Federal grants to advance earlier diagnosis and treatments for childhood conditions

Researcher in lab

Better treatments and diagnostics for childhood pneumonia, heart disease, rare diseases and stroke are the aims of the latest Murdoch Children’s Research Institute-led projects awarded federal funding. 

Five Murdoch Children’s researchers have received National Health and Medical Research Council Ideas Grants, which support innovative and creative research, totalling more than $6 million collectively.

Associate Professor David Godler has secured $1.8 million for his research in collaboration with Victorian Clinical Genetic Services (VCGS) that will assess the benefits of genomic newborn screening in infants signed up to GenV.                                                                                                                                                                 

“There are over 7,000 rare diseases that can take up to four years to diagnose, families consult on average five doctors and receive three misdiagnoses,” he said. This has huge health and economic burden for the children, their families and the health system. Newborn screening using genomic testing offers the chance for these children to receive new therapies when they can benefit from them the most.”

The study will use a new, low-cost epigenomic workflow, developed by Associate Professor Godler’s team, to screen for treatable conditions including Fragile X, Prader Willi Syndrome and Angelman Syndrome. It’s expected to identify about 200 children with rare diseases out of 100,000 tested and define the health and economic outcomes related to these conditions if detected early as part of newborn screening. The findings will also allow for the roll out of an accredited screening program to mirror standard of care newborn screening at VCGS.

Associate Professor Mark Mackay’s 1.2 million project will develop new tools that can predict developmental outcomes in children who have a stroke to help improve recovery and guide targeted interventions.

“Stroke affects about 120 Australian babies every year and almost 50 per cent experience long-term neurodevelopmental problems such as cerebral palsy, language, cognitive and behavioural impairments,” he said. Our study will explore why babies have a stroke and how it will affect their long-term development.”

The research will look at signature blood patterns and brain imaging to uncover risk factors for stroke in babies and predict future motor, communication, cognitive and behavioural health problems.  

“The findings have the potential to inform a personalised approach to improve outcomes for newborns with stroke, who are most at need of early intervention,” Associate Professor Mackay said.

Associate Professor Jonathan Mynard aims to advance technology for paediatric blood pressure monitoring through his $1.1 million awarded trial.

“Non-invasive monitoring of blood pressure is a cornerstone of early life cardiovascular disease prevention and clinical care of congenital heart disease and chronic kidney disease including acute management of paediatric dialysis,” he said.

“Clinical blood pressure monitoring often requires many cuff inflations during the day and night over an extended period, causing significant distress, pain and sleep disturbance, particularly in younger children. Cuffless blood pressure monitoring is an emerging and potentially revolutionary technology but no viable and validated devices exist for this age group.”

Associate Professor Mynard’s team will build on their innovative design to develop a prototype that is suitable for clinical testing and investigate its feasibility and reliability in cardiac and renal wards.

Associate Professor Catherine Satzke’s $1.1 million funded study will aim to improve childhood pneumonia diagnosis and vaccine strategies in low-middle income countries.

“Pneumonia is the leading killer of young children globally with those living in low-middle income countries bearing the heaviest disease burden,” she said. Pleural infection is a severe complication of pneumonia, which is treated by fluid drainage and antibiotics. Traditional methods are usually unable to identify a bacterial cause, hampering best treatment options and leading to inappropriate use of antibiotics.”

Associate Professor Satzke said preventive public health efforts were hampered due to a lack of data on the causes of infection, especially in countries of the Asia-Pacific where the burden from pneumonia was greatest, which delays efforts to deliver life-saving pneumococcal vaccines.

“Our team has developed a low-cost and scalable molecular test to detect the four most common bacterial causes of pleural infection in children,” she said. The study will advance microbiological diagnosis for children with pleural infection, reduce antibiotic use and inform regional and global vaccine strategies.”

Professor David Thorburn’s research was awarded $1.3 million to develop targeted treatments for mitochondrial disease, a group of over 300 disorders that occurs when structures that produce energy for a cell malfunction.

“Mitochondrial disease affects at least one in 5,000 births and can cause a vast array of health concerns including heart failure, seizures, developmental or cognitive disabilities,” he said. But there has been a lack of proven, effective treatments for these potentially fatal diseases.”

Professor Thorburn said his team would use human stem cell models that replicate the diverse mechanisms underlying mitochondrial disease.

“We can convert stem cells into beating heart cells, for example, and then assess which drugs work for which group of mitochondrial disorders in cells that mimic the ones affected in the condition,” he said. These preclinical trials could pave the way for targeted treatments based on the specific genetic diagnosis in each patient.”