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Autumn Edition - March 2020

Autumn Edition - March 2020

A hard-knock life: new concussion podcast out now

Concussion Podcast

One in four kids still have concussion symptoms four weeks after their concussion. Would you know what to look for and what to do?

To explain all things concussion, MCRI neuropsychologist Professor Vicki Anderson hosts a six-part series, developed in partnership with PodCast One.

The series helps listeners understand what happens in a childhood concussion, the differences in severity of hits to the head, the steps to help diagnose and manage head injuries, and advances in neurotechnology.

Vicki says that learning the symptoms is incredibly important so that parents can understand how to treat concussion.

“There’s also that 25 per cent of children who need extra care when still showing symptoms after four weeks.

“This series looks at who the 25 per cent are, how to identify persistent symptoms and what you should do to help manage them.”

To listen to the podcast, visit MCRI podcasts

World-first discovery for immunity

Andrew and Ed

MCRI researchers Professors Andrew Elefanty and Ed Stanley have become the first in the world to reproduce and visualise RAG-1 cells ‑ the earliest steps in human immune cell development.

Researchers have tried to understand immune cell development for many years. Understanding immune cells better will help us learn more about what goes wrong in immune-related diseases like childhood leukaemia and type 1 diabetes.

Andrew says “We think these early cells might be important for the correct maturation of the thymus, the organ that acts as a nursery for T-cells.”

T-cells are a type of white blood cell that is essential to the way our body tailors our immune response to specific pathogens.

“These RAG-1 cells are like the painters and decorators who set up that nursery, making it a safe and cosy environment for later-born immune cells,” says Andrew.

“Understanding more about the steps these cells go through, and how we can more efficiently nudge them down a desired pathway, is going to be crucial.”

Andrew says, “A clinical application is likely still years away, but we can use this new knowledge to test ideas about how diseases like childhood leukaemia and type 1 diabetes develop.”

One day this discovery could lead to a patient’s own skin cells being used to produce new cells for cancer immunotherapy or to test autoimmune disease interventions.

This research was supported by the Children’s Cancer Foundation

Learn more about the Stem Cells Medicine Program at MCRI 

Avoiding available antibiotics


Almost three in 10 children have a confirmed allergy to common antibiotics, but many more children avoid these drugs – even though they don’t need to.

Avoiding the most common antibiotics means that children are using more specialised antibiotics unnecessarily, says study author Dr Amanda Gwee from MCRI.

“People with antibiotic allergies are given alternative antibiotics that are not the first-line treatment for their infection. This means longer hospital stays and could lead to increased rates of infection with resistant bacteria.”

Amanda says that quickly identifying children who do not have an antibiotic allergy could prevent lifelong, unnecessary avoidance of certain antibiotic classes and help prevent antibiotic resistance.

She points out that avoiding the most common antibiotics also costs the health system more. Another study found that the costs to the hospital system as a result of a patient having an antibiotic allergy were up to $609 per patient, a cost that applies whether the child is actually allergic or avoiding the antibiotics unnecessarily.

Find out more about Dr Amanda Gwee

Injustice in the justice system


Young people in the youth justice system have poorer mental health, more neurodevelopmental disability and more infections than other kids their age.

Working alongside peers from the University of Melbourne and the University of Sheffield (UK), MCRI researchers found that detained adolescents have a significantly worse outlook in a range of areas.

Compared to their peers, these young people have a higher prevalence of mental health conditions and suicidal behaviours, more substance abuse disorders, more neurodevelopment disabilities, and more sexually transmitted infections.

“We need to recognise that these vulnerable young people typically spend only a short time in detention, before returning to the disadvantaged communities from which they have come,” says MCRI’s Professor Stuart Kinner, and Head of the Justice Health Unit at the University of Melbourne.

“If we can screen for health and developmental difficulties while adolescents are in the justice system, we can identify unmet needs – often for the first time – and tailor evidence-based support to improve health outcomes and reduce reoffending once they return to the community.

“However, to make these improvements we need greater investment in transitional programs and public health services.”

Read the media release: Action needed to improve poor health and disadvantage in the youth justice system

The impact of rare disease

Baby and Mother

At least one in 12 babies is born with a rare disease, and each year, Rare Disease Day calls attention to the enormous impact of rare diseases worldwide.

There are more than 6000 known rare diseases and 75 per cent effect children. The causes of many of these diseases remain unexplained — 30 per cent of affected children will die before they are five.

Rare Disease Day was held on 29 February. Many MCRI researchers, notably in our genomics and stem cell medicine programs, are working towards a world where all people living with a rare disease receive an accurate diagnosis, care and available therapy within a year of coming to medical attention.

Despite progress in diagnosing rare diseases with genomics, many Australian families still do not have access to genomic testing.

Current delays in obtaining accurate genomic diagnosis in Australia prevent early interventions, personalised care and future family planning.

This means that too many families are missing out on a rapid, accurate diagnosis – the first step on the path to receiving the right care.

Rapid genetic diagnosis not only has benefits for patients and their families, it has economic benefits to the health care system because unnecessary testing and ineffective treatment would be curtailed.

Find out more about Rare diseases at MCRI

Rallying for an ultra-rare disease


Five-year-old Angus is one of only two boys worldwide known to have BPAN, a degenerative genetic brain disorder that more commonly affects females.

MCRI has launched an Australian-first research project into BPAN, which causes intellectual disability, seizures and degeneration. Affected children appear to have a static disorder but then gradually lose developmental skills and have a reduced lifespan.

This is the first BPAN project in Australia and one of only a few globally. Establishing the project has been driven by the dedication and tenacity of David and Edwina Hunter, who have secured significant philanthropic funding. Angus is their son, and he was diagnosed when he was just two years old.

Mr Hunter says, “The clock is ticking; a cure or treatment must be found for Angus and other children diagnosed with BPAN before they reach their late teens or early twenties, which is when the deterioration starts.

“We have so far raised about half the funds needed to begin scientific research into BPAN, and I’m calling on everyday Australians to help us help these brilliant scientists.”

Following the launch of the research project in December 2019, there’s been additions to the funds raised with further successful fundraising and a grant from the US organisation NBIA Disorders.

These funds have allowed Dr Jay Shukla to be appointed to lead this research under the supervision of Co-Director of the Bruce Lefroy Centre at MCRI Associate Professor Paul Lockhart.

MCRI Professor Martin Delatycki said BPAN was not an inherited condition, but caused by a random genetic mutation in a gene called WDR45.

“The disorder interferes with normal childhood progress, so children with BPAN are slow to develop some skills and never develop others. Many children never learn to walk or talk. Tragically whatever skills they do develop, they lose and there is reduced life expectancy.”

Associate Professor Paul Lockhart says the new research program would use laboratory-grown human nerve cells to try to understand how faults in the WDR45 gene cause BPAN, and to test new treatments.

Paul says the research may offer unprecedented and life changing opportunities for individuals and families affected by BPAN.

“Little is known about the biology of BPAN, and there are no drugs that can cure or even slow the progression of this devastating disorder,” he said.

“Current treatments only aim to alleviate symptoms. There is a critical need for this research to understand the disease and begin to look for treatments.”

To find out more about the program visit BPAN Donate

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