Murdoch Childrens Research Institute Annual Report 2014

20 14

Minds that

cure

,

hear

ts that care

World renowned for its research into infant, child and adolescent health, our world-class team of 1500 researchers is dedicated to making discoveries to prevent and treat common and rare childhood conditions. We also collaborate with teams nationally and internationally to answer child health problems quickly and to make an even greater impact on the health of children around the world.

Today the health of children is challenged by issues such as obesity, allergies, diabetes, cancer and mental health. As the largest child health research institute in Australia, Murdoch Childrens is well positioned to make ground-breaking discoveries and translate them into treatments and cures to ensure current and future generations of children are healthy.

CONTENTS

02 RESEARCH THEMES

03 YEAR AT A GLANCE

04 CHAIRMAN’S REPORT

06 DIRECTOR’S REPORT

09 BOARD OF DIRECTORS

12 TACKLING THE EPIDEMIC OF ADULT CHRONIC DISEASES IN CHILDHOOD

14 ROTAVIRUS VACCINE CANDIDATE PROVEN TO BE EFFECTIVE IN CLINICAL TRIALS

26 EXPLORING THE SCIENCE BEHIND CHILDHOOD OBESITY

20 IVF BABIES GROW UP TO BE HEALTHY ADULTS

18 INHALED VACCINES COULD SEE THE END OF NEEDLE VACCINATIONS

22 A PARENT’S PERSPECTIVE: ACHONDROPLASIA DRUG TRIAL

24 A PARENT’S PERSPECTIVE: PUTTING AN END TO THE ‘DIAGNOSTIC ODYSSEY’ FOR FAMILIES

30 WORLD FIRST IN EARLY DETECTION OF RHEUMATIC HEART DISEASE

32 A FAMILY-BASED APPROACH TO TREATING ANOREXIA

34 STUDY TO ANSWER UNCERTAINTIES ABOUT ALCOHOL IN PREGNANCY

35 CALL FOR CHANGE ON COMMON IV FLUIDS

38 MAINTAINING THE CUTTING EDGE IN A DATA-RICH WORLD

40 STUDENT PROFILE KYLIE SMITH

41 STUDENT PROFILE NICHOLAS RYAN

42 STEP-A-THON FOR KIDS 2014

44 DAME ELISABETH MURDOCH ROSE MOTHER’S DAY APPEAL

46 HONOURING RYAN THROUGH SUPPORT FOR A CURE

36 SONNY GETS KIDS MOVING

16 INVESTIGATING ALLERGIES IN THE FOOD ALLERGY CAPITAL

10 CENTRE FOR CEREBRAL PALSY RESEARCH CONTINUES WORLD LEADING WORK

28 DEPRESSION IN MOTHERS PEAKS FOUR YEARS POST BIRTH

27 IMPROVING HEALTH OUTCOMES FOR ABORIGINAL FAMILIES

02 MURDOCH CHILDRENS Annual Report 2014

Working across five main research themes, the Institute conducts nationally and internationally recognised studies to make genuine changes to the delivery of health and education.

Cell Biology The Cell Biology Theme investigates how cells work and how disease processes alter healthy cells in order to help children with conditions such as developmental disorders, cancers and congenital diseases.

Clinical Sciences Working closely with clinicians, our researchers study current diagnosis and treatment practices of children with serious, acute and chronic conditions.

Genetics Researchers work to discover the genetic basis of disease to understand the causes and improve the management of genetic conditions such as ataxia, thalassemia, mitochondrial and chromosome disorders.

Infection and Immunity The Infection and Immunity Theme investigates common infections and immune conditions both locally and globally. One focus of the Theme is vaccine development, testing, safety and quality assurance.

Population Health A complex relationship of social, environmental and biological factors influences child and adolescent health. Researchers study the health of communities and translate this knowledge into prevention, intervention and treatment.

Researchers work side by side with health professionals and academics at The Royal Children’s Hospital and the University of Melbourne’s Department of Paediatrics. Using this model – of building research teams involving staff from all three organisations and working on problems in an integrated way – promotes faster and more effective translational outcomes leading to early intervention and prevention for children.

Campus partners Research themes

2014 Annual Report MURDOCH CHILDRENS 03

Year at a glance

35%


“Reflecting on the past 12 months I am reminded of the vital role that Murdoch Childrens Research Institute plays in shaping the health of children now and in the future.”

Mr Leigh Clifford AOA message from the Chairman


In my time as Chairman, I have seen the Institute go from strength to strength, to become the leading child health research Institute in Australia today. Due to the quality of research undertaken at the Institute, our scientists are best placed to tackle the big problems facing kid’s today such as obesity, allergies, cardiovascular disease, rare and common genetic diseases.

In 2014, despite the funding environment, our researchers continued to deliver results with impressive publication output, impactful national and international collaborations, new drug trials and by influencing state and national health policy. Philanthropic funding continues to be vital, and the Institute celebrated great success in attracting major international funding, including over $18 million from The Bill & Melinda Gates Foundation. The Foundation have recognised the calibre of the Institute’s researchers in carrying out global research and vaccine programs, including work in Africa, Asia and the Pacific.

The research team, under the leadership of Director Professor Kathryn North, has solidified the Institute’s reputation on the international stage and together Murdoch Childrens continues to champion child health issues in all areas of the community. Supported by the Executive, Kathryn has placed importance on translating the Institute’s work into tangible benefits for the community, through new and innovative treatments, diagnostic tools, software programs and technologies.

I would like to thank our Board members for their generous service and continued commitment in 2014. The Board is critical to the future direction of the Institute and Board members have taken considerable interest in promoting the impressive research conducted at Murdoch Childrens to the public. The past year saw some changes to the Board as we welcomed two new members, Patrick Houlihan and Paul Rayner. With change comes new opportunities and we look forward to their involvement and leadership as the Institute continues to move forward. I am confident that the diverse range of experience on the Board will be extremely beneficial in years to come.

Most importantly, I would like to thank and congratulate our researchers and support staff for their continued commitment and enthusiasm in bringing about long term changes for future generations.


Professor Kathryn North AMA message from the Director

“At the Murdoch Childrens Research Institute we are committed to translating our research discoveries and knowledge into tangible benefits for children.”


As we are based within a hospital, many of our researchers are also clinicians so they can use research to solve problems they are confronted with in their daily work with children and families. Likewise, when our researchers in the lab make a discovery, this can be quickly communicated and transformed into a practical treatment for children in hospital and the community.

In 2014, the Institute entered a new era – with the commencement of some of our most exciting research initiatives to date. Our recently established Genomics Centre has already made significant progress. Our approach – starting with the patient and developing a whole-of-system that is focussed on improving patient care and outcomes – is unique. In a pilot study we have already increased our ability to diagnose inherited childhood disorders that lead to severe intellectual and physical disability from 20 to 50 per cent and this success rate will continue to climb as new genes are discovered. Our goal now is to make sure that every child and every family has access to the benefits that genomics provides for early diagnosis, early intervention and prevention.

Our researchers also published exciting results from our ongoing rotavirus vaccine work. Professor Ruth Bishop and colleagues discovered rotavirus on this campus 40 years ago and the new vaccine is the culmination of over four decades of research. This vaccine can be given orally in the newborn period – which is the most likely time that mothers in developing countries will see a nurse or doctor. The results from a recently completed clinical trial

show that the vaccine is effective in over 90 per cent of babies and a more extensive trial is now underway in Indonesia. This oral birth dose vaccine has the potential to save over half a million lives each year, mostly in developing countries.

Another highlight is the work of our newborn medicine team who last year developed an inhaled vaccine device which could put an end to the need for needle vaccinations. Researchers found a novel way of turning a liquid vaccination into an aerosol and then used this finding to develop a device to deliver the vaccine by inhalation. This device has the potential to simplify the way vaccines are given worldwide and could mean more children have access to vaccinations.

These findings and results would not be possible without continued support. Every year we receive incredible donations from businesses, community groups and individuals who raise money for our research and for children and families that benefit from our research. Without this support many of our research projects would not be able to get off the ground as governments and competitive funding bodies tend to support established research.

As Director of Murdoch Childrens, it is a privilege to lead the passionate, committed and talented researchers on this campus. Our Institute has a strong strategic focus. We foster innovation and talent so that we will continue to make new discoveries, be leaders in disease prevention and transform clinical care and policy for the health of children worldwide. We are ambitious in our goals and we are determined to make a difference.



Board of Directors

Steven Casper

Suzi Carp

James Craig

Dr Charles Day

Bruce Grey

Patrick Houlihan

Professor Christine Kilpatrick

Hon Rob Knowles AO

Ian Miller

Professor Paul Monagle

Sarah Murdoch

Judy Paterson

Paul Rayner

Jason Yeap OAM John

Dakin

Company Secretary

Professor Kathryn North Director AM

Leigh Clifford Chairman AO


Cerebral palsy is the most common physical disability in childhood, occurring in about two of every thousand live births. In Australia, there are about 700 new cases each year, and a total of 34,000 people have cerebral palsy. Cerebral palsy produces a higher disability burden (in terms of years of healthy life lost) than blindness, deafness, diabetes or heart failure. Despite the frequency and severity of the condition, there remain major gaps in assessment and management.

The Institute has a long history of research and advocacy in cerebral palsy, spearheaded by renowned clinician and researcher Professor Dinah Reddihough. In 2013, the Institute was awarded a prestigious five year Centre of Research Excellence grant by the National Health and Medical Research Council, to improve the physical, mental, social and emotional health and wellbeing of children with cerebral palsy and their families.

The Centre utilises the Murdoch Childrens led Victorian Cerebral Palsy Register, which has grown to be one of the largest cerebral palsy databases in the world and has been used as the basis for 68 studies to date. Many of the studies have resulted in changes to clinical practice. For example, the finding that children with severe cerebral palsy require more regular hip x-rays than those with mild cerebral palsy has enabled establishment of hip surveillance guidelines for the frequency of hip x-ray examination.

The Centre has already cemented its position as a world leader in cerebral palsy research, taking on an ethos of input and inclusion from stakeholders; whether they be people with cerebral palsy or their families, disability support providers, researchers, health professionals or policy holders.

Centre for cerebral palsy research continues world leading work


Central to the program of work is a team of five family representatives working closely with researchers to ensure research outcomes are meaningful and relevant to those living with cerebral palsy. Parent representative Vicki Cavalieros is involved with the Centre in various projects and has herself established the Cerebral Palsy Support Network to support families in Victoria. Her own daughter Tess, now 23, was a patient of Professor Reddihough from eight months of age.

Tess was involved in a ground breaking trial run by the Institute, where children with cerebral palsy were given Botox to reduce spasticity in the limbs. She was also involved in a drug trial and a study looking at the quality of life of teenagers with cerebral palsy.

Mum Vicki is thrilled that the family are contributing to new knowledge in the field. “I feel privileged to have the opportunity to be part of a community that always strives to improve the lives of those affected by cerebral palsy and to reap the benefits of such a high standard of care, personally.”

Tess is now completing a degree in Social Work, and hopes to one day build her career to influence national policy.

Patient involvement key to Centre’s work

“I feel privileged to have the opportunity to be part of a community that always strives to improve the lives of those affected by cerebral palsy.” - Vicki Cavalieros, Mother

Professor Reddihough, Tess & Vicki Cavalieros


Researchers are conducting a national Child Health CheckPoint study which involves a one off physical health assessment of 11 to 12 year old children in the Growing Up in Australia study. The study aims to learn more about the health of young Australians as they pass through the ‘checkpoint’ between being a child and teenager.

During their study visit, children go through a series of stations which focus on different aspects of health. This involves state of the art health assessments which measure heart, lung, kidney and bone health, fitness, strength, vision, hearing, diet, activity and many more aspects of health and development.

“Growing Up in Australia is Australia’s most important child health study, and has been following 10,000 kids since they were young,” Research Officer Susan Clifford said.

“To complete the health assessments, we have designed a ‘pop-up’ assessment centre which will visit 12 cities around Australia. We hope the study data will help improve prevention and treatment of illness and ultimately the health of Australian children. We want to know what makes for a truly healthy child and how and when to target those who are most at risk.”

Tackling the epidemic of adult chronic diseases in childhood

The participant takes a big breath, then blows out as much air as fast as possible though

a mouthpiece connected to a computer. Asthma is one of the most common

childhood health conditions, so we repeat this lung function test after a few puffs

of the asthma puffer, to see if lung function can be improved.

Wearing headphones, the participant listens for very soft noises in each ear at different

pitches from high to low and repeats spoken sentences against background

noise. Children repeat spoken sentences without background noise and identify a

series of single spoken words.


Dental health is measured by taking photos of the teeth using a small camera held inside the mouth. There are 3D photos

taken of the face and teeth to get a more detailed look at oral health. Lastly, the

team collects a saliva sample to look at the environment inside the mouth.

Children wear a heart rate monitor while cycling on a stationary bike for six minutes.

Every two minutes it gets harder to push the pedals and by measuring heart rate

we can predict maximum heart rate while exercising, to learn about fitness.

A special computer measures blood pressure and gives information about blood vessel

function. An ultrasound of the neck measures the thickness of the wall of the large carotid artery. This ultrasound can show very early signs of changes to the artery wall, which if

it continues to worsen can predict heart disease in adulthood.


The rotavirus team at the Institute celebrated another pivotal milestone in 2014 with their rotavirus vaccine candidate having been found to provide a strong immune response in over 90 per cent of babies that received a course of the vaccine.

Rotavirus is the most common cause of severe diarrhoea among infants and young children and results in the death of over half a million children under five years of age worldwide each year, mainly in developing countries.

The clinical trial, which was done in collaboration with the University of Otago in New Zealand, involved 95 babies receiving a course of three doses of the vaccine, with the first dose within the first days following birth.

Lead researcher, Professor Julie Bines said the results provide confidence that the vaccine will be highly effective in preventing severe rotavirus gastroenteritis in very young babies.

“These results are a major step forward. Not only have we shown that this novel vaccine is well tolerated in newborns but it produces a strong immune response, suggestive of promoting early protection from severe rotavirus gastroenteritis.”

“The advantage of this vaccine over the currently available vaccines is the birth dose which is the earliest opportunity to provide protection to babies from severe rotavirus gastroenteritis. This world-first approach has enormous potential to reduce disease and dying in the most vulnerable children around the world.”

The ‘RV3’ rotavirus vaccine candidate has been developed from a unique strain of rotavirus that was found naturally in healthy asymptomatic newborn babies, who were then protected from severe rotavirus diarrhea in the first three years of life.

Rotavirus vaccine candidate proven to be effective in clinical trials


Institute awarded over $18 million from the Gates Foundation

The Murdoch Childrens Research Institute was awarded over $18 million in grant funding from the Bill & Melinda Gates Foundation to support a range of international child health projects.

This included over $4.9 million to expand the rotavirus trials which are underway in New Zealand and Indonesia and further funding towards projects aimed at combating childhood pneumonia in countries in Africa and the Asia-Pacific region.

Director Professor Kathryn North said the funding success shows the quality of international research work.

“The level of Gates funding the Institute has been able to attract demonstrates our researchers’ ability to tackle key global health problems and will enable us to accelerate our innovative research ideas to improve and save children’s lives all over the world.”


Australia has the unfortunate title of being the food allergy capital of the world. Recent research, led by Professor Katie Allen, found that one in 10 infants suffers from a food allergy, which is the highest prevalence of food allergy ever reported in the world.

Murdoch Childrens researchers are global leaders in research which seeks to uncover the evolution of the food allergy epidemic.

Professor Allen leads six allergy studies at the Institute; one of these is the HealthNuts study which involves 5300 infants and is the largest population based study of food allergy ever mounted. It is through this study that researchers have concluded that the rise in allergies is most likely a result of our modern lifestyle.

Results from the study have generated five hypotheses relating to increases in the prevalence of food allergy that, Professor Allen says, can be summarised simply as the five ‘D’s’ - diet, dogs, dirt, vitamin D and dry skin.

Investigating allergies in the food allergy capital

Professor Katie Allen


For babies: The allergy team found that parents who delay giving their babies allergenic foods could be doing more harm than good, with a 2011 study showing the rate of egg allergy significantly increases among toddlers who are introduced to the food after 12 months of age. The research finding contributed to the changes in the National Infant Feeding Guidelines which now recommend that parents should introduce solids such as eggs around the age of six months, not after 10 months as initially directed. This is supported by new research suggesting the same for peanuts.

In pregnancy: There’s no evidence that avoiding potentially allergic foods like nuts in pregnancy lowers the risk of children developing an allergy.

Researchers identified an ‘eczema gene’ which increases a persons risk of being sensitive to common allergic foods. Researchers say the findings support the hypothesis that sensitisation to food can occur through the skin and dry skin may increase the risk for infants to become sensitised to common allergenic foods.

Another finding that supports the hygiene hypothesis is a study which found that when babies used pacifiers that had been dropped on the ground, their risk of allergy was lower.

Our researchers found infants who are vitamin D deficient were three times more likely to have an egg allergy and 11 times more likely to have a peanut allergy. Those with vitamin D deficiency were also more likely to have multiple rather than single food allergies, with the odds increasing to 10 times more likely among those with two or more food allergies. Researchers at the Institute are now undertaking a study which aims to find out if vitamin D supplements in the first year of life reduces the risk of food allergy and other early life illnesses such as wheezy bronchiolitis. Since Australia is one of the few Westernised countries that does not fortify the food chain supply with vitamin D, this research will provide world first evidence about the role of the ‘sunshine vitamin’ in early development of the immune system.

Diet

Dry skin Dirt

Dogs Vitamin DA 2012 Institute study found having a dog that lives in the home could reduce the likelihood of allergies in infants. The study also found that having older siblings reduces a child’s likelihood of developing an allergy. This finding supports the ‘hygiene hypothesis’ which is a theory which states that the immune system needs to be exposed to appropriate stimulation during development so that it is ‘trained’ to attack things that might cause us harm (such as bacterial or viral infections) while ignoring harmless things such as foods. A research trial at the Institute has commenced to test whether the anti-TB vaccine (BCG) can kick start the immune system in a similar way and prevent allergic disease in early life.


Researchers from the Institute have developed a potential alternative for needle vaccinations, successfully trialling a method in which people can inhale a vaccine to be safeguarded against potential infections.

Led by Dr Anushi Rajapaksa, the team developed a novel way of turning a liquid vaccination into an aerosol form to protect against the flu. In the world first study, which also included researchers from Monash University, the team used a plasmid DNA vaccine and came up with a unique way of aerosolising sensitive biomolecules via the use of very small but powerful sound waves. The team used a small nebuliser device, which is already found in mobile phones, to administer tiny particles of the vaccine, which are delivered so quickly that they are not destroyed before inhalation.

According to Dr Rajapaksa, this development holds a lot of promise for a replacement to vaccine injections, especially in developing countries that simply cannot afford expensive and specialised handling, refrigeration and staff training for current vaccines.

“The nebuliser technology can be made portable and only requires batteries for operation. There is huge potential of this work to be used for mass vaccination programs especially in developing countries with limited resources.”

There are also benefits for Australian parents, who are often hesitant to give their children intimidating needles, as well as potentially boosting immunisation rates, which are actually falling in some areas.

“Current vaccines often induce inflammation, causing pain, requiring monitoring by health care workers and resulting in peoples’ unwillingness to seek vaccination,” said Dr Rajapaksa.

“The nebuliser technology can be made portable and only requires batteries for operation. There is huge potential of this work to be used for mass vaccination programs especially in the developing countries with limited resources.”- Dr Anushi Rajapaksa

Inhaled vaccines could see the end of needle vaccinations


1 2 3 4

BATTERY WAVES VACCINE PARTICLESA device that is battery powered similar to your mobile phone is used.

The electricity creates very small but powerful sound waves which travel on the surface of the device.

Vaccine solutions are fed from the cartridge and wick system. This process requires no needles, pumps or compressed air.

The wave interacts with the medication to agitate it so much so that the surface tension of the fluid is broken up to form a fine mist of particles.

The nebuliser system will be made into a portable handheld device that can be used by patients without the need for specialist knowledge. The ultimate aim for the device is for patients to be able to self administer their vaccines without the need for a trained health professional.

The innovative use of sound waves in RespireTM technology is used to aerosolise medications in the most gentle and effective manner. The novelty in the technology allows

effective administration of vaccines that are biologically active in aerosol form, an important requirement for vaccination by inhalation. This nebuliser is the first to show effective vaccination after aerosol delivery in a large pre-clinical model using sheep. In the next phase of development, the nebuliser will be used in clinical trials to evaluate efficacy and safety before the nebuliser could be in the hands of the public.

5

YOUThe patient can inhale the medication with ease non-invasively. Once the vaccine reaches the target site in the lung it will produce antibodies and will help protect patients against future infection.

LUNGSThe aerosol vaccine reaches the target site in the lung and activates an immune response. Protective antibodies produced by the vaccine will help patients fight future infections.

INHALEMist which contains the medication is inhaled and the vaccine reaches the lung.

RESPIRETM


Leanne & Olivia Vink


Young adults conceived through IVF and other assisted reproductive technologies (ART) are no different in terms of health and wellbeing to similar aged people conceived without ART, a study led by Professor Jane Halliday found.

Researchers interviewed 656 mothers who used ART and their 547 young adult offspring aged between 18 and 29 years and compared this to reports from mothers and their young adult offspring who were conceived naturally.

Although they might carry a slightly higher risk of some illnesses such as asthma, adults conceived through ART had similar quality of life to non-ART children along with a normal body mass index and pubertal development.

Researchers did find that ART mothers reported their children were almost twice as likely to be in hospital in their first 18 years of life.

However the study, published in Fertility and Sterility, concluded there was little evidence of significant health disparities, which is good news for parents who are unable to conceive naturally.

Leanne Vink’s daughter, Olivia was conceived through IVF at the Royal Women’s Hospital and the pair are involved in the study. Olivia is now 23.

“I was very reassured by the study results, to see that there was no increase in any type of abnormality. These are just normal, gorgeous kids who needed a little bit of ‘technology’ to get here!”

The study will continue to bring the young adults in for clinical examination and follow them as they age to see if other health issues emerge.

IVF babies grow up to be healthy adults

“These are just normal, gorgeous kids who needed a little bit of ‘technology’ to get here!”- Leanne Vink,

Mother


A parent’s perspective: Achondroplasia Drug Trial

By Natalie Puleio

Our son Sam was born six weeks early and with few issues he came home to our small country town of Robinvale. Soon after though, our paediatrician told us Sam’s growth was of concern. After this, we were sent to Melbourne to visit Dr Ravi Savarirayan, where Sam underwent some tests. Following this, Sam was diagnosed with achondroplasia, the most common type of dwarfism.

As parents we were naturally devastated and had little idea of what this diagnosis might mean for Sam; how it would affect him physically, mentally and socially. We went through every type of emotion you can think of, from feelings of guilt, denial, anger and frustration, to love and joy, all at once.

In October 2012 we received a letter from Dr Ravi, a clinical geneticist and researcher at Murdoch Childrens Research Institute, regarding a growth study trial which would be followed by a drug trial. Sam was put onto a list and luckily met the extensive criteria.

The drug trial aims to improve Sam’s bone growth, especially in the later years of his life, which will hopefully ease the likelihood of arthritis, curvature of the spine and bowed legs- all of which tend to result in operations. We hope the drug can reduce the chance of these problems and keep Sam active and pain free.

Our main motivation for being involved with this trial has been our confidence in Dr Ravi and his team, who have been working tirelessly to find a new treatment for kids like Sam. We know that Dr Ravi is so passionate about finding a way to help benefit his patient’s livelihoods. We feel blessed that we are able to be involved with his work. Sam is an active, healthy boy and we want to give him the chance to continue his active life; that would be the one wish we as a family could ask for.

Throughout the study, Sam has been cooperating extremely well with nurses taking blood, measuring him, observing him. He also has daily injections which were a little emotional for him at the start but he now understands the reason behind them and is comfortable with them. He feels quite important at times!

We have annual appointments with Dr Ravi and we always remember Dr Ravi saying “Sam is Sam and no one else”. Sam is now 10 and his life is normal, low key and quiet. When at home he is riding his motorbike, playing football with his dad, playing around with his little brother or his older sisters. He’s competed in athletics and swimming carnivals, he has even run around the oval for cross country. What Sam has given his family is humour, strength and determination. He is full of life and more.


Natalie Puleio & family

Dwarfism generally refers to a group of genetic disorders characterised by shorter than normal skeletal growth. Achondroplasia is the most common type of dwarfism. The majority of children born with this condition have average-sized parents.

Murdoch Childrens researchers are leading a world first trial that aims to decrease health complications for young people with achondroplasia. Led by Professor Ravi Savarirayan, the study involves a six month growth trial and two year drug trial.

The drug, made by US pharmaceutical company BioMarin, has been proved successful in animal trials and will be given to 15 Victorian children as part of the international study – Sam is one of the first to be involved worldwide. If successful it will prevent or decrease the need for these children to undergo risky surgery and also potentially increase their final height. The drug could be given as a daily injection to children from the age of four until the end of puberty, when growth plates in bones close to finish growing.

Drug trial for dwarfism

Professor Ravi Savarirayan & Sam


The Institute recently established The Genomics Centre and is also part of a Parkville Precinct initiative, the Melbourne Genomics Health Alliance, which includes nine other organisations.

At the Institute and as part of the Alliance, researchers and doctors are applying new genomic technologies as diagnostic tools in the clinical setting for patients affected by genetic conditions.

Louis was recruited into the genomics study through the Institute as it was suspected that his health issues were caused by a mutation in a gene known to cause mitochondrial disease.

Louis underwent exome sequencing, a process in which a fraction of his genome is sequenced. Exome sequencing analyses the genes most commonly associated with disease. Louis’ genetic data was then examined manually but no variants were identified in mitochondrial genes. Further examination of the data for rare variants identified two variants in a gene which causes a condition that can mimic mitochondrial disease, but responds to treatment.

This genomic approach is set to revolutionise medicine, leading to dramatic improvements in healthcare. Genomic information will improve patient care by enabling more rapid, cost effective diagnosis, disease prevention and targeted treatments.

Genomic technologies set to revolutionise healthcare

Amy Clarke & Louis


In January 2014 our family received the worst news possible. Our youngest child Louis, was diagnosed with a terminal metabolic condition. It is an incurable, progressive disease which affects the way cells work and which had severely impacted upon our little boy’s muscle and brain development.

Louis had been suffering terribly from nerve pain for a few weeks, and had gone from being an exceptionally happy child to not recognising us because he was so uncomfortable. We were advised that Louis’ prognosis was poor and that his life expectancy was uncertain but certainly very short. We were devastated when he was diagnosed, as were our family and friends. He was five months old. We cried often, and were in terrible pain, but somehow we managed to keep going and most importantly, to enjoy the little time we had left with our beautiful youngest child.

Eight months later Louis was hospitalised with a chest infection. But while my husband Martin and I were at The Royal Children’s Hospital with him the most amazing thing happened. We were asked to meet with one of Louis’ medical teams and they told us that a research project we had taken part in had produced results. The research team had isolated the gene which had produced Louis’ terrible illness and beyond any expectations, it was found to be a condition that responds to treatment. Although his condition is very rare and there’s limited knowledge about it, the doctors were confident that Louis’ condition was no longer terminal.

We had not been told this was even a possibility - not at any stage of the year nor at any point in the research process. We were now told that whilst the damage Louis had sustained to his brain was irreparable, careful and consistent medication would ensure he did not experience any further damage. He will be very different from most people, particularly in relation to his physical mobility, but he will now live a full life.

Martin and I returned to our room in the hospital – where Louis was asleep in his bed – and held each other and cried. We couldn’t quite comprehend the change in our lives and the change to our families’ lives – particularly for our other children, Noah and Nina. They were no longer going to lose a sibling. Our siblings were no longer going to lose a nephew, and our parents were no longer going to lose a grandson. It all seemed incredibly surreal and it took days to sink in.

Our family has challenging times ahead but we believe those times will be full of wonder and joy. Instead of becoming four, we will remain as five, and that is so much more than Martin and I have been able to hope for all year. We will never be able to express adequately the profound and joyous effect the research team’s efforts have had upon ours, our families, and our friends’ lives.

A parent’s perspective: Putting an end to the ‘diagnostic

odyssey’ for families

By Amy Clarke


With one quarter of all children and adolescents in Australia now either overweight or obese, the Institute has continued to place great importance on research into the condition.

Until recent times, childhood obesity was thought to be predominantly a community or societal problem and due to reductions in physical activity, increases in sedentary time and enhanced nutrition – with increased portion sizes and increased energy dense foods.

But we now know that it is not as simple as this. In fact, the development of obesity in some (but not all) children with these symptoms appears to also be dependent on many other factors, such as genes and hormones, which regulate growth and weight status.

Working within the multidisciplinary Weight Management Service, based at The Royal Children’s Hospital (RCH), our researchers are developing unique studies to better understand the underlying causes and complications of childhood obesity.

Led by A/Professor Matt Sabin, the team have begun to carefully study the types of patients attending the Service, and are beginning to discover the complex interactions which likely explain the intergenerational worsening of obesity that has occurred over the last 10 to 15 years.

“Childhood obesity isn’t black and white. Obese children aren’t just obese because they’ve chosen the wrong lifestyle,” said A/Professor Sabin. “We now recognise that genetics plays an important role in the determination of body composition in young children and that, if exposed to certain environmental triggers, some will develop severe obesity or early weight-related complications.”

Other factors, such as those involved with the hormonal and the metabolic regulation of appetite, body composition and nutrient signalling are also being studied. New roles of established growth related hormones have been discovered that appear to control body size in childhood, and the way in which the body handles dietary fats, protein and sugar.

Exploring the science behind childhood obesity

Today’s children are at higher risk of developing health problems such as diabetes, cancer and heart disease.

A/Professor Matt Sabin


Improving health outcomes for Aboriginal families

Aboriginal and Torres Strait Islander women are between three to five times more likely to die in childbirth compared to other Australian women and two to three times more likely to have a stillborn baby, neonatal death, preterm birth and/or low birth weight infant.

The Aboriginal Families Study, conducted in collaboration with the Aboriginal Health Council of South Australia, has been gathering information from Aboriginal women about their experiences of using services during pregnancy. The study shows that expanding culturally responsive services across urban, regional and remote areas of South Australia has increased access to antenatal care for Aboriginal families.

On average, Aboriginal women have their first child at a much younger age than other Australian women, with the consequence that antenatal care may be the first experience many young women have of health care as a young adult. Antenatal care is an important ‘window of opportunity’ for getting it right, so that young women and their partners are well supported in pregnancy and not dissuaded from engaging in future preventive health care by services that are culturally insensitive.

The Aboriginal Families Study was designed to address concerns of Aboriginal communities, policy makers and health professionals in South Australia, that services were not doing enough, or working in the best possible ways, to support Aboriginal families.

Preliminary findings from the study released in 2014 have already led to changes in the way that the Aboriginal Family Birthing Program services are working with families. The results demonstrate that the involvement of Aboriginal Maternal Infant Care (AMIC) Workers in the care of women during pregnancy is key to improving access and health outcomes. Over half of the 344 women who took part in the study experienced three or more stressful life events and social health issues in pregnancy. The most common issues were: being upset by family arguments, death of a family member, housing problems and being scared by other people’s behaviour. These findings are being used by early childhood services to inform tiered service delivery models, enabling more support to be given to families that need it the most.

“Our research is also focussing on what enables women, children and families to stay strong and do well despite significant hardships,” said lead investigator, A/Professor Stephanie Brown.


Maternal depression is more common four years after the birth of a first child than at any time in the first 12 months postpartum, according to a landmark study of over 1500 mothers by the Healthy Mothers Healthy Families research group.

Researchers also found almost one in three women reported depressive symptoms at some stage in the first four years after birth.

Lead researcher, Dr Hannah Woolhouse said, counter to the prevailing view that the perinatal period is a peak time of vulnerability to depression, the prevalence of depression was higher at four years postpartum than any point in the first 12 months after birth.

“The fact that almost one in three first time mothers reported depression on at least one occasion from early pregnancy to four years, coupled with the finding that the prevalence of depressive symptoms was highest at four years, suggests a need to rethink current models for maternal health surveillance and primary care support,” said Dr Woolhouse.

The study also found that women with one child at four years postpartum report significantly higher levels of depressive symptoms than women with two or more children.

Depression in mothers peaks four years post birth


1500 Participants

Women who experienced depression in the first 12 months were more likely to report depression at 4 years

1 in 3 women reported depressive symptoms at least once in the first 4 years after child birth

DEPRESSION PEAKS FOUR YEARS POST BIRTH

Depression in mothers after birth

10.1%

8.1%

9.5%

11.3%

14.5%

8.8%

Birth

Pregnancy

1 yr

2 yrs

3 yrs

4 yrs


With the support of the Institute and the Fiji Ministry of Health, more than 10,000 Fijian children have now been screened and treated.


World first in early detection of rheumatic heart disease

The work of Murdoch Childrens Research Institute extends beyond our national borders. Many of the Institute’s researchers work in developing communities, combatting diseases and infections that cause premature death in children.

A/Professor Andrew Steer is dedicated to finding a treatment for Group A Streptococcus (GAS), working predominantly in the Pacific region, including Fiji, Samoa, Tonga and the Solomon Islands. The diseases caused by GAS are a major cause of death and disability globally, especially in developing countries, leading to an estimated 500,000 premature deaths per year. GAS causes a wide array of clinical disease, from sore throat (commonly known as strep throat) and impetigo, to more serious post-infection complications including rheumatic heart disease (RHD).

In susceptible people, particularly those living in crowded conditions, untreated GAS can quickly turn into severe pain in the joints, high fever and shortness of breath - the early signs of RHD. For many, the warning signs come too late.

There is a particularly high burden of undiagnosed RHD in the Pacific island of Fiji, where A/Professor Steer has been working alongside local healthcare workers to aid early diagnosis of the disease. In fact, the Pacific region has the highest occurrence of RHD in the world and the mean age of death for RHD patients in Fiji is in their early 30’s.

As part of their preliminary studies, A/Professor Steer’s team found that RHD was more common in females and in children who attended school in a rural location. In a world first, the team provided field training for local health staff to perform an echocardiogram to screen children from 10 primary schools in Fiji for early symptoms of the disease. The echocardiogram was subsequently read by a paediatric cardiologist. Regular penicillin shots were administered to stop the progress of the disease for those children confirmed to have RHD.

With the support of the Fiji Ministry of Health, more than 10,000 Fijian children have now been screened and treated. In 2014, the Group A Streptococcal research group, along with key collaborative partners, were awarded $3 million from the New Zealand Government’s International Aid program to support ongoing work.

The results of A/Professor Steer’s work highlight the importance of highly accurate echocardiography in a region where early detection is so vital. The Fiji program acted as the pilot program and the team now looks to a much broader piece of work across the Pacific where diseases caused by GAS are at epidemic levels.

A/Professor Andrew Steer


Professor Susan Sawyer has dedicated her career to helping put the health of adolescents in the spotlight. As Director of the Centre for Adolescent Health, a collaboration between the Institute, The Royal Children’s Hospital (RCH) and the University of Melbourne, Professor Sawyer and her team are tackling some of the neglected and often taboo issues affecting teenagers today, including eating disorders.

The team is now at the tail end of an extensive research trial comparing two different forms of Family-Based Treatment (FBT) to treat young people suffering from Anorexia Nervosa (AN). The six month treatment equips parents with skills to return their children to a healthy relationship with food – and a healthy weight. To date, FBT has been shown to be the most effective treatment available for adolescents with AN.

When her teenage daughter Lucy became unwell, anxious and food obsessed, mother Belinda Caldwell had no idea she was suffering from AN. The family GP had not mentioned the possibility either.

“Lucy became unwell after returning from an overseas school trip where she lost weight. From the minute she returned she was a different child, her mood was very anxious and obsessive, she was very focussed on food and she started extreme compulsive exercising. I had no idea this was Anorexia Nervosa until she had to be admitted to RCH when she became medically unstable with a dangerously low heart rate.”

However, after successfully completing treatment using FBT, Belinda now describes Lucy as “a caring, responsible and funny girl”. Belinda, who has since become involved in Professor Sawyer’s team, admits that the therapy treatment is hard. “FBT is both gruelling and empowering. Making your child eat three large meals and three snacks daily – when eating is likened to throwing yourself out of a plane without a parachute- is super tough.”

Belinda has been involved in developing and facilitating a ‘Parent Skills and Support’ group for families undergoing FBT, a two-hour session which provides advice and a space for families to reflect on their

challenges and successes. She mirrors Professor Sawyer’s opinion that more needs to be done to support families.

“Eating disorders treatment is an area about which we know relatively little compared to other conditions. The irony here is that effective treatment can radically change the course of this illness and cost the health system far less than it often does,” Belinda said.

It is this engagement with families that motivates Professor Sawyer and her colleagues at the Murdoch Childrens and RCH.

“I am blessed to work in such a team, and it is this, together with the gratitude of parents, that keeps us all going. These young people and their families deserve a high quality service. Yet for decades, adolescents with eating disorders have been neglected by clinical and research communities alike. Quality research is critical to better understanding what type of clinical care young people should receive to recover from these complex conditions.”

A family-based approach to treating anorexia

“Quality research is critical to better understanding what type of clinical care young people should receive to recover from these complex conditions.” - Belinda Caldwell, Parent


Eating disorders not exclusive to those who are underweight

When most people think of anorexia, they think of people who are extremely underweight. However, the work of the Centre for Adolescent Health is helping us to better understand the complexity around eating disorder sufferers, including those with atypical AN.

The ‘typical’ adolescent with Anorexia Nervosa has a normal weight before becoming unwell, often losing five to 10 kilograms in six months, making them dangerously underweight.

In contrast, adolescents with ‘atypical’ AN are not underweight, despite having the same type of symptoms as those with AN and having lost a similarly large amount of weight. Many parents of teenagers in this situation are, at first, pleased that their child is losing weight. When parents appreciate that something is seriously wrong, the diagnosis can be much more challenging as many health professionals will be falsely reassured as the adolescent is not underweight.

Melissa Whitelaw, dietician in the RCH Eating Disorder service and PhD student

at Murdoch Childrens, recently published a study which found that over a six year period from 2005 to 2010, the RCH experienced a five-fold increase in the presentation of adolescents with atypical AN who were so unwell that hospitalisation was required. The team’s wider research shows that now, about one in three adolescents managed at the hospital with AN have the atypical form.

Melissa believes the dramatic increase in the proportion of adolescents admitted to hospital who were not yet underweight reflects increasing rates of obesity in adolescents.

“Obesity and eating disorders used to be considered as distinct health concerns with little overlap in patient populations. These data suggest that we need to be much more aware of the risks of eating disorders emerging in adolescents who are overweight.”

Professor Sawyer adds that, “Internationally, remarkably little is known about atypical AN. Research is critically needed to better understand the risks for this condition and what treatment works best.”

Professor Susan Sawyer


Women are advised not to drink during pregnancy to protect their babies. But can the occasional glass of wine cause harm? And what if a woman has already had a night out before finding out she is pregnant? The Institute is seeking to shed light on this contentious issue through the AQUA study.

Asking Questions about Alcohol (AQUA) is a longitudinal study, aimed at clarifying the complex effects of low to moderate prenatal alcohol exposure.

“Despite extensive research in the area, a direct correlation between lower levels of alcohol consumption and Fetal Alcohol Spectrum Disorders has been elusive,” says Senior Research Officer, Evi Muggli. “In other words, it’s not clear how much alcohol can be consumed before it has an impact on the developing baby.”

Approximately 30 per cent of women were abstinent throughout pregnancy. But the remainder either drank until they knew they were pregnant, or at varying levels throughout their pregnancy.

Researchers recruited almost 1600 pregnant women from Victoria as early as possible in pregnancy. Women have completed multiple surveys, focussed on questions about their alcohol consumption before falling pregnant, before they knew they were pregnant and in each trimester.

The team use specifically developed and tested questions incorporating amount, pattern and timing of alcohol exposure and collected information on factors that might influence the effects of alcohol in pregnancy such as the mother’s ability to metabolise alcohol, her diet, smoking, folate use, medication and body size. Women were also asked about their general wellbeing, obstetric history, past drinking habits, and the drinking habits of their partners and families.

After almost three years since recruitment, 85 per cent of women are still involved, a high proportion in medical research. “It shows that women have a vested interest in the study outcomes; they really do want evidence and information on this issue, especially around low levels of drinking during pregnancy,” said lead investigator, Professor Jane Halliday.

The results of the AQUA study could help inform women planning pregnancies, those who are currently pregnant and their doctors and midwives.

Study to answer uncertainties about alcohol in pregnancy

Evi Muggli & Professor Jane Halliday


Researchers from Murdoch Childrens have called for a change to the intravenous (IV) fluid currently administered to the majority of hospitalised children worldwide.

In a study published in prestigious journal The Lancet, a team led by Dr Sarah McNab showed that children who receive hypotonic IV fluid are at higher risk of developing a low blood sodium level, known as hyponatremia. Hypotonic IV fluids are currently administered to maintain hydration, but the fluids could cause rare but serious side effects, including death. When the sodium level in the body drops quickly, it can lead to brain swelling and death.

Researchers performed the largest and most diverse study of its kind in the world, comparing hypotonic IV fluid with isotonic fluid which contains almost double the amount of sodium. The study showed that children receiving the isotonic fluid had a lower risk of their blood sodium levels dropping, without an increase in other adverse effects.

Intravenous fluid is one of the most common medical interventions given to hospitalised children, but up until now the composition of the fluid used has been based on poor evidence. The study involved over 690 babies, children and teenagers, and is the largest inpatient trial to be performed at The Royal Children’s Hospital campus.

Dr McNab said the study should have widespread implications and based on the findings, the intravenous fluid that is given to all hospitalised children worldwide should change.

Call for change on common IV fluids

A/Professor Andrew Davidson & Dr Sarah McNab


SONNY Movement, an innovative software program developed by Murdoch Childrens and Melbourne-based digital health company, Curve Tomorrow, is helping children move again following injury and illness.

SONNY Movement is an assessment and rehabilitation platform targeted at children with brain injury and movement disorders. The program aims to improve accessibility to healthcare and health outcomes while also streamlining their assessments.

Incorporating the latest technology and trends, SONNY Movement allows for physical therapists to accurately capture movement measurements, which helps inform the most appropriate rehabilitation program for patients.

Murdoch Childrens researcher, Jane Galvin, says being able to assess children using SONNY Movement allows for a more streamlined, accurate and efficient process while also being fun and engaging for kids.

“A therapist will be able to log onto the system and see what tasks are working for the child and what areas the child needs to develop. Setting achievable milestones may sound like a small thing, but for children who are recovering from an illness or accident, accomplishing small milestones throughout their recovery can make all the difference and keep them motivated.”

SONNY Movement has been lauded in the medical technology industry, the biggest highlight coming in September, when it won a prestigious award in Silicon Valley. Head of Commercialisation and Legal Dr James Dromey, and Curve Tomorrow’s Mohinder Jaimangal presented the technology during the Launch! session at the Annual Fall Health 2.0 conference, taking out first place. It is the first time an organisation from outside America has won.

SONNY gets kids moving

1 2 3


“SONNY Movement allows us to analyse movements of the child in real time. By recording these movements we can collect accurate data that aids their rehabilitation, and this presents a unique opportunity to change the way children undergo assessment and therapy. ”- Dr James Dromey


Modern technology enables us to measure the world to finer and finer degrees of detail – whether we consider whole population groups, individuals, or cells and molecules. In this context, the Institute’s high level of expertise in the analysis and interpretation of data is central in keeping it at the cutting edge of science.

The Institute recognises the importance of statistics and related ‘data science’ disciplines to its research program and has internationally regarded expert researchers in these areas. Our expertise, greatly expanded over the past few years, is housed in the Data Science core, led by Professor John Carlin.

Maintaining the cutting edge in a data-rich world


“Swiss cheese” DNA In the last decade, scientists have discovered that DNA is like Swiss cheese – full of small holes, called “deletions”. Finding these holes, when they are small, takes very sophisticated computer algorithms. Last year the team found a deletion in a small boy’s DNA, which helped to understand why his genitalia developed incorrectly. The Bioinformatics team is working on improving computer algorithms for finding deletions, which will help to explain diseases that nobody has yet understood.

Filling the gaps in Natural Killer genes The Statistical Genetics team have developed an algorithm that can predict the structure of genes that control ‘Natural Killer’ cells, a type of white blood cell that fights viruses and cancer and also prepares the uterus during pregnancy. Previously, researchers ignored these genes because they could not measure them easily. The algorithm now makes it possible to study their effect on a range of different diseases and their role in healthy pregnancy.

Maximising the value of large-scale surveys with incomplete data Missing data are inevitable in almost all research studies and can undermine the results of a study if not handled appropriately in the statistical analysis. The Biostatistics team has contributed internationally recognised research on an increasingly popular method for handling this problem, called multiple imputation. This method is now a standard approach for dealing with missing data and the research by the team is helping to ensure that it is applied appropriately and successfully to a wide range of epidemiological studies.


Imagine trying to say a word only to feel like the letters are stuck in your throat. This is what people living with a stutter have to endure every day.

With the most likely cause of a stutter being a mechanical glitch in the brain, the treatment becomes more about management than remedy.

Societal pressure and environmental factors can cause adults to feel as though their stutter is completely debilitating, leaving them with an increased chance of developing an anxiety disorder.

Kylie Smith, a speech pathologist and second year PhD student in the Hearing, Language and Literacy research group is currently using her PhD research to find an early intervention method for determining at what age an individual’s stutter has the potential to cause anxiety.

“Adults who stutter have a significantly increased risk of developing an anxiety disorder, however young children who stutter show no indication of increased anxiety,” Kylie said.

Kylie’s research aims to identify the age at which older children feel this type of anxiety.

“This knowledge will help to inform the development of prevention and early intervention speech and psychological programs. Ultimately, I hope it will contribute to achieving better outcomes for children who stutter.”

Kylie hopes that her work at Murdoch Childrens will give future insight into the long term effects of anxiety in children, as well as investigating “interventions that use technology and the internet to treat anxiety in stuttering with children.”

Having previously worked as a clinician and Research Assistant for the Institute, obtaining her PhD seemed like a natural step for her to take.

Kylie’s research on anxiety in older children with stuttering has been highly recognised, and she is excited about what’s to come.

“I look forward to completing my data analysis and seeing where it takes us!” she said.

Student profile Kylie Smith

“There are great opportunities to network, learn and get involved in many different ways. I feel like I have an incredible advantage starting my research career here.”

Kylie Smith


Nicholas Ryan is using neuroimaging to investigate the impact of traumatic injury (TBI) on the developing brain and identify children and adolescents at risk of developing persisting social and behavioural impairment as a result of their injury.

“Research tells us that certain stages throughout childhood and adolescence represent critical periods of brain development,” says the PhD and Clinical Masters student.

“As clinicians and researchers, we are best placed to translate this knowledge into individually tailored assessments, treatments and interventions, which aim to improve outcomes for children and adolescents with neurodevelopmental impairment.”

Nicholas is also working on the TakeCare project, a longitudinal prospective study that aims to understand the factors affecting neurodevelopmental impairment, as well as factors affecting recovery from a concussion head injury.

“The study findings will ultimately inform guidelines for children returning to sport, as well as assist to identify ‘at risk’ children who may benefit from ongoing monitoring and intervention after their initial presentation to the emergency department.”

Preliminary findings from Nicholas’ PhD, published in the journal Human Brain Mapping, suggest that high-resolution neuroimaging of children with TBI may assist to identify patients who exhibit social impairments later in life. The study also found that adolescents with brain injury are at heightened risk for persisting social deficits due to the rapid structural and functional brain development that occurs during the teenage years.

Student profile Nicholas Ryan

Nicholas Ryan

In Australia one in 45 people are living with a brain injury, of those 20,000 are under the age of 15.


For the second Step-a-thon for Kids, held September 2014, kids from all across the country put on their colourful slap band pedometers and counted their steps in a campaign that was all about getting children moving, healthy and active. Institute Ambassador and Board Member Sarah Murdoch launched the event in July at the Sydney Cricket Ground, joined by local school kids and fellow ambassadors from all sporting codes.

Step-a-thon for kids 2014

17,429 Participants

39% Increase in overall fundraising

200 + Media stories

50% + Of Australian primary schools were represented

Fundraising summary

32,646 Donations

$870,000 Raised for life saving child health research


I just wanted to pass on my thanks to Sarah Murdoch and the amazing team at the Institute for all working together to create such a fantastic event.

It’s been a big week for young Fletch. He woke up so excited each morning last week. He loved seeing the numbers grow on his pedometer with every step of activity throughout his day. As much as he can, he understands the importance of staying physically active and fuelling his body correctly but the novelty and importance of his Step-a-thon goals really encouraged him without taking the fun out of it. This is something I often struggle with; after all he is still just a kid and our routine, therapies and strict diet isn’t always fun.

We are beyond honoured to have been able to smash our donations goal. We couldn’t possibly have imagined we would raise the amount we have. It’s very touching to realise that so many of our friends, family and most amazingly complete strangers, are so generous at digging deep when it came to sponsoring Fletch and in turn Murdoch Childrens Research Institute.

We aren’t able to personally donate a huge amount so to contribute what we have raised makes us feel special.

Life is so full of unexpected moments, both good and bad. For whatever reason life threw us a few challenges when it came to our precious baby boy. The hardest part to comprehend as a parent is that Fletch faces these challenges at such a young age. And there are plenty of other gorgeous souls born with a much harder journey. We have learnt first hand that health is the most important thing; no matter who you are or where you come from we’re all vulnerable. So whatever can be done to work towards cures, medications, and treatments is miracle work.

An honest heart felt thank you for all your hard work, passion and commitment for the little people in our lives.

See you next year Fletcher & Callie X

Callie Adams’ son Fletcher participated in Step-a-thon for the first time in 2014 and was featured in his local Western Australian paper during the event. Four year old ‘Fletch’ has an undiagnosed condition that has affected his development. He needs weekly physical therapy sessions, is wobbly on his feet and has an increased appetite, but none of this stopped him being as involved as possible. In fact by the end of Step-a-thon Fletcher took over 58,000 steps and inspired kids all over Australia to get moving too!

His mum Callie was so pleased with how Step-a-thon motivated and excited Fletcher that she wrote to the Institute.

Step-a-thon star


The inaugural Dame Elisabeth Murdoch Rose Appeal was launched in 2014. The campaign aims to honour the extraordinary legacy of Dame Elisabeth, founding Patron of the Institute. Dame Elisabeth demonstrated enormous commitment throughout her lifetime to child health and was a great supporter of all aspects of research at the Institute.

In May, Mrs Paula Fox kindly hosted an intimate garden party at her home in Sydney to launch the 2014 appeal, where guests included Sarah Murdoch, Mrs Roslyn Packer AO and Lady Primrose Potter AC. A keynote address was delivered by Prof the Honourable Dame Marie Bashir AD CVO, now the former Governor of NSW.

Brian Kirk, whose eight year old daughter Miranda suffers from a rare and debilitating genetic condition called mitochondrial disease, spoke movingly about how Institute researchers had helped to successfully diagnose Miranda’s condition. Whilst Miranda continues to deal with a range of health challenges, Brian was grateful that the advancements in diagnosis and research had enabled her to access targeted treatment. Funds raised from the event facilitated the establishment of a vitally important new Confocal Microscopy Suite.

In addition to the launch there was an extensive outreach campaign in which women from across the community were invited to support child health research. The campaign attracted many new donors to the Institute and generated extensive publicity focussing on the key health issues facing children today.

Dame Elisabeth Murdoch Rose Mother’s Day Campaign

“Dame Elisabeth is such an inspiration to so many people”- Paula Fox


1. Marianne Kirk, Professor the Hon. Marie Bashir, Prof Kathryn North, Sarah Murdoch and Brian Kirk2. Paula Fox, Prof Kathryn North and Roslyn Packer3. Natalie Barr and Edwina Bartholomew from Sunrise4. The late Dame Elisabeth pictured with children on her beloved Cruden Farm5. Sarah Murdoch and Paula Fox6. Guests at a garden party featured in the May 2014 edition of the Australian Women’s Weekly7. Appeal launch host Lisa Wilkinson from the Today Show

1 2

3 4

5

6 7


Honouring Ryan through support for a cure

In October 2014 over 500 people attended the inaugural Ryan Donald Ball at to celebrate the life of the late Ryan Donald.

Two years earlier, Ryan, a healthy 17 year old teenager from Lilydale, came home from football practice, went to bed and then tragically died in his sleep.

The cause of his sudden death could not be determined from an autopsy, leaving doctors to attribute his death to SADS or ‘Sudden Arrhythmic Death Syndrome’. SADS is an umbrella term for many different genetic heart rhythm conditions.

Genetic heart rhythm conditions cause lethal electrical abnormalities or arrhythmias that make the heart stop suddenly.

These electrical abnormalities cannot be ‘seen’ when the heart is examined after death, and can sometimes be difficult to diagnose during life.

SADS predominately comes without warning and is responsible for around 400 deaths annually in people under 40 in Australia.

The ball raised $22,000, which was donated by the newly founded Ryan Donald Memorial fund to Murdoch Childrens for genetic research into SADS.

The fund was created by Ryan’s family in the hope that the money raised will assist in preventing other families from suffering like they have.

One of the difficulties in diagnosing genetic heart rhythm conditions is that for some people, the first manifestation is sudden death.

Ivan Macciocca from the Clinical Genetics research group at Murdoch Childrens believes that genetic testing can play a key role in providing some families with an explanation for the unexpected loss of their loved one.

“We plan to use medical and genetic information from people from affected families to improve diagnosis which may lead to earlier identification and better management of these conditions, thereby potentially preventing sudden death.”

Some of these conditions can be detected by performing certain heart tests for example, an electrocardiogram or ECG or exercise stress test, or in some families, by performing genetic tests aimed at identifying a gene mutation that may be the cause of the condition.

If the mutated gene is detected, lifesaving treatments such as medication or implantable cardioverter defibrillators (ICD) can be prescribed.

The generous funds raised by the Ryan Donald Foundation will go towards activities to improve understanding and management of genetic heart disease.


The fund was created by Ryan’s family in the hope that the money raised will assist in preventing other families from suffering like they have.

Our corporate partners provide significant financial support for our research as well as helping promote the Institute to new audiences.Philanthropic funding from organisations allows us to seed fund new ground breaking research into the big health issues currently affecting Australian children.For further information visit www.mcri.edu.au/get-involved/corporate

Thank you to our corporate partners which supported us in 2014.

You have the power to help the Murdoch Children Research Institute save kids’ lives. With your support, our researchers can continue to discover cures for conditions including diabetes, cancer, allergies, premature birth, obesity and genetic conditions. Donate today.

1300 766 439 | www.mcri.edu.au

Tomorrow’s cures need your donations today

Murdoch Childrens Research InstituteThe Royal Children’s Hospital Flemington Road, Parkville Victoria 3052 Australia

Phone +61 3 8341 6200 Fax +61 3 9348 1391 www.mcri.edu.au

ABN 21 006 566 972

Date post:	22-Jul-2016
Category:	Documents
Upload:	murdoch-childrens
View:	214 times
Download:	1 times

Murdoch Childrens Research Institute Annual Report 2014

Documents