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Winter Edition - June 2017
Winter Edition - June 2017
What an exciting first half-year at the Institute. In this edition, we will share with you some of our most inspiring recent successes that have the ability to make a significant impact on the health and wellbeing of children in Australia and around the world.
Some of our research highlights that I am so proud of include: our world-first test to monitor the outcome of bone marrow transplants, putting to bed a myth about fabrics that affect eczema sufferers, and the powerful impact that genomic medicine is having and will continue to have.
Thank you for being part of our research community.
We look forward to more amazing discoveries ahead.
Professor Kathryn North AM MD FRACP
In this edition:
Genomics answers for 100 families
As part of the genomic revolution, an Australian-first study has provided 100 families with a diagnosis for their child’s previously undiagnosed genetic disorder.
Led by MCRI’s Dr Sue White, in partnership with Melbourne Genomics Health Alliance, the study found that genomic sequencing resulted in five times more accurate diagnoses at 75 per cent less cost per diagnosis when compared to standard testing. Changes to medical care were made for 28 per cent of children because their condition could be more precisely pinpointed.
One in 12 Australians have a rare condition and many of these are undiagnosed.
“Some of the diagnoses have meant a change in care which is a significant benefit for children and their families,” said Dr White.
“In some children, ineffective treatments were stopped, while in others, we have been able to put in place early monitoring for related health complications. It’s pretty clear that an accurate diagnosis helps doctors take the best care possible of their patients, and this test delivers diagnoses in more than half of the children tested,” Dr White said.
New test to monitor the success of bone marrow transplants
A new blood test developed at MCRI will allow doctors to better assess the success of bone marrow transplants. The Organ Health BMT test, now in use at the Royal Children’s Hospital (RCH), is now saving more lives than ever before.
This groundbreaking technique uses a blood test where doctors can measure whether the bone marrow transplant has successfully engrafted and identify rejection or recurrence of disease earlier than existing protocols.
When Brydee from Bendigo was only six month’s old, she received the Organ Health BMT test after a bone marrow transplant for Juvenile Myelomonocytic Leukaemia.
The test detected a slight drop in the proportion of her blood cells produced by the transplant and in response, doctors stopped her immunosuppression drugs early to try and improve this.
Further testing using Organ Health BMT showed a 100 per cent improvement. The transplant was successful and today, two-year-old Brydee’s immune system is returning to normal.
This is a further example of how MCRI’s partnership with the RCH can turn research into reality, benefiting patients quicker.
“Without ongoing tests and research, Brydee, among many others, wouldn’t be here today,” her mother Skye said.
Lead scientist A/Prof Howard Slater said that the test has been well-received by RCH doctors. RCH Clinician and MCRI Researcher, Dr Rachel Conyers said the new test would impact patient survival because it gave clinicians the opportunity to act early.
Superfine merino wool good for eczema
A clinical trial led by MCRI is challenging the myth that wool is a possible source of allergy and irritates the skin for eczema sufferers.
The study published in the British Journal of Dermatology showed superfine merino wool may actually reduce rather than exacerbate eczema symptoms.
The first study of its kind to examine the effects of superfine merino wool on childhood eczema involved 39 children aged from four-weeks to three years old. Over a three month period, the children wore superfine merino wool garments against the skin for six weeks before changing to cotton, and vice versa.
The researchers found when children switched to wool after wearing cotton, they showed a significant decrease in eczema severity whereas eczema worsened when those who wore wool changed to cotton.
Ellyda Stone said her son, Ayden, who took part in the trial, responded well to the merino wool garments.
“We noticed that merino wool garments tended to allow for better absorption of moisture, and that this protected Ayden’s skin from dryness and improved his eczema,” Ms Stone said.
The study’s lead author Associate Professor John Su said the results challenged current practices when advising about the suitability of wool for children with eczema.
“When comparing with cotton, there are inherent differences in fibre properties. Merino wool’s greater ability to transfer moisture vapour and heat than other major apparel fibres enable it to maintain a more stable microclimate between the skin and garment,” A/Prof Su said.
One significant advantage of MCRI’s proximity to the Royal Children’s Hospital (RCH) is the ability for researchers to have real-time engagement with patients, which can sometimes lead to uncovering new treatment options.
Through his work in an emergency department at the RCH, Dr Kaufman from our Clinical Sciences team observed that young children would occasionally urinate when a doctor cleaned their lower abdomen with cold, wet gauze before a procedure.
Previously, a “clean catch” approach was used to collect babies’ wee, which relied on predicting a child’s urinary habits and collecting the sample in a cup – which could take hours and carries a higher contamination risk.
“The elusive urine sample has been described by some clinicians as ‘liquid gold’ for these reasons,” Dr Kaufman said.
The clinical observation was quickly investigated by Dr Kaufman and his team, which involved placing a wet cloth on babies’ tummies while the health professional gently massaged the stomach area, in order to trigger urination.
The test was so successful that the “Quick Wee” approach has now become the standard urine collection technique used at the RCH.
The new technique will help take samples quickly and gently from babies aged one to 12 months to test for infection.
Children’s cancer charities support MCRI
Two children’s cancer charities have celebrated 15 years of funding ground-breaking childhood cancer research at MCRI.
Together, the Children’s Cancer Foundation and My Room have invested more than $7 million in a broad range of innovative projects at MCRI, which has significantly underpinned our childhood cancer research program over the years.
This support includes research project funding, clinical trial staffing, clinical research training fellowships, and establishment and support of biobanking (storing biological samples in a repository for research).
“The Children’s Cancer Foundation is committed to investing in Melbourne as a global leader in childhood cancer research. We are proud to fund innovative research that will provide Australian children with cancer with targeted and less harmful treatments, and potentially better outcomes,” said Aileen Boyd-Squires, Chief Executive of the Foundation.
MCRI Director Professor Kathryn North thanked the Children’s Cancer Foundation and My Room for the longstanding and significant commitment and contribution they have made to cancer research at MCRI.
“Without amazing support from organisations like the Children’s Cancer Foundation and My Room this work cannot be undertaken,” Prof North said. “Funding from the Children’s Cancer Foundation and My Room is vital to our research.”
Quentin Bryce book launch
MCRI was proud to host in April the launch of Quentin Bryce’s book, ‘Dear Quentin: Letters of a Governor-General’.
The book is a rich collection of the many letters Quentin wrote and received during her term as Australia’s first female Governor-General.
Described as generous, witty and always heartfelt, Quentin hand-wrote 50 or so letters every week to a wide range of people she met throughout her career.
Royalties from the book will be donated to support our life-changing child health research.
We would like to sincerely thank Quentin, who is also one of our Council of Ambassadors, for her continued support of MCRI which allows researchers to find a healthier future for our children.
To purchase a copy of the book, click here.
Mother's Day Appeal
Mother’s Day is a perfect opportunity to celebrate the importance of children and MCRI.
Thank you to everyone who supported our campaign this year through hosting a Mother’s Day garden party or donating to the Dame Elisabeth Murdoch Mother’s Day Appeal.
One of our event speakers, Darren Catherall shared how life-saving MCRI genomic and stem cell research had saved his son Aiden (pictured).
Your generous contributions have meant that we can now purchase crucial research equipment for our Stem Cell Medicine Research lab so our researchers can keep finding the answers to the big questions.
An inspiring journey – End of Financial Year Appeal
A few weeks ago we shared the remarkable story of Nelle. When Nelle was six months old she was constantly hospitalised due to severe chest infections and concerns about her development.
After many months of hospital admissions to the intensive care unit, she was eventually diagnosed with microcephaly – a small head. This was very worrying for her parents, because they still didn’t know exactly what was wrong with Nelle.
While Nelle had been diagnosed with microcephaly, this was not a complete diagnosis of her overall condition and did not explain many of her severe health problems.
More answers were needed to treat her condition properly so she was referred to an MCRI geneticist who deciphered her gene map.
At MCRI, Nelle was diagnosed with a very rare genetic condition, Cohen syndrome, which affects fewer than 1,000 people worldwide. This genetic disorder causes developmental delay, low muscle tone and a small head.
It was a relief to Nelle and her family when the genetic test revealed the full story.
It is thanks to personalised genetic testing that Nelle received a diagnosis and her parents were given the information needed to better manage her condition.
If you would like to make a donation today, click here or call (03) 8341 6362.
If you have already given to our Appeal please accept our most sincere thanks.