Newborn Screening for SMA – Revolutionising the way we treat childhood disease

The successful implementation of the first state-wide newborn screening (NBS) program for spinal muscular atrophy (SMA) in Australia has been published in Genetics in Medicine, the journal for American College of Medical Genetics and Genomics.

SMA is the leading genetic cause of infant death in Australia, with the disease occurring in one in every 10,000 births. SMA affects motor nerve cells in the spinal cord, causing progressive muscle weakness through to adulthood.

The NBS pilot funded for 2 years by the NSW Government through Luminesce Alliance first started back in August 2018 and has since screened over 100,000 babies and demonstrated that NBS is effective for the early identification and treatment of SMA. A new collaboration between the NSW/ACT Newborn Screening Programme and Sydney Children’s Hospitals Network Neurology Department, the pilot program is led by Associate Professor Veronica Wiley and Associate Professor Michelle Farrar

“We have shifted in a few short years, from considering SMA as a progressive disease to one where we have gone beyond just thinking in terms of survivability to the realm of improving function and reducing the associated burden of disease – Associate Professor Michelle Farrar”

Read the full study here: The implementation of newborn screening for spinal muscular atrophy: the Australian experience


New lab develops latest in stem cell medicine

The newest lab to be established at Children’s Medical Research Institute – Stem Cell & Organoid Facility – is really at the cutting edge of modern medicine, using stem cells to provide regenerative medicine for future generations of children.

The Stem Cell Medicine Group has been started by Dr Anai Gonzalez Cordero, who joined CMRI from London, earlier in the year. Dr Gonzalez Cordero studied Developmental Biologist at University College in London and was awarded a PhD in retinal regeneration. Her thesis, which established that you could use stem cells as a treatment for blindness, was published in the prestigious Nature Biotechnology.

When she was asked to move to Australia and start up a new lab at CMRI, Dr Gonzalez Cordero jumped at the opportunity.

“CMRI offered me a wonderful opportunity to set up a whole new field of research at the Institute,’’ she said. “It’s a challenging task to establish a whole new group and facility at the same time, but one that I embrace with enthusiasm.

“CMRI has excellent research facilities. There are few other centres in the world that have this concentrated level of research expertise including gene therapy and ocular disease infrastructure. It provides an ideal environment in which to translate laboratory-based stem cell research, especially of the eye, into clinical studies. CMRI has an environment that allows for collaborations between numerous areas of expertise.”

Dr Gonzalez Cordero said her vision for the next five years is very clear.

“There are currently many incurable childhood diseases, and stem cell approaches offer significant promise towards therapies in these conditions. My expertise with differentiation of pluripotent stem cells protocols was crucial to allow for an easy transition from the retina to the ear. Therefore, I envisage that in collaboration with other group leaders at CMRI we will be able differentiate stem cells into a variety of other organ systems for disease modelling purposes.”

She said she would like to see stem cell medicine used more widely for regenerative purposes.

“In the long term, I hope to be able to develop impactful translational research to address significant unmet clinical needs.”

Both the Stem Cell & Organoid Facility and the Stem Cell Medicine Group has been supported with Luminesce Alliance funding.

Map of embryo a step towards precision medicine

How does a group of similar cells accurately become the 37 trillion cells in different organs and tissues of the body?

Research published in Nature by scientists at Children’s Medical Research Institute in Sydney, the SIBCB** and CAS-MPG PICB* of the Chinese Academy of Science in Shanghai has revealed a ‘developmental map’ with instructions on how cells are guided to become specific cell types throughout the body.

“Our most recent work provides detailed information on all the genes and signals activated in particular regions of the embryo at particular times,” said Professor Patrick Tam, one of the lead investigators of the team.

“This research has created a precise ‘blueprint of embryo development’ that will enable other researchers around the world to study the gene networks in genetic diseases, leading to advances in precision medicine.”

“What we have learned from studying the genome during development is that each gene—each piece of music—does not act in isolation. It is more a symphony. Many genes work together to create an orchestra of signals to coordinate the growth and development of an embryo. We have now gone beyond studying individual genes to studying the entire gene network and how errors in the network can lead to disease.”

Along with providing a map for studying embryo development, the research is important for future clinical applications such as precisely instructing a stem cell to develop into the cell types we want.

“This knowledge also helps make stem cell therapy possible. A stem cell can become any type of cell. But, like a kindergartner let loose on the playground, you have no idea where she will end up. By understanding the signalling networks, we can direct stem cells into useful paths, to become liver cells or retinal cells. We can generate desired cell types from stem cells for regenerative therapy, to restore missing or malfunctioning cells. In research, clusters of cells, called organoids, can be created using stem cells, enabling us to study disease mechanisms. For example, brain organoids can be used to test drug treatments for neurological disorders, or eye organoids can be used to test treatments for blinding eye diseases.”

*The CAS-Max Planck Partner Institute for Computational Biology, Centre for Excellence in Molecular Cell Science, Shanghai Institute of Biological Sciences of the Chinese Academy of Sciences (CAS)

** Shanghai Institute of Biochemistry and Cell Biology


Zero Childhood Cancer: Clinical Trial

Media Release: ‘Zero Childhood Cancer’ Clinical Trial Delivers Promising Results Within Its First 11 Months

The Zero Childhood Cancer program has today released initial results of its national clinical trial, revealing promising outcomes within its first 11 months.

Of the 129 children enrolled in the trial from across Australia with high-risk and relapsed cancers, 67% were provided with personalised treatment plans aimed at killing their unique cancer cells. For most children enrolled in the trial, there were otherwise few to no treatment options available to them.

Led by Children’s Cancer Institute and the Kids’ Cancer Centre at Sydney Children’s Hospital, Randwick, Zero Childhood Cancer is one of the world’s most comprehensive child cancer personalised medicine studies. The trial uses sophisticated genetic tests to scientifically analyse each child’s individual cancer cells to identify and recommend new personalised treatment options.

Associate Professor Tracey O’Brien, Director, Kid’s Cancer Centre at Sydney Children’s Hospital, Randwick says the trial is giving a small group of children a better chance of survival, where current treatment affords little hope.

“Zero Childhood Cancer is about using the best science we have to give hope to children with high risk cancer. We must try a different approach. Accepting the status quo means that 70% of these children won’t survive to celebrate another birthday,”

Associate Professor O’Brien said.

“Our early results are encouraging and as we learn more, I see future potential for targeted drug therapies to be used more broadly in all child cancers as a smarter way to achieve cure, while minimising therapy side effects.”

Executive Director of Children’s Cancer Institute, Professor Michelle Haber AM, said the Zero Childhood Cancer program is bringing us one step close to personalised medicine for all childhood cancers.

“Zero Childhood Cancer is giving unprecedented genetic and biological information for children with the most aggressive cancers. It is arguably the most comprehensive personalised medicine program for children with cancer.

“The information we gather will not only benefit children on the national clinical trial but will inform new discoveries and further clinical trials that we believe will impact all children with cancer in the future.”

No story exemplifies the impact of Zero Childhood Cancer more than that of Ellie. At just 11 months old, Ellie was diagnosed with infantile fibrosarcoma, a rare and aggressive tumour that was resistant to chemotherapy. The tumour was so large that she was on life support.

Following sequencing of the entire genetic material of Ellie’s tumour through our partnership with the Lions Kids Cancer Genome Project, the whole genome sequencing identified the specific genetic change likely to be driving Ellie’s cancer.  The Zero Childhood Cancer team were then able to identify a new drug that specifically targeted that particular genetic change. The drug was sourced, after four weeks of treatment, Ellie’s cancer had shrunk enough for her to be taken off life support and breathe independently. Six weeks later, Ellie was home.

Ellie’s parents, Mina and Rob, know their daughter is only here today because of the Zero Childhood Cancer program.

“We were told to think about saying goodbye, she was so sick we didn’t even know if she would reach her first birthday. Now, to be celebrating her second birthday, when she is such an active, boisterous and energetic two-year-old is beyond our wildest dreams. We can’t thank the teams at the hospitals and research centres involved in the Zero Childhood Cancer program enough,” Mina said.

Outcomes of the Zero Childhood Cancer program over the past 11 months:

  • 128 children registered for the trial after just 11 months, each of these are children with an aggressive cancer that is identified as having less than a 30% chance of survival
  • Of these, 36% have been enrolled at the time of relapse, 38% at diagnosis and 26% with progression of disease
  • In terms of cancer types, 36% have brain cancer, 29% sarcoma, 13% leukaemia, 6% neuroblastoma and 16% other rare cancers
  • For 67% of children a personalised treatment plan has been recommended
  • Average turnaround time from receipt of samples to personalised treatment recommendation is 9 weeks

Despite the dramatic increase in childhood cancer survival rates over the last sixty years from virtually 0 to 80%, three children and adolescents still die every week in Australia from cancer.

For further information about Zero Childhood Cancer visit

For more information on Trial outcomes, Ellie’s story and supporters of the Zero Childhood Cancer program please click here.