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Summer Edition - December 2017

Summer Edition - December 2017

The festive season is a beautiful time of year, full of family, friends, celebration and reflection.

As I contemplate the past 12 months, I’m reminded that it is thanks to you, our generous supporters, that we have continued to achieve amazing success.

I invite you to read about how our latest groundbreaking research is helping improve the lives of children everywhere - children like Olivia. I hope you are left feeling inspired by the stories and consider a gift to MCRI this Christmas.

Thank you for supporting child health research. I wish you and your loved ones a joyful and safe holiday season.

Kindest regards,

Professor Kathryn North AM BSc MBBS MD DMedSc FRACP FAHMS

The future is here

MCRI will continue to lead the way in exciting stem cell research with the addition of the first 3D bioprinter in the southern hemisphere to our Institute.

The 3D bioprinter, unveiled by the Federal Health Minister Greg Hunt MP, will support our world-class stem cell medicine program on kidney regeneration.

This incredible machine will allow our researchers to bioprint human cells. Professor Melissa Little, who led research to grow mini-kidneys from stem cells in the lab, said the revolutionary technology “gives us the opportunity to bioprint these cells into a more accurate model of the kidney”. 

“While initially important for modelling disease and screening drugs, we hope that this is also the first step towards regenerative medicine for kidney disease,” Prof Little said. 

The bioprinter was provided by 3D biology company Organovo with the assistance of a generous gift from the Methuselah Foundation.

“We are very grateful to Organovo and the Methuselah Foundation for this generous support, which will enable us to advance our research with the first Organovo bioprinter in the southern hemisphere,” Prof Melissa Little said.

MCRI’s stem cell medicine is the next frontier in medical research and promises to transform children’s lives.  

Know your genes

Kerry Moore became concerned when her infant son, Oliver, wasn’t meeting the usual milestones of other babies his age. “He wasn’t rolling, sitting, crawling, or doing the pre-talk babble,” Kerry recalls. “I thought, ‘something’s not right here’.” At one-year-old, he was diagnosed with fragile X syndrome.

Fragile X is an inherited genetic condition causing intellectual disability. It’s also the most common single gene cause of autism. About 1 in 250 women in the general population are carriers.

Although carrier testing is available, guidelines do not recommend routine screening to women without a family history because of concerns about the potential for psychological harm.

However, a new MCRI study involving more than 1000 Australian women has found carrier screening can be offered to women with minimal evidence of harm.

“Our study has shown there are minimal psychological harms if testing is offered with appropriate information and support,” lead author Professor Sylvia Metcalfe said. “Although the preference is to offer carrier screening pre-conception, it can also be offered during pregnancy with minimal harm.”

Study co-author Jonathan Cohen, medical director of Genetics Clinics Australia, said if the test was offered before pregnancy it could give women more options, including planning for a child through IVF treatment using pre-implantation genetic diagnosis (PGD).

This allows an embryo to be tested and implanted if it is unaffected.

Ms Moore decided to go down this path for her third child for her own piece of mind.

“I can’t recommend it enough,” she said. “If you find out you’re a carrier before you have children then you’re presented with so many more options. You never dream of a life for your child where they find it hard or they have limitations.”

Olivia’s story

Christmas is a time for joy and celebration, but it can be a difficult time when your loved ones are unwell. This festive season, you can give the gift of life by supporting groundbreaking research at MCRI.

Last month, we introduced you to the story of little Olivia. Now aged five, Olivia’s first few years were overshadowed by countless tests and procedures to try and find why she wasn’t developing at the same rate as other children her age.

After a long journey, genetic testing at MCRI led to the discovery that Olivia has an extremely rare genetic condition, Kleefstra Syndrome, which affects just one in 23 million people.

Finally having an answer has improved Olivia’s quality of life. It also allowed her family to better plan her future and even grow their family – she now has a baby brother. “The hardest thing as a parent is knowing something is wrong with your child, but you can’t do anything about it,” says Olivia’s devoted mother, Kate.

But there is something you can do. Your donation to the Murdoch Children’s Research Institute will advance research to help children just like Olivia find much needed answers and live healthy and fulfilled lives. 

Donate today: or call 1300 766 439

Profile - Dr Josh Osowicki

Research study doctor, Infection and Immunity

Group A Streptococcus (GAS) has a massive global impact. Most commonly known for causing ‘strep throat’, it affects hundreds of millions of people worldwide every year. Most are in developing countries but high-income countries like Australia are not immune.

GAS, which can cause sore throat and skin infections, can also lead to life-threatening conditions including heart and kidney disease.

That’s why a vaccine is so critical. MCRI’s Dr Josh Osowicki, a paediatrician and infectious diseases physician, works with fellow expert Associate Professor Andrew Steer researching GAS to achieve this goal.

Dr Osowicki was this year awarded the prestigious NHMRC Gustav Nossal Postgraduate Scholarship, awarded annually to the highest-ranked clinical applicant, to support his GAS PhD research. He is creating a safe model for strep throat involving adult volunteers, to accelerate GAS vaccine development. It was a special honour for him to receive the award named after the leading Australian immunologist, who came to Australia as a refugee from Europe on the brink of World War II. “What was left of my family came here as immigrants in the aftermath of that war,” Dr Osowicki reflects. “The achievements of immigrants like Sir Gustav Nossal in building a life and career in their new country are an inspiring example."

The most recent career highlight aside, Dr Josh Osowicki ’s proudest achievement is his four-year-old daughter, Layla. The paediatrician is passionate about working with children. It’s in his blood. “A commitment to social justice is in my DNA,” he says. “Children need to be healthy if they are to build a better world.”

Annual global burden of GAS

  • More than 600 million cases of GAS pharyngitis (‘strep throat’)
  • More than 150 million cases of GAS impetigo (‘school sores’)
  • More than 600 thousand cases of invasive GAS infection (e.g. toxic shock syndrome, necrotizing fasciitis - ‘flesh eating disease’)
  • ~500,000 new cases of acute rheumatic fever
  • ~30 million people living with chronic rheumatic heart disease

Q&A - Associate Professor Adam Scheinberg

Honorary Fellow Manager, Clinical Sciences
Developmental Disability and Rehabilitation Research

What are you working on?

Our team of researchers from MCRI, Swinburne University, University of Melbourne, Data61 and Royal Children’s Hospital have been designing and developing a Socially Assistive Robot, the NAO, for paediatric rehabilitation.

What is the latest exciting update?

We have adapted the NAO to deliver post-surgery rehabilitation exercises for children. Clinicians are working with data programmers and robotics experts to incorporate a series of movements into the NAO to demonstrate to the child. The NAO can show and encourage the child to complete important exercises to aid their recovery following surgery. We have also developed an iPad interface for therapists to tailor exercise programs for each child’s specific needs.

What is the ideal goal of your research?

We aim to be at the forefront of robotics research, using humanoid robots to improve children’s rehabilitation outcomes. Therapists can use the NAO to monitor each child’s progress, remotely adapt exercises, and provide real time feedback. The NAO will never assume the role of therapist, but may be increasingly used as a type of therapy assistant to achieve the best outcomes for children.

What do you love about MCRI? 

The ability to connect with such a diverse, dedicated and inspirational group of people! I work with researchers around Chronic Fatigue Syndrome, Cerebral Palsy, Brain Injury and Animal Assisted Therapy.

Why are you passionate about child health?

The firm belief that improving child health leads to a brighter future for us all, and the enjoyment that comes from working with children and their families. 

In the news

Cracking Cures

A treatment for deadly peanut allergy trialled at the Murdoch Children’s Research Institute (MCRI) has shown long-lasting effects, more than four years after the original study.

The research led by Professor Mimi Tang followed up children four years after they completed the initial trial of the probiotic and peanut immunotherapy (PPOIT) treatment.

The majority of children who gained initial tolerance are still eating peanut as part of their normal diet (80%) and have passed a further challenge test confirming long-term tolerance to peanut (70%).

MCRI launched a successful fundraising campaign, Cracking Cures, on the back of the results. Thank you to everyone who donated!

Healthy Happy Beginnings

A community-based maternal program for Karen women, from Burma, has been recognised by an award from the Victorian Government. MCRI’s Healthy Happy Beginnings project team received a Victorian Early Years Award for creating collaborative community partnerships.

The Healthy Happy Beginnings project is a new way of delivering pregnancy and early childhood care, in a group setting. It was created to promote health, wellbeing and resilience for refugee families, to ensure refugee children and families have an equitable, healthy start to life in Australia.

Prestigious research prize

MCRI’s leading infectious disease expert, Associate Professor Andrew Steer, has won a major national science prize.

A/Prof Steer’s world-first research successfully treating scabies, a neglected tropical disease, won the Australian Infectious Diseases Research Centre Eureka Prize for Infectious Diseases Research.

The accolade recognised trials carried out in Fiji which involved mass administration of a drug, ivermectin, to treat scabies. Scabies was virtually eliminated, reducing in prevalence from 33 per cent to two per cent.

Thank you - community support

Women’s Network

In 2017, we called on women in the wider community to join the MCRI Women’s Network to champion our child health research.

The inaugural event held in Melbourne featured Chloe Shorten and former Australian Governor-General Dame Quentin Bryce, and was attended by women from the business and research communities.

More events are planned over the next year. We look forward to watching this unique network grow and evolve as it supports the work of the Institute.

Dads of Melbourne

Leaders from the fields of commerce, politics and culture have met to support the world-leading work of MCRI.

The Dads of Melbourne lunch on October 20 heard from Kate McMahon, who shared her family’s journey on the road to a diagnosis for four-year-old Olivia’s rare genetic disorder.

Olivia was diagnosed Kleefstra Syndrome, which affects only one in 20 million people worldwide, following genetic sequencing by MCRI.

We would like to thank Kate for kindly sharing her personal story and extend our gratitude to those who attended and generously raised funds for MCRI.

Big W, Big thankyou!

We want to say a huge “thank you” to BIG W stores across Victoria, Southern NSW and ACT for raising $250,000 to advance our heart research.

Heart disease remains one of the leading causes of death in children under the age of one, with one in 100 children born with a heart problem.

Big W’s generous contribution towards tackling this issue means we can continue to undertake world-class research to improve the health of children with congenital heart disease.