Murdoch Childrens Research Institute Annual Report 2014

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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

27

IMPROVING HEALTH OUTCOMES FOR ABORIGINAL FAMILIES

28

DEPRESSION IN MOTHERS PEAKS FOUR YEARS POST BIRTH

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

ROTAVIRUS VACCINE CANDIDATE PROVEN TO BE EFFECTIVE IN CLINICAL TRIALS

36

SONNY GETS KIDS MOVING

INVESTIGATING ALLERGIES IN THE FOOD ALLERGY CAPITAL

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

04

CHAIRMAN’S REPORT

06

DIRECTOR’S REPORT

09

BOARD OF DIRECTORS

10

CENTRE FOR CEREBRAL PALSY RESEARCH CONTINUES WORLD LEADING WORK

12

14

16

18

20

TACKLING THE EPIDEMIC OF ADULT CHRONIC DISEASES IN CHILDHOOD

INHALED VACCINES COULD SEE THE END OF NEEDLE VACCINATIONS IVF BABIES GROW UP TO BE HEALTHY ADULTS

22

A PARENT’S PERSPECTIVE: ACHONDROPLASIA DRUG TRIAL

24

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

26

EXPLORING THE SCIENCE BEHIND CHILDHOOD OBESITY

Campus partners

Research themes

R

W

Children’s Hospital and the University of

make genuine changes to the delivery of health and education.

esearchers work side by side with health

professionals and academics at The Royal

orking across five main research themes, the Institute

conducts nationally and internationally recognised studies to

Melbourne’s Department of Paediatrics. Using this model – of building research teams involving staff from all three organisations and working on

Cell Biology

problems in an integrated way – promotes faster

The Cell Biology Theme investigates how cells work and how

and more effective translational outcomes leading

disease processes alter healthy cells in order to help children

to early intervention and prevention for 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.

02 MURDOCH CHILDRENS Annual Report 2014

Year at a glance

35%

2014 Annual Report MURDOCH CHILDRENS 03

Mr Leigh Clifford AO A message from the Chairman

“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.�

04 MURDOCH CHILDRENS Annual Report 2014

I

n my time as Chairman, I have seen the Institute

I would like to thank our Board members for their

go from strength to strength, to become the leading

generous service and continued commitment in

child health research Institute in Australia today.

2014. The Board is critical to the future direction

Due to the quality of research undertaken at the

of the Institute and Board members have taken

Institute, our scientists are best placed to tackle

considerable interest in promoting the impressive

the big problems facing kid’s today such as obesity,

research conducted at Murdoch Childrens to

allergies, cardiovascular disease, rare and common

the public. The past year saw some changes to

genetic diseases.

the Board as we welcomed two new members,

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

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.

the Institute celebrated great success in attracting

Most importantly, I would like to thank and

major international funding, including over $18

congratulate our researchers and support staff

million from The Bill & Melinda Gates Foundation.

for their continued commitment and enthusiasm

The Foundation have recognised the calibre of

in bringing about long term changes for future

the Institute’s researchers in carrying out global

generations.

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.

2014 Annual Report MURDOCH CHILDRENS 05

Professor Kathryn North AM A 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.�

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A

s we are based within a hospital, many of our

show that the vaccine is effective in over 90 per

researchers are also clinicians so they can use

cent of babies and a more extensive trial is now

research to solve problems they are confronted

underway in Indonesia. This oral birth dose vaccine

with in their daily work with children and families.

has the potential to save over half a million lives

Likewise, when our researchers in the lab make a

each year, mostly in developing countries.

discovery, this can be quickly communicated and transformed into a practical treatment for children in hospital and the community.

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

In 2014, the Institute entered a new era – with

for needle vaccinations. Researchers found a novel

the commencement of some of our most

way of turning a liquid vaccination into an aerosol

exciting research initiatives to date. Our recently

and then used this finding to develop a device to

established Genomics Centre has already made

deliver the vaccine by inhalation. This device has

significant progress. Our approach – starting with

the potential to simplify the way vaccines are given

the patient and developing a whole-of-system

worldwide and could mean more children have

that is focussed on improving patient care and

access to vaccinations.

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

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.

2014 Annual Report MURDOCH CHILDRENS 07

08 MURDOCH CHILDRENS Annual Report 2014

Board of Directors

Leigh Clifford Chairman AO

Professor Kathryn North Director AM

Suzi Carp

Steven Casper

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

Company Secretary John Dakin 2014 Annual Report MURDOCH CHILDRENS 09

Centre for cerebral palsy research continues world leading work

C

The Centre utilises the Murdoch Childrens

physical disability in childhood, occurring

led Victorian Cerebral Palsy Register,

in about two of every thousand live births.

which has grown to be one of the largest

In Australia, there are about 700 new

cerebral palsy databases in the world

cases each year, and a total of 34,000

and has been used as the basis for 68

people have cerebral palsy. Cerebral palsy

studies to date. Many of the studies have

produces a higher disability burden (in

resulted in changes to clinical practice.

terms of years of healthy life lost) than

For example, the finding that children with

blindness, deafness, diabetes or heart

severe cerebral palsy require more regular

failure. Despite the frequency and severity

hip x-rays than those with mild cerebral

of the condition, there remain major gaps

palsy has enabled establishment of hip

in assessment and management.

surveillance guidelines for the frequency

erebral palsy is the most common

The Institute has a long history of research and advocacy in cerebral palsy,

The Centre has already cemented its

spearheaded by renowned clinician and

position as a world leader in cerebral

researcher Professor Dinah Reddihough.

palsy research, taking on an ethos of

In 2013, the Institute was awarded a

input and inclusion from stakeholders;

prestigious five year Centre of Research

whether they be people with cerebral

Excellence grant by the National Health

palsy or their families, disability

and Medical Research Council, to improve

support providers, researchers, health

the physical, mental, social and emotional

professionals or policy holders.

health and wellbeing of children with cerebral palsy and their families.

10 MURDOCH CHILDRENS Annual Report 2014

of hip x-ray examination.

Patient involvement key to Centre’s work

C

Mum Vicki is thrilled that the family are

a team of five family representatives

contributing to new knowledge in the field.

working closely with researchers to ensure

“I feel privileged to have the opportunity to

research outcomes are meaningful and

be part of a community that always strives

relevant to those living with cerebral palsy.

to improve the lives of those affected by

Parent representative Vicki Cavalieros

cerebral palsy and to reap the benefits of

is involved with the Centre in various

such a high standard of care, personally.”

entral to the program of work is

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.

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

“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

2014 Annual Report MURDOCH CHILDRENS 11

Tackling the epidemic of adult chronic diseases in childhood

R

esearchers 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

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.

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.”

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.

12 MURDOCH CHILDRENS Annual Report 2014

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.

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.

2014 Annual Report MURDOCH CHILDRENS 13

Rotavirus vaccine candidate proven to be effective in clinical trials

T

“These results are a major step forward.

celebrated another pivotal milestone in 2014

Not only have we shown that this novel

with their rotavirus vaccine candidate having

vaccine is well tolerated in newborns but

been found to provide a strong immune

it produces a strong immune response,

response in over 90 per cent of babies that

suggestive of promoting early protection

received a course of the vaccine.

from severe rotavirus gastroenteritis.”

Rotavirus is the most common cause

“The advantage of this vaccine over the

of severe diarrhoea among infants and

currently available vaccines is the birth dose

young children and results in the death

which is the earliest opportunity to provide

of over half a million children under five

protection to babies from severe rotavirus

years of age worldwide each year, mainly in

gastroenteritis. This world-first approach

developing countries.

has enormous potential to reduce disease

he rotavirus team at the Institute

The clinical trial, which was done in collaboration with the University of Otago in

around the world.”

New Zealand, involved 95 babies receiving a

The ‘RV3’ rotavirus vaccine candidate has

course of three doses of the vaccine, with the

been developed from a unique strain of

first dose within the first days following birth.

rotavirus that was found naturally in healthy

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.

14 MURDOCH CHILDRENS Annual Report 2014

and dying in the most vulnerable children

asymptomatic newborn babies, who were then protected from severe rotavirus diarrhea in the first three years of life.

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.”

2014 Annual Report MURDOCH CHILDRENS 15

Investigating allergies in the food allergy capital

A

ustralia 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.

Professor Katie Allen

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Diet

Dogs

Vitamin D

For babies: The allergy team found that

A 2012 Institute study found having a dog

Our researchers found infants who are

parents who delay giving their babies

that lives in the home could reduce the

vitamin D deficient were three times

allergenic foods could be doing more harm

likelihood of allergies in infants. The study

more likely to have an egg allergy and

than good, with a 2011 study showing the

also found that having older siblings

11 times more likely to have a peanut

rate of egg allergy significantly increases

reduces a child’s likelihood of developing

allergy. Those with vitamin D deficiency

among toddlers who are introduced to the

an allergy. This finding supports the

were also more likely to have multiple

food after 12 months of age. The research

‘hygiene hypothesis’ which is a theory

rather than single food allergies, with the

finding contributed to the changes in the

which states that the immune system

odds increasing to 10 times more likely

National Infant Feeding Guidelines which

needs to be exposed to appropriate

among those with two or more food

now recommend that parents should

stimulation during development so that

allergies. Researchers at the Institute are

introduce solids such as eggs around the

it is ‘trained’ to attack things that might

now undertaking a study which aims to

age of six months, not after 10 months as

cause us harm (such as bacterial or viral

find out if vitamin D supplements in the

initially directed. This is supported by new

infections) while ignoring harmless things

first year of life reduces the risk of food

research suggesting the same for peanuts.

such as foods. A research trial at the

allergy and other early life illnesses such

Institute has commenced to test whether

as wheezy bronchiolitis. Since Australia

the anti-TB vaccine (BCG) can kick start

is one of the few Westernised countries

the immune system in a similar way and

that does not fortify the food chain supply

prevent allergic disease in early life.

with vitamin D, this research will provide

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

world first evidence about the role of the ‘sunshine vitamin’ in early development of the immune system.

Dry skin

Dirt

Researchers identified an ‘eczema gene’

Another finding that supports the hygiene

which increases a persons risk of being

hypothesis is a study which found that

sensitive to common allergic foods.

when babies used pacifiers that had

Researchers say the findings support the

been dropped on the ground, their risk of

hypothesis that sensitisation to food can

allergy was lower.

occur through the skin and dry skin may increase the risk for infants to become sensitised to common allergenic foods.

2014 Annual Report MURDOCH CHILDRENS 17

Inhaled vaccines could see the end of needle vaccinations

R

esearchers 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.

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“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

1

2

4

3

BATTERY

WAVES

VACCINE

PARTICLES

A 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.

5

INHALE Mist which contains the medication is inhaled and the vaccine reaches the lung.

YOU

LUNGS

The 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.

The 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.

RESPIRE TM

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.

2014 Annual Report MURDOCH CHILDRENS 19

Leanne & Olivia Vink

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IVF babies grow up to be healthy adults

Y

However the study, published in Fertility

other assisted reproductive technologies

and Sterility, concluded there was little

(ART) are no different in terms of health

evidence of significant health disparities,

and wellbeing to similar aged people

which is good news for parents who are

conceived without ART, a study led by

unable to conceive naturally.

oung adults conceived through IVF and

Professor Jane Halliday found.

Leanne Vink’s daughter, Olivia was

Researchers interviewed 656 mothers

conceived through IVF at the Royal

who used ART and their 547 young

Women’s Hospital and the pair are

adult offspring aged between 18 and 29

involved in the study. Olivia is now 23.

years and compared this to reports from mothers and their young adult offspring who were conceived naturally.

“I was very reassured by the study results, to see that there was no increase in any type of abnormality. These are just normal,

Although they might carry a slightly higher

gorgeous kids who needed a little bit of

risk of some illnesses such as asthma,

‘technology’ to get here!”

adults conceived through ART had similar quality of life to non-ART children along with a normal body mass index and pubertal development.

The study will continue to bring the young adults in for clinical examination and

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

- Leanne Vink, Mother

follow them as they age to see if other health issues emerge.

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.

2014 Annual Report MURDOCH CHILDRENS 21

A parent’s perspective: Achondroplasia Drug Trial

By Natalie Puleio

O

Our main motivation for being involved with this

few issues he came home to our small country town

trial has been our confidence in Dr Ravi and his

of Robinvale. Soon after though, our paediatrician

team, who have been working tirelessly to find a

told us Sam’s growth was of concern. After this, we

new treatment for kids like Sam. We know that Dr

were sent to Melbourne to visit Dr Ravi Savarirayan,

Ravi is so passionate about finding a way to help

where Sam underwent some tests. Following this,

benefit his patient’s livelihoods. We feel blessed

Sam was diagnosed with achondroplasia, the most

that we are able to be involved with his work. Sam

common type of dwarfism.

is an active, healthy boy and we want to give him

ur son Sam was born six weeks early and with

As parents we were naturally devastated and had little idea of what this diagnosis might mean for

the chance to continue his active life; that would be the one wish we as a family could ask for.

Sam; how it would affect him physically, mentally

Throughout the study, Sam has been

and socially. We went through every type of emotion

cooperating extremely well with nurses taking

you can think of, from feelings of guilt, denial, anger

blood, measuring him, observing him. He also has

and frustration, to love and joy, all at once.

daily injections which were a little emotional for

In October 2012 we received a letter from Dr Ravi, a clinical geneticist and researcher at Murdoch Childrens Research Institute, regarding a growth

him at the start but he now understands the reason behind them and is comfortable with them. He feels quite important at times!

study trial which would be followed by a drug

We have annual appointments with Dr Ravi and we

trial. Sam was put onto a list and luckily met the

always remember Dr Ravi saying “Sam is Sam and

extensive criteria.

no one else”. Sam is now 10 and his life is normal,

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.

22 MURDOCH CHILDRENS Annual Report 2014

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

Drug trial for dwarfism

Professor Ravi Savarirayan & Sam

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 averagesized 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.

2014 Annual Report MURDOCH CHILDRENS 23

Genomic technologies set to revolutionise healthcare 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.

Amy Clarke & Louis

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.

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

By Amy Clarke

I

We had not been told this was even a possibility -

news possible. Our youngest child Louis, was

not at any stage of the year nor at any point in the

diagnosed with a terminal metabolic condition. It is

research process. We were now told that whilst

an incurable, progressive disease which affects the

the damage Louis had sustained to his brain was

way cells work and which had severely impacted

irreparable, careful and consistent medication

upon our little boy’s muscle and brain development.

would ensure he did not experience any further

n January 2014 our family received the worst

Louis had been suffering terribly from nerve pain for a few weeks, and had gone from being an exceptionally happy child to not recognising

damage. He will be very different from most people, particularly in relation to his physical mobility, but he will now live a full life.

us because he was so uncomfortable. We were

Martin and I returned to our room in the hospital –

advised that Louis’ prognosis was poor and that

where Louis was asleep in his bed – and held each

his life expectancy was uncertain but certainly

other and cried. We couldn’t quite comprehend the

very short. We were devastated when he was

change in our lives and the change to our families’

diagnosed, as were our family and friends. He was

lives – particularly for our other children, Noah and

five months old. We cried often, and were in terrible

Nina. They were no longer going to lose a sibling.

pain, but somehow we managed to keep going and

Our siblings were no longer going to lose a nephew,

most importantly, to enjoy the little time we had left

and our parents were no longer going to lose a

with our beautiful youngest child.

grandson. It all seemed incredibly surreal and it

Eight months later Louis was hospitalised with a

took days to sink in.

chest infection. But while my husband Martin and I

Our family has challenging times ahead but we

were at The Royal Children’s Hospital with him the

believe those times will be full of wonder and joy.

most amazing thing happened. We were asked to

Instead of becoming four, we will remain as five,

meet with one of Louis’ medical teams and they told

and that is so much more than Martin and I have

us that a research project we had taken part in had

been able to hope for all year. We will never be able

produced results. The research team had isolated

to express adequately the profound and joyous

the gene which had produced Louis’ terrible illness

effect the research team’s efforts have had upon

and beyond any expectations, it was found to be a

ours, our families, and our friends’ lives.

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.

2014 Annual Report MURDOCH CHILDRENS 25

Exploring the science behind childhood obesity

W

ith 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

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

weight status.

obesity or early weight-related complications.”

Working within the multidisciplinary Weight

Other factors, such as those involved with the

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.

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.

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

26 MURDOCH CHILDRENS Annual Report 2014

A/Professor Matt Sabin

Improving health outcomes for Aboriginal families

T

he 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

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

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.

do well despite significant hardships,” said lead investigator, A/Professor Stephanie Brown.

Aboriginal families.

2014 Annual Report MURDOCH CHILDRENS 27

Depression in mothers peaks four years post birth

M

aternal depression is more common four

“The fact that almost one in three first time

years after the birth of a first child than at any

mothers reported depression on at least one

time in the first 12 months postpartum, according

occasion from early pregnancy to four years,

to a landmark study of over 1500 mothers by the

coupled with the finding that the prevalence of

Healthy Mothers Healthy Families research group.

depressive symptoms was highest at four years,

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.

28 MURDOCH CHILDRENS Annual Report 2014

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.

Pregnancy 1500 Participants

8.8%

Depression in mothers after birth

Birth 8.1%

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

10.1% 1 yr

9.5% 11.3%

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

3 yrs

4 yrs

14.5%

DEPRESSION PEAKS FOUR YEARS POST BIRTH

2014 Annual Report MURDOCH CHILDRENS 29

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

30 MURDOCH CHILDRENS Annual Report 2014

World first in early detection of rheumatic heart disease

T

As part of their preliminary studies, A/Professor

Institute extends beyond our national borders. Many

Steer’s team found that RHD was more common

of the Institute’s researchers work in developing

in females and in children who attended school in

communities, combatting diseases and infections

a rural location. In a world first, the team provided

that cause premature death in children.

field training for local health staff to perform an

he work of Murdoch Childrens Research

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

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.

in developing countries, leading to an estimated

With the support of the Fiji Ministry of Health, more

500,000 premature deaths per year. GAS causes

than 10,000 Fijian children have now been screened

a wide array of clinical disease, from sore throat

and treated. In 2014, the Group A Streptococcal

(commonly known as strep throat) and impetigo,

research group, along with key collaborative

to more serious post-infection complications

partners, were awarded $3 million from the New

including rheumatic heart disease (RHD).

Zealand Government’s International Aid program to

In susceptible people, particularly those living in

support ongoing work.

crowded conditions, untreated GAS can quickly

The results of A/Professor Steer’s work

turn into severe pain in the joints, high fever and

highlight the importance of highly accurate

shortness of breath - the early signs of RHD. For

echocardiography in a region where early detection

many, the warning signs come too late.

is so vital. The Fiji program acted as the pilot

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

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.

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.

A/Professor Andrew Steer

2014 Annual Report MURDOCH CHILDRENS 31

“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

A family-based approach to treating anorexia

P

rofessor Susan Sawyer has dedicated

“Lucy became unwell after returning from

challenges and successes. She mirrors

her career to helping put the health of

an overseas school trip where she lost

Professor Sawyer’s opinion that more

adolescents in the spotlight. As Director

weight. From the minute she returned

needs to be done to support families.

of the Centre for Adolescent Health, a

she was a different child, her mood was

collaboration between the Institute, The

very anxious and obsessive, she was very

Royal Children’s Hospital (RCH) and

focussed on food and she started extreme

the University of Melbourne, Professor

compulsive exercising. I had no idea this

Sawyer and her team are tackling some

was Anorexia Nervosa until she had to

of the neglected and often taboo issues

be admitted to RCH when she became

affecting teenagers today, including

medically unstable with a dangerously low

eating disorders.

heart rate.”

The team is now at the tail end of an

However, after successfully completing

extensive research trial comparing two

treatment using FBT, Belinda now describes

different forms of Family-Based Treatment

Lucy as “a caring, responsible and funny

(FBT) to treat young people suffering

girl”. Belinda, who has since become

from Anorexia Nervosa (AN). The six

involved in Professor Sawyer’s team,

month treatment equips parents with

admits that the therapy treatment is hard.

skills to return their children to a healthy

“FBT is both gruelling and empowering.

relationship with food – and a healthy

Making your child eat three large meals and

weight. To date, FBT has been shown to be

three snacks daily – when eating is likened

the most effective treatment available for

to throwing yourself out of a plane without

adolescents with AN.

a parachute- is super tough.”

When her teenage daughter Lucy became

Belinda has been involved in developing

unwell, anxious and food obsessed,

and facilitating a ‘Parent Skills and Support’

mother Belinda Caldwell had no idea she

group for families undergoing FBT, a

was suffering from AN. The family GP had

two-hour session which provides advice

not mentioned the possibility either.

and a space for families to reflect on their

32 MURDOCH CHILDRENS Annual Report 2014

“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.”

Professor Susan Sawyer

Eating disorders not exclusive to those who are underweight

W

hen most people think of anorexia,

at Murdoch Childrens, recently published

they think of people who are extremely

a study which found that over a six year

underweight. However, the work of the

period from 2005 to 2010, the RCH

Centre for Adolescent Health is helping us

experienced a five-fold increase in the

to better understand the complexity around

presentation of adolescents with atypical

eating disorder sufferers, including those

AN who were so unwell that hospitalisation

with atypical AN.

was required. The team’s wider research

The ‘typical’ adolescent with Anorexia Nervosa has a normal weight before becoming unwell, often losing five to 10

shows that now, about one in three adolescents managed at the hospital with AN have the atypical form.

kilograms in six months, making them

Melissa believes the dramatic increase in

dangerously underweight.

the proportion of adolescents admitted

In contrast, adolescents with ‘atypical’ AN are not underweight, despite having the same type of symptoms as those with AN

to hospital who were not yet underweight reflects increasing rates of obesity in adolescents.

and having lost a similarly large amount of

“Obesity and eating disorders used to be

weight. Many parents of teenagers in this

considered as distinct health concerns with

situation are, at first, pleased that their child

little overlap in patient populations. These

is losing weight. When parents appreciate

data suggest that we need to be much

that something is seriously wrong, the

more aware of the risks of eating disorders

diagnosis can be much more challenging

emerging in adolescents who are overweight.”

as many health professionals will be falsely reassured as the adolescent is not underweight.

Professor Sawyer adds that, “Internationally, remarkably little is known about atypical AN. Research is critically needed to better

Melissa Whitelaw, dietician in the RCH

understand the risks for this condition and

Eating Disorder service and PhD student

what treatment works best.”

2014 Annual Report MURDOCH CHILDRENS 33

Study to answer uncertainties about alcohol in pregnancy

W

omen are advised not to drink during

tested questions incorporating amount,

the occasional glass of wine cause harm?

pattern and timing of alcohol exposure

And what if a woman has already had a

and collected information on factors that

night out before finding out she is pregnant?

might influence the effects of alcohol in

The Institute is seeking to shed light on this

pregnancy such as the mother’s ability

contentious issue through the AQUA study.

to metabolise alcohol, her diet, smoking,

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 Evi Muggli & Professor Jane Halliday

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.

34 MURDOCH CHILDRENS Annual Report 2014

The team use specifically developed and

pregnancy to protect their babies. But can

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.

Call for change on common IV fluids

R

Intravenous fluid is one of the most

have called for a change to the intravenous

common medical interventions given to

(IV) fluid currently administered to the

hospitalised children, but up until now the

majority of hospitalised children worldwide.

composition of the fluid used has been

esearchers from Murdoch Childrens

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

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.

blood sodium level, known as hyponatremia.

Dr McNab said the study should have

Hypotonic IV fluids are currently

widespread implications and based on

administered to maintain hydration, but

the findings, the intravenous fluid that is

the fluids could cause rare but serious side

given to all hospitalised children worldwide

effects, including death. When the sodium

should change.

level in the body drops quickly, it can lead to brain swelling and death.

Researchers performed the largest and A/Professor Andrew Davidson & Dr Sarah McNab

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.

2014 Annual Report MURDOCH CHILDRENS 35

SONNY gets kids moving

S

ONNY Movement, an innovative software

“A therapist will be able to log onto the system

program developed by Murdoch Childrens and

and see what tasks are working for the child and

Melbourne-based digital health company, Curve

what areas the child needs to develop. Setting

Tomorrow, is helping children move again following

achievable milestones may sound like a small

injury and illness.

thing, but for children who are recovering from an illness or accident, accomplishing small milestones

SONNY Movement is an assessment and

throughout their recovery can make all the

rehabilitation platform targeted at children with brain injury and movement disorders. The program

difference and keep them motivated.�

aims to improve accessibility to healthcare and

SONNY Movement has been lauded in the medical

health outcomes while also streamlining their

technology industry, the biggest highlight coming

assessments.

in September, when it won a prestigious award in Silicon Valley. Head of Commercialisation and Legal

Incorporating the latest technology and trends,

Dr James Dromey, and Curve Tomorrow’s Mohinder

SONNY Movement allows for physical therapists

Jaimangal presented the technology during the

to accurately capture movement measurements,

Launch! session at the Annual Fall Health 2.0

which helps inform the most appropriate

conference, taking out first place. It is the first time

rehabilitation program for patients.

an organisation from outside America has won.

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.

1

36 MURDOCH CHILDRENS Annual Report 2014

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

2014 Annual Report MURDOCH CHILDRENS 37

Maintaining the cutting edge in a data-rich world

M

odern 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.

38 MURDOCH CHILDRENS Annual Report 2014

“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.

2014 Annual Report MURDOCH CHILDRENS 39

Kylie Smith

Student profile Kylie Smith

I

“Adults who stutter have a significantly increased

letters are stuck in your throat. This is what people

risk of developing an anxiety disorder, however

living with a stutter have to endure every day.

young children who stutter show no indication of

magine trying to say a word only to feel like the

With the most likely cause of a stutter being a

increased anxiety,” Kylie said.

mechanical glitch in the brain, the treatment

Kylie’s research aims to identify the age at which

becomes more about management than remedy.

older children feel this type of anxiety.

Societal pressure and environmental factors

“This knowledge will help to inform the

can cause adults to feel as though their stutter

development of prevention and early intervention

is completely debilitating, leaving them with an

speech and psychological programs. Ultimately, I

increased chance of developing an anxiety disorder.

hope it will contribute to achieving better outcomes

Kylie Smith, a speech pathologist and second year

for children who stutter.”

PhD student in the Hearing, Language and Literacy

Kylie hopes that her work at Murdoch Childrens

research group is currently using her PhD research

will give future insight into the long term effects

to find an early intervention method for determining

of anxiety in children, as well as investigating

at what age an individual’s stutter has the potential

“interventions that use technology and the

to cause anxiety.

internet to treat anxiety in stuttering with children.”

“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.”

40 MURDOCH CHILDRENS Annual Report 2014

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.

Nicholas Ryan

Student profile Nicholas Ryan

N

Nicholas is also working on the TakeCare

investigate the impact of traumatic injury (TBI)

project, a longitudinal prospective study that

on the developing brain and identify children and

aims to understand the factors affecting

adolescents at risk of developing persisting social

neurodevelopmental impairment, as well as factors

and behavioural impairment as a result of their injury.

affecting recovery from a concussion head injury.

“Research tells us that certain stages throughout

“The study findings will ultimately inform guidelines

childhood and adolescence represent critical

for children returning to sport, as well as assist

periods of brain development,” says the PhD and

to identify ‘at risk’ children who may benefit from

Clinical Masters student.

ongoing monitoring and intervention after their

icholas Ryan is using neuroimaging to

“As clinicians and researchers, we are best placed

initial presentation to the emergency department.”

to translate this knowledge into individually tailored

Preliminary findings from Nicholas’ PhD, published

assessments, treatments and interventions,

in the journal Human Brain Mapping, suggest that

which aim to improve outcomes for children and

high-resolution neuroimaging of children with TBI

adolescents with neurodevelopmental impairment.”

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.

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

2014 Annual Report MURDOCH CHILDRENS 41

Step-a-thon for kids 2014

Fundraising summary

F

17,429 Participants

or the second Step-a-thon for Kids, held September 2014,

32,646 Donations

kids from all across the country put on their colourful slap band

$870,000 Raised for life saving child health research

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.

42 MURDOCH CHILDRENS Annual Report 2014

39% Increase in overall fundraising

200 + Media stories

50% + Of Australian primary schools were represented

Step-a-thon star

C

allie 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-athon 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.

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

2014 Annual Report MURDOCH CHILDRENS 43

Dame Elisabeth Murdoch Rose Mother’s Day Campaign

T

he 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.

44 MURDOCH CHILDRENS Annual Report 2014

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

1

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5

6

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2.

3.

4.

5.

6.

7.

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Marianne Kirk, Professor the Hon. Marie Bashir, Prof Kathryn North, Sarah Murdoch and Brian Kirk Paula Fox, Prof Kathryn North and Roslyn Packer Natalie Barr and Edwina Bartholomew from Sunrise The late Dame Elisabeth pictured with children on her beloved Cruden Farm Sarah Murdoch and Paula Fox Guests at a garden party featured in the May 2014 edition of the Australian Women’s Weekly Appeal launch host Lisa Wilkinson from the Today Show 2014 Annual Report MURDOCH CHILDRENS 45

Honouring Ryan through support for a cure

I

Ivan Macciocca from the Clinical Genetics research

inaugural Ryan Donald Ball at to celebrate the life of

group at Murdoch Childrens believes that genetic

the late Ryan Donald.

testing can play a key role in providing some

n October 2014 over 500 people attended the

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.

46 MURDOCH CHILDRENS Annual Report 2014

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.

2014 Annual Report MURDOCH CHILDRENS 47

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

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

Tomorrow’s cures need your donations today 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.

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Murdoch Childrens Research Institute The 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