids in the retinal cultures through collaborating with researchers at CMRI’s Synapse Proteomics Group and Computational Systems Biology Group.

“It is a great start,’’ Dr Gonzalez Cordero says. “This work is all about improving how we study some neurological diseases, so it’s very exciting. The next step is to optimise the process.

“It is also a great example of the collaborative approach to research that we have at CMRI.’’

The research is published here in Stem Cell Reports. Authors on this publication included Milan Fernando, Scott Lee, Jesse Wark, Di Xiao, Hani Kim, Grady Smith, Ted Wong, Erdahl Teber, Robin Ali, Pengyi Yang, Mark Graham, and Anai Gonzalez Cordero.

Read more here

 

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Are some children predisposed to cancer?

A Luminesce Alliance-funded trial looking at the genomic sequencing of patients diagnosed with childhood cancers is providing vital insights into whether some children are predisposed to develop the disease.

When children and adolescents present to hospitals with cancer, we often suspect it may be caused by changes in their DNA that damage the genes they were born with. But we do not know why some children get cancer, how many of them have an underlying genetic abnormality that predisposes them to cancer, or what this means for the future management of these children and their families.

Our pilot program allows all children diagnosed with cancer in New South Wales access to family-based DNA testing. The PREDICT study will help give the world a much clearer picture of how changes in genes we are born with contribute to the risk of developing childhood cancer and help us find ways of managing it.

We have already recruited more than 100 families to the study.

Our findings will show whether routine family-based germline testing of children with cancer is feasible and beneficial, what percentage of children with cancer have a genetic predisposition, and what the implications are for them and their families and how they are managed.

About 8 per cent of childhood cancers may have a genetic cause. But whole genome sequencing of children with high-risk, aggressive cancers who were enrolled in the Zero Childhood Cancer Program (ZERO) over the past five years, found that double that number as many as 16 per cent had reportable genetic variants thought to be responsible for their cancer.

To understand the full spectrum of these genes and variants and the contribution of heritable germline variants in the development of all paediatric cancer, it is necessary to broaden genomic germline sequencing to all children with cancer.

Luminesce Alliance funding has been used to develop and launch the PREDICT trial, which involves whole genome sequencing of the germline of every child diagnosed with cancer in NSW.

Understanding the genetic predisposition to cancer will have several benefits for the child and their extended family, says Dr Luciano Dalla- Pozza, Director of the Cancer Centre for Children at The Children’s Hospital at Westmead.

For example, it will influence treatment recommendations and play a role in determining outcomes, such as whether a child may respond well to radiotherapy or certain medications.

It provides the opportunity of personalising surveillance programs and implementing early intervention and lifestyle changes to prevent or treat cancer at an earlier stage.

“It also provides valuable information to patients and their families to help them make choices about future pregnancies, to understand how to minimise their own cancer risk and that of any future children they may have,” says Dr Dalla-Pozza.

Ultimately, if the PREDICT trial indicates that this work is feasible and useful, it will inform the roll-out of a national cancer predisposition pilot screening program through the Zero Childhood Cancer Program’s clinical network.

In the long term, that program will provide the opportunity to personalise surveillance and treatment plans for children and their families who are found to be at risk of cancer due to heritable germline variants.

 

 

Hope for children with Spinal Muscular Atrophy

Children newly diagnosed with the devastating genetic condition Spinal Muscular Atrophy (SMA) now have access to novel new gene therapy, Zolgensma®, free of charge, after it was listed on the Pharmaceutical Benefits Scheme.

Announced today by Federal Health Minister Greg Hunt, Zolgensma®, which normally costs $2.5 million per treatment, now joins two other publicly funded therapies on offer for SMA – Nusinersen and risdiplam.

The devastating genetic motor neurone disease, spinal muscular atrophy (SMA), quickly paralyses babies, who survive on average 9 to 10 months. While their brains remain unaffected, they lose the ability to move, feed and ultimately breathe. SMA affects one in 10,000 births and was once the leading genetic cause of infant death.

Patients at the Sydney Children’s Hospitals Network participated in the global SPR1NT trial, which investigated the use of Zolgensma®. The study, funded by Luminesce Alliance, followed each participant until aged 18 months, found that all children achieved the ability to sit independently, all were alive and free of permanent ventilation and all had normal swallow function and were fed exclusively by mouth by 18 months of age.

Since the addition of SMA to the NSW Health funded newborn screening program almost four years ago, more than 330,000 babies have been tested for the condition free of charge and given quick access to treatment and support.

Read more: A success story of translation: screening babies nationally for spinal muscular atrophy

“We know that early identification is vital in the treatment of SMA and that is what the newborn screening program has allowed us to do. It has radically shifted our model of care and we are now in a position where we can rewrite the history of SMA,” says Associate Professor Michelle Farrar, paediatric neurologist at Sydney Children’s Hospital and the University of New South Wales, Sydney.

Read more from Sydney Children’s Hospital Network

 

A success story of translation: screening babies nationally for spinal muscular atrophy

In a collaborative effort supported by Luminesce Alliance, clinicians and researchers have worked together to introduce a molecular test for a previously untreatable disease that paralyses babies.

The devastating genetic motor neurone disease, spinal muscular atrophy (SMA), quickly paralyses babies, who survive on average 9 to 10 months. While their brains remain unaffected, they lose the ability to move, feed and ultimately breathe. SMA affects one in 10,000 births and was once the leading genetic cause of infant death.

We supported a successful pilot that added the first genetic test to the Newborn Screening Program in NSW and the ACT. All babies are now screened for SMA and inherited immune disorders.

New treatments are also revolutionising the outlook for babies with SMA. However, the treatment is most effective when given before a baby develops symptoms – by this time they may have already lost 90 per cent of their nerves. The best way to identify babies who need the treatment is to screen at birth.

“Every day counts. Any delay could be the difference between a child living in a wheelchair or not,” says Associate Professor Michelle Farrar, paediatric neurologist at Sydney Children’s Hospital and the University of New South Wales, Sydney.

“Families now have two birthday parties – one to mark the day the child was born, and the other the day they got their treatment. Before it was uncommon to celebrate first birthdays.”

The power of working together

In a collaborative effort supported by Luminesce Alliance, specialists from Sydney Children’s Hospital Network and the University of  New South Wales universities have worked together to have a molecular test for SMA included in the newborn screening test offered to all 100,000 babies born in NSW and the ACT each year.

Newborn screening involves taking three drops of blood from a newborn baby’s heel. This is then analysed using biochemical tests for more than 25 medical conditions.

International gene therapy trial

The impetus to test newborns for SMA was boosted by an international gene therapy trial, including NSW children, which indicated a single dose of gene therapy could potentially reverse the disease.

With world-leading expertise in SMA, newborn screening and gene therapy, the members of Luminesce Alliance realised there was an opportunity to show international leadership in this space. They launched a pilot of the first genetic test to be included in the newborn screening program.

The new test involves extracting the baby’s DNA from the heel prick test and looking for genetic variants that indicate SMA as well as some primary immunodeficiencies. The test is highly specific and sensitive and can be conducted on-site at Westmead.

If a baby’s genes suggest they may have a form of SMA, further tests can be conducted to confirm the diagnosis and start life-saving treatment.

Making the test available to babies throughout Australia

The two-year pilot was completed in 2020 and was then continued with NSW Health funding. The data were analysed by the Federal Government, which recently recommended that newborn screening for SMA should be implemented nationally.

The pilot boosted the case with implementation and health economic data that showed newborn screening for SMA was value for money, led by Prof Georgina Chambers from the National Perinatology Epidemiology and Statistics Unit.

A/Prof Farrar says this work would not have been possible without the connections, reputation and organisational support offered by Luminesce Alliance.

Read more: Testing & treating newborns for spinal muscular atrophy: saving lives & healthcare costs