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Winter Edition - June 2018
Thank you very much for your ongoing interest and support. This has been an exciting year for the Murdoch Children’s Research Institute as our researchers keep working tirelessly to change the lives of ill children in Australia and around the world.
From discovering genes to growing mini-kidneys from a patient’s stem cells, our researchers aim to give the answers that doctors and parents of ill children are looking for. Children just like William, featured recently in our Tax Appeal. He is six years old and lives with cerebral palsy. Thanks to genetic testing and a pain management drug trial undertaken at MCRI, William is finally able to do daily tasks pain free and is enjoying life. I invite you to read his full story enclosed.
As leaders in the fight against allergy in children, we are very excited about the development of a new app to help children with food allergies stay safe. Created by MCRI experts, Professor Katie Allen and Professor Mimi Tang, Allergy Pal helps parents and carers recognise a food allergy reaction and gives advice on what to do in an emergency, including when to use the EpiPen.
The outstanding impact made by our researchers and their achievements means that we are able to turn research into reality; directly contributing to the improved health and wellbeing of children. I would like to thank you for your commitment to support our life-saving research and for giving children the opportunity to live healthy and fulfilled lives.
In this edition:
Genomic testing is changing the lives of ill children
A nationally-leading Melbourne Genomics Health Alliance study, undertaken by a team of experts from MCRI, The Royal Children’s Hospital and Monash Children’s Hospital has shown the usefulness of rapid genomic sequencing for intensive care patients with suspected genetic conditions.
Remarkably, more than half the children in the study received a diagnosis for their unknown condition after their genome was deciphered – half of the diagnosed children received personalised care thanks to the diagnosis.
This groundbreaking study exceeded timeframe expectations and parents received their children’s results up to 10 times faster than the time usually taken for this kind of test.
The study showed that even though rapid genomic testing costs more, there were greater benefits overall to patient care and hospital costs.
Benefits were particularly noted from specialist doctors and researchers working together to speed up genomic testing for these critically ill children.
As a result of this work, a further $2.4 million has been granted to extend the use of rapid genomic sequencing in a national project across multiple paediatric and intensive care units, aiming to deliver results in as little as five days.
Stem cell research leads the way
MCRI continues to lead the way in stem cell research by taking an exciting step towards improving our understanding of genetic kidney disease and developing personalised treatments.
It is estimated that at least 50 per cent of children who require dialysis or a kidney transplant have a genetic cause for their kidney disease. Unfortunately, very little is known about how the disease develops and there is no specific treatment available for children with this condition.
This was the case for Alex, a courageous and clever 12-year-old Brisbane girl, who suffers from Mainzer-Saldino Syndrome, a rare genetic condition causing vision loss and kidney failure. When Alex was five, doctors discovered Alex’s kidney function was just three per cent and she underwent a kidney transplant – using a kidney donated by her grandmother. While the transplant was a success, the cause of her renal failure was unknown. Alex was 10 years old when genetic testing finally led to an answer. This was very exciting news for Alex and her family as it gave them some resolution to her diagnosis and access to current research into the condition.
Following her diagnosis, MCRI researchers took a skin biopsy from Alex to create stem cells and turn them into kidney tissue. Two mini-kidneys were grown in the laboratory, one with Alex’s kidney disease and the other with the defective gene, which was then corrected using gene editing technology. The findings proved the lab-grown tissue can be used to study inherited kidney disease.
“The fact that we can make kidney tissue from human stem cells and then correct any genetic mutations to study the way the disease develops is a very promising step towards developing personalised future treatment,” said MCRI’s Professor Melissa Little.
By growing mini-kidneys from a patient’s stem cells, MCRI researchers are hoping to find new genes responsible for kidney disease. We also hope we can test for possible new treatments for each patient’s specific disease.
“There is a long way to go to make personalised treatments, but knowing we can study inherited kidney disease using a patient’s stem cells is a breakthrough step,” said Prof Little.
A few weeks ago we shared the story of young William. Now aged six, William was born with cerebral palsy and was only 24 hours old when he began having up to 80 seizures per day – but no one knew why.
When William was two years old, he took part in a research project identifying the genes involved in causing epilepsy.
William was diagnosed with a genetic condition called KCNQ2 and he was able to enter a trial with a range of drugs to minimise seizures. Luckily one of the drugs worked and his epilepsy seizures decreased considerably.
Unfortunately 75 per cent of children with cerebral palsy experience pain, which directly impacts their quality of life. Following his diagnosis, William was referred to MCRI, where he took part in another trial that involved the use of a drug to manage pain in children with cerebral palsy. The results for William were outstanding – his movement capacity improved by 70 per cent because his pain was reduced and tasks like sleeping and showering are now pain free. Thanks to our research, William is finally enjoying life and his parents are able to better manage his condition.
Your donation advances research to help children just like William to live healthy and happy lives.
Profile - Associate Professor Sue White
Collectively, rare genetic conditions affect one in 12 Australians. Many of them affect children, and many of them are undiagnosed. Children with genetic conditions make up the majority of inpatients in paediatric hospitals.
Associate Professor Sue White is a clinical geneticist at the Victorian Clinical Genetics Service (VCGS). Through her work, she helps to find a diagnosis for children with suspected genetic conditions.
Sometimes, the diagnosis is very clear from the pattern of problems children have, but often it is not. This is where genomics has revolutionised A/Prof White’s work. By using genomic sequencing early on, particular tests can be avoided in some undiagnosed children, saving them and the health system from using an invasive procedure.
“I care very much about children whose lives are different because they have a genetic condition. Providing genomic tests leads to answers, and sometimes these answers lead to a change in treatment,” A/Prof White said.
Research has shown that in children with undiagnosed syndromes, genomic sequencing can give five times more diagnoses at one third of the cost of traditional diagnostic tests.
In a project led by A/Prof White, more than half of the undiagnosed children received a diagnosis from genomic sequencing. Her goal is to ensure that every child with a suspected genetic condition has affordable and timely access to genomic testing.
“Genetic conditions are not curable, but having the exact diagnosis allows us to help children and their families in lots of ways and live the best life possible. We are going a long way to achieve this through our research.”
In the news
Unlocking the mysteries of stuttering
For children who stutter, the impact can lead to social anxiety, poor educational outcomes, and overall reduced quality of life. Around one third of children that stutter will continue to stutter into adulthood. In an Australian first, researchers from the Centre for Research Excellence in Speech and Language, led by MCRI’s Professor Angela Morgan, are working to identify the main causes of stuttering. This research aims to pinpoint the specific genes that lead to stuttering and find effective treatments for all age groups. Information about how to participate in the research can be found at geneticsofstutteringstudy.org.au.
Friends in need are friends indeed
A new MCRI study has shown that belonging to a group of friends, rather than having just one best friend, could help to protect children’s mental and emotional wellbeing in the face of bullying. Bullying is sadly becoming more common – one in three children experiencing frequent bullying in primary school, which has a profound impact on their mental health. This important study highlights the need to promote positive peer friendships and implement bullying policies from the earliest years of school. It can also empower parents and schools to better support children’s mental health and boost resilience from a young age.
Allergy app gets smart
MCRI allergy experts Professor Katie Allen and Professor Mimi Tang have developed a new app to help kids with food allergies stay safe. Allergy Pal helps parents and carers recognise a food allergy reaction and gives advice on what to do in an emergency, including when to use the EpiPen. The app also provides instant access to crucial information about each child’s allergy triggers and treatment, as well as their current allergy emergency action plan. Allergy Pal aims to provide valuable information to help researchers better understand allergies, so we can continue to work towards finding better treatments, and even cures. Allergy Pal is available now for both iOS and Android phones.
Dame Elisabeth Mother’s Day Appeal
During the month of May each year, we recognise the importance of mothers through our Dame Elisabeth Murdoch Mother’s Day Campaign.
We’d like to say a huge thank you to everyone who supported our campaign this year through hosting a Mother’s Day garden party or donating to the Appeal.
Father Darren Catherall shared his family’s powerful story at our Dame Elisabeth Murdoch Mother’s Day garden party luncheon in Sydney. Thanks to groundbreaking MCRI genomics and stem cell medicine research, our scientists were able to save Darren’s son, Aiden, who was diagnosed with leukaemia at age five.
Your generous contributions to this campaign have meant that we can now purchase crucial equipment for our Stem Cell Medicine lab, so our researchers can continue working on finding answers for children like Aiden.
Q&A - Dr Valerie Sung
Post-doctoral Research Fellow
Community Health Services Research
What have you been working on?
One of my main research projects is focused on finding the best ways to treat and manage infant colic. I ran the world’s biggest trial of a probiotic called Lactobacillus reuteri for treating colic. I then led a study with international collaborators to clarify the probiotic’s effectiveness.
What is the latest exciting update?
Up until now, there has been no effective treatment for colic. Through my research, we found that the probiotic has the potential to reduce crying in exclusively breastfed babies less than three months old.
What is the ideal goal of your research?
My goal is to help parents of newborns going through the stress of their babies’ crying. Families often receive conflicting advice about how to manage their baby’s crying. I hope to increase awareness on strategies to manage crying. This will help families cope better and reduce the need to try treatments that don’t work.
What do you love about MCRI?
I love the people at MCRI – they bring so much joy, energy and positivity to the workplace, and they are so inspirational in the work they do!
What makes you passionate about child health?
I love being able to help children and their families by carrying out important research that can change their lives. I particularly love working with children because they are so resilient and radiate with happiness when they are thriving and well!