Earlier this year, several researchers from Kids Research, and our partners at the University of Sydney and UNSW, were awarded National Health and Medical Research Council (NHMRC) funding for their projects, which are focusing on a range of childhood diseases.

The five-year Investigator Grants are helping further research in areas including rare genetic disorders and childhood and adolescent obesity, but also ways to maximise the health and wellbeing of children and their families.

We have spoken to our researchers about how their projects are tracking and how their research will impact the future of paediatric health.

Dr Emma Palmer, Clinical Geneticist at the Sydney Children’s Hospitals Network (SCHN) and Clinical Academic at UNSW

Gene2Care: a comprehensive program of research to revolutionise care for children with rare genetic conditions

“This research program is focused on improving the model of care for children with rare conditions, particularly rare genetic conditions. Firstly, we offer families seeing our genetic services the opportunity of participating in a consented and secure DataHub. That way we can track which patients are being seen, link families to resources and clinical research opportunities and get feedback on how well our genomic model of care is meeting their needs. This also helps us link patients without a genetic diagnosis yet, which is about half of the children we see, with diagnostic and functional research options to put children in the best possible position to get a diagnosis. A diagnosis is needed to open up the door to better support and precision medicine. We are also looking at projects to know how to best give power to a diagnosis and provide families with answers to their questions. Lastly, we’re looking at how we can make our genomic models of care culturally appropriate, accessible and equitable for ALL children accessing our services.

You might hear the term ‘rare disease’ and think “what’s the point?” But collectively rare diseases are more common than diabetes, affecting two million Australians. There are over 7,000 rare diseases which means people often don’t know where to start. This can cause an overwhelming amount of uncertainty and anxiety for patients, their families and their doctors. That is why we need a rethink and ways to connect information and resources about rare diseases at national and global levels. This way we can deliver better healthcare outcomes that are truly person and family-centred."

Just because a patient has an individually rare condition, their healthcare needs are as important as someone with a more common condition, and at the moment they are often falling through the cracks.

Prof Louise Baur, Consultant Paediatrician at The Children’s Hospital at Westmead (CHW) and Professor of Child and Adolescent Health at the University of Sydney

Transforming the prevention and treatment of child and adolescent obesity

“The vision of this project has three parts. The first is to establish scalable and sustainable approaches for preventing obesity in childhood. The second is to develop safe and effective treatments for children and adolescents living with obesity. The third part, which is concurrent, will focus on transforming health systems with models of care that can be integrated practically. So it’s about getting health systems to focus on both the prevention and the treatment of obesity.

"At the moment they’re not doing much of either. It’s a little bit like saying, if you’re thinking about chronic lung disease and lung cancer and asthma, you can’t say we’ll just prevent it. You’ve also got to treat those diseases as well.

"Eight per cent of current school aged children in Australia have obesity and one in four is affected by overweight and obesity by the time of school entry. So it’s really common and challenging. We’re particularly interested in disordered eating and mental health outcomes. We know that obesity is very common and that mental health problems are also very common. We also know that good treatment of obesity in children and adolescents leads to overall improvements in a range of areas including depression, anxiety, body image and blood pressure. But what we’ve learned is that there may also be a subgroup at high risk of an eating disorder. So we want to be able to personalise treatment more. It’s obesity meets eating disorder and we’re bringing together a collaboration of experts to look at this issue.”

Dr Brendan McMullan, Paediatric Infectious Diseases Specialist at Sydney Children’s Hospital, Randwick (SCH) and a Conjoint Senior Lecturer at UNSW

Improving antimicrobial use and reducing harms in children

“It’s about gaining a better understanding of how we’re giving antimicrobials, such as antibiotics, to children and finding the gaps for improvement. This includes better surveillance, which means seeing in what numbers and settings we’re giving antimicrobials to children, assessing prescribing quality and how well it matches up with good practice guidelines. We want to reduce inappropriate use which drives drug resistance in infants, children and adults. In 2014 it was reported that at least 700,000 people die globally each year of drug resistant infections and this figure is likely higher today. So this research is a small way to reduce the pressure of what it is one of the most significant health crises of this century.

"The program also includes implementation studies and tying that to real outcomes like getting children out of hospital faster safely. A pilot project at SCH achieved a 20 per cent increase in antimicrobial appropriateness, which allowed children to leave hospital two days faster on average, without any increased complications or safety concerns.

"Those are real impacts that people can understand. Everyone wants to get out of hospital sooner if they can do so safely.

"This grant will allow us to move this research into hospitals that are not a tertiary children’s hospital in Sydney, because that’s where about 80 per cent of children with these infections are receiving their care. The idea is that this research will generate knowledge that can be scaled up and generalised for children throughout Australia and beyond.”

Prof Claire Wakefield, Behavioural Sciences Unit at the Kids Cancer Centre and Professor at UNSW

Maximising health and wellbeing for children with serious illness in countries with the most, through to the least, resources

“The program focuses on improving the health and wellbeing of families with children living with a serious illness. However, it’s not just thinking about families in Australia with access to the best resources, but also about low income countries and how we can learn from them as well. In Australia more than one million children will have a serious illness during their childhood and over a quarter of those children will also develop a mental health condition. This project is looking at that intersection between physical and mental health and realising we can reduce up to 30 per cent of the difficulties these children face by improving their mental health and lifestyle.

"If you tackle only one thing, for example, just giving medical treatment without thinking of the wellbeing of the child and the family, then you’re not really giving the best possible care to the whole child.

"We’re hoping children in future generations will have a better quality of life while they’re managing their medical illnesses. We want to teach them better resilience and we want families to feel like their voices are being heard within the health care system. But we also want to make a difference in low income countries, where mental health and wellbeing are not traditionally prioritised. There is a main focus on implementation. Rather than just describing the problem in a study and moving on to the next one, we want to establish programs to address the issues and actually make a change for the next family.”

Dr Sanjay Jayasinghe, Research Fellow at National Centre for Immunisation Research and Surveillance (NCIRS) and Senior Lecturer at the University of Sydney

Research generating evidence to optimist pneumococcal disease prevention

“This project relates to pneumococcal disease, which is a bacterial infection that affects people of all ages but can be quite serious in children. It causes 11 per cent of childhood deaths globally. There is already a vaccination program in place to prevent this disease and over time improvements have been made. But there is more work to be done. This grant will help us explore some of the more common but less severe forms of the disease and how other diseases, including the flu and COVID-19, can impact on a person’s susceptibility. We’ll look at the differential burden of the disease in the Indigenous community, compared to other Australians. Also, at how new vaccines could make the vaccination program better.

"In Australia there are about 2,000 cases of invasive pneumococcal disease each year. That is the severe form of the disease which could lead to serious complications and even death. But other forms could see case numbers several times higher than this.

"To put things into perspective, pneumococcal disease accounts for a quarter of the total vaccine preventable disease burden in Australia.

"We want better control of these vaccine preventable diseases. So we will be looking at the epidemiology of the disease, its various forms, how effective current vaccination programs are and also how cost effective these vaccines will be. The data will be key to informing decisions on the future of disease control policy and will be of international interest and relevance.”

Dr Sudarshini Ramanathan, Head of the Translational Neuroimmunology Group at Kids Neuroscience Centre, Senior Lecturer at the University of Sydney and Neurology Staff Specialist at Concord Hospital

Defining pathogenic mechanisms to improve diagnosis and treatment of antibody-associated neurological disorders

“This research program aims to define our understanding of autoantibody-mediated disorders of the central nervous system. These disorders often affect children and young adults, and patients have a lot to lose. They risk a lifetime of disability, including blindness, paralysis, seizures and dementia. Early recognition of these relatively recently identified disorders and accurate diagnosis is critical because treatment with immune therapy can improve outcomes, reverse disability, and effectively allow patients to return to a normal life. We study a host of disorders, including antibody-associated encephalitis and antibody-associated demyelination, in both children and adults. As many of these disorders have only recently been described, our research will work towards defining the clinical and radiological features which enable diagnostic criteria, and develop therapeutic guidelines which will be globally applicable. We are also focused on basic science research which will strengthen our understanding of the underlying immunobiology of these disorders, in order to treat patients in a more targeted and precise way.

"Together with Prof Russell Dale and A/Prof Fabienne Brilot, we lead the Australian and New Zealand MOG study group. With over 150 clinical collaborators from over 45 sites in Australasia, we have developed one of the largest international clinical cohorts of over 500 patients who have myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Our work has enabled us to define these clinical syndromes, expedite diagnosis, and identify the best treatment algorithms for this disorder."

"This Investigator Grant is a game changer and will enable us to continue our work on the ultimate goal of this project, which is to improve outcomes in patients who have reversible neurological disorders."

As you can see, these researchers are paving the way to creating a better quality of life for children living with a range of conditions. Some of these projects have highlighted the overlap between physical and mental health, as they look for ways to improve the overall wellbeing of the child and their families. Despite this grant being five years in duration, these research programs will not end there but will continue on into future developments and breakthroughs, making their mark on paediatric health.