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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.�
06 MURDOCH CHILDRENS Annual Report 2014
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
16 MURDOCH CHILDRENS Annual Report 2014
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.
18 MURDOCH CHILDRENS Annual Report 2014
“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
20 MURDOCH CHILDRENS Annual Report 2014
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
2
3
4
5
6
1. 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. 1300 766 439 | www.mcri.edu.au
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