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Budget 2018 confirms the importance of genomic healthcare

Victorian Clinical Genetics Services (VCGS) welcomes the $500M allocation to investment in genomic research as part of the federal budget 2018. The first research project ‘Mackenzie’s Mission’ is a $20M trial into pre-conception genetic carrier screening for serious genetic conditions like cystic fibrosis, spinal muscular atrophy and fragile X syndrome. Mackenzie Casella was born with spinal muscular atrophy (SMA) and sadly died last year at seven months of age. Her parents were unaware that a genetic test could have alerted them to the fact they were both carriers of SMA before becoming pregnant. They started a campaign to raise awareness about genetic disorders and lobbied the Government to fund genetic carrier testing. In February 2018, Mackenzie’s Mission was established — a three-year research study to be supported by the Medical Research Future Fund. 10,000 couples across Australia will be screened pre or in early pregnancy by next generation sequencing for...
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Institute News

Australians with food allergy don’t feel safe eating out - be aware and show you care

New research conducted by Allergy & Anaphylaxis Australia on its member database has found that 4 out of 5 respondents have had an allergic reaction when eating away from home. These findings have been released as part of a call to action in Food Allergy Week for Australians to learn more about the potentially life-threatening effects of food allergy, how to prevent exposure to allergens and how to manage an allergic reaction. Maria Said, CEO of Allergy & Anaphylaxis Australia, states, “There are still too many incidents involving consumption of a known food allergen when eating out of the home. During Food Allergy Week we are asking all Australians – those who prepare and serve food (including family and friends), plus those with food allergies - to further educate themselves on how to better avoid allergic reactions, and how to manage them when they do occur.” The research, conducted by...
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Research News

Child visits to Victorian emergency departments for mental health issues triple

New research by the Murdoch Children’s Research Institute (MCRI) has shown over the seven years between 2008 and 2015, mental health presentations have tripled amongst children in the 10-14 and 15-19 age group. The study, published in the Medical Journal of Australia, looked at children from birth to 19 years. Between 2008 and 2015, 52,000 children presented to Victorian public hospital emergency departments statewide with mental health disorders. The most common condition was self harm, followed by drug and alcohol issues, then mood disorders such as depression and anxiety. There was a particular increase in depression and anxiety diagnoses for children aged 10-14 years and young people aged 15-19 years. Patients with mental health concerns were more likely to be triaged as urgent, stay longer in the emergency department, and be admitted to hospital compared to those with physical health issues. MCRI researchers leading the study suggested a range of...
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Research News

Australian breakthrough in stem cell kidney research

New research led by the Murdoch Children's Research Institute (MCRI), has combined gene editing technology with stem cell kidney regeneration to correct a patient’s gene mutation. This is the first time a patient has had kidney regenerated from their stem cells in Australia. The research, is part of a regenerative medicine project in which human stem cells are used to develop mini-kidneys with a view to discovering new genes and treatments for inherited kidney disease. In this new study, published in The American Journal of Human Genetics and involving hospitals and laboratories in Brisbane, Sydney and Melbourne, stem cells derived from a child with genetic kidney disease were grown into two sets of living mini-kidney organoids – one with her kidney disease and one in which her gene mutation was corrected. The stem cells were created from a skin biopsy taken from 12-year-old Alexandria, who suffers from Mainzer-Saldino Syndrome, a...
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Institute News

The 11th International Symposium on Pneumococci and Pneumococc​al Diseases has begun!

The 11th International Symp​o​sium​​ on Pneumococci and Pneumococc​al Diseases (ISPPD) has begun! Over 1100 researchers from all around the world have gathered in Melbourne for the event, which aims to bring together professionals in the field to raise global awareness and improve standards of diagnosis, prevention and treatment of pneumococci and pneumococc​al diseases. The Honourable Linda Dessau AC, Governor of Victoria, officially opened the symposium last night at the opening ceremony (pictured). The ISPPD is a non-profit, non-governmental association and has its headquarters in Geneva, Switzerland. Initiated in 1998 at the 1st meeting in Denmark, ISPPD conferences have been organized every 2 years in different countries with local sponsors. MCRI's very own Professor Kim Mulholland is the Robert Austrian Lecturer for ISPDD-11, and he will deliver his keynote speech on Wednesday 16th April. The researchers will also take part in workshops, networking events, poster sessions and much more. In their...
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Research News

Anti-epileptic drugs increase the risk of bone fractures in children

New research has shown evidence that anti-epileptic drugs (AEDs) reduce bone density in children and therefore lead to an increase in the number of fractures, if used for more than a year. The study by the Murdoch Children’s Research Institute (MCRI), in conjunction with the Royal Melbourne Hospital (RMH), has prompted experts to highlight the importance of considering side effects when prescribing these drugs. One in 150 children are diagnosed with epilepsy in the first decade of life in Australia however there is currently very little paediatric data relating to the impact of AEDs on the health of the bones. Researchers, including Professor John Wark from The RMH who has led many adult studies in this area, undertook a case controlled study using 23 pairs of twins, non-twin siblings and first cousins – one with epilepsy and one without. Those who were taking AEDs had an increased prevalence of bone...
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Institute News

Rapid DNA sequencing transforms care for critically unwell children

Rapid genomic sequencing for babies and children with suspected genetic conditions improves health outcomes and saves healthcare dollars – transforming rare disease diagnosis in paediatric and neonatal intensive care. A nationally-leading Melbourne Genomics Health Alliance study, undertaken by a team of experts from Murdoch Children’s Research Institute, The Royal Children’s Hospital and Monash Children’s Hospital, has demonstrated the usefulness of rapid genomic sequencing for intensive care patients with suspected genetic conditions. More than half the children in the study received a diagnosis; care changed for more than half of those diagnosed. Parents received their children’s results in a median of 16 days (as little as 9 days in some cases): up to 10 times faster than the time usually taken for this kind of test. ‘Our study shows good reasons for children in intensive care to receive genomic sequencing results more quickly than the typical four months. Even though the...
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Research News

New ‘high-flow’ oxygen therapy will improve the treatment of infants with bronchiolitis

New research has shown that a new ‘high-flow’ oxygen therapy can be safely delivered in emergency departments and general paediatrics wards in both large tertiary children’s hospitals and smaller regional centres. The outcome of the study showed that high-flow therapy reduced the need for higher level of care from 23% to 12% in the standard oxygen therapy group. This is the first study in the world to demonstrate a change in practice that can impact patient outcome and reduce the need to escalate care for infants with bronchiolitis, which would also reduce the cost and burden on hospital care. The study, published in the prestigious New England Journal of Medicine, involved 17 hospitals across Australia and New Zealand, including researchers from the Murdoch Children’s Research Institute (MCRI), the Royal Children’s Hospital Melbourne, the University of Melbourne, the Paediatric Critical Care Research Group (PCCRG) located at the Lady Cilento Children’s Hospital...
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Research News

Research to make early diagnosis, intervention possible for cerebral palsy

A test to diagnose cerebral palsy at birth, which could allow infants access to critical early interventions, is one step closer thanks to research from the Murdoch Children’s Research Institute (MCRI). The research, recently published in the journal Clinical Epigenetics, has taken the first step to identify a biological early warning signal that a child might develop cerebral palsy – a physical disorder that affects one in 500 Australians. Supervising researcher Associate Professor Jeffrey Craig, now at Deakin University’s School of Medicine, said that although cerebral palsy mostly originated inside the womb, children may not get a diagnosis until one to two years of age, or even later in some mild cases. “But by studying ‘epigenetic’ marks influenced by the early environment in the womb, we can predict which babies will develop cerebral palsy, enabling early intervention to help lessen the symptoms of this condition,” Associate Professor Craig said. “This...
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