There are over 600 neurological conditions affecting children in Australia. Neurological disorders are the leading cause of disability and the second leading cause of death worldwide. The healthcare journey can often be challenging and isolating, and has a profound impact on health, psychosocial and economic wellbeing for the child and wider family.
The UNSW child neurology research group utilize innovative scientific technologies alongside clinical learnings and education to improve health outcomes for children affected by neurological disorders, so that they and their families can live happy and fulfilling lives.
Paediatric Neurology is a multidisciplinary research group consisting of clinicians and researchers from the Department of Neurology at the Sydney Children’s Hospital Network and the School of Clinical Medicine UNSW Sydney. Our research is driven by clinical challenges faced by healthcare practitioners, parents and children with neurological disorders.
Our goals
Our program currently aims to utilise learnings from Spinal Muscular Atrophy (SMA) to progress clinical trial and treatment approaches for rare genetic neurological disorders, increase collaborative networks and build workforce capacity. This will broaden the clinical translation of new therapeutics so that Australia is at the forefront of realising the benefits of precision medicine.
Our strategy involves connecting clinicians and researchers across disciplines as well as integrating health implementation and translation approaches for:
- Comprehensive patient phenotyping, documenting the impact of neurological disorders on children and their families, neurophysiological studies, and biomarker discovery studies.
- New treatments, impacts and effects in clinical practice.
- New approaches for newborn screening.
Research strengths
We are a team of clinician and scientist researchers, focused on helping children benefit as soon as possible from developments in therapeutics for rare and complex diseases in childhood (neuromuscular, neurodegenerative and neurodevelopmental). We have expertise in clinical phenotyping, conduct of clinical trials and applying research to facilitate improvements in health practice and outcomes for patients, their families and the community.
Our academic projects include:
- Implementation of newborn screening (NBS) for spinal muscular atrophy (SMA)
- Cost effectiveness of NBS and long-term health outcomes of SMA in Australia
- Utilising high-throughput molecular technologies to understand disease mechanisms and identify predictive, diagnostic and pharmacodynamic biomarkers in SMA.
- Developing neurophysiological biomarkers to understand treatment response to disease modifying treatments in SMA
- Developing psychoeducational tools to improve information provision, understanding and aid decision making for healthcare providers and consumers of new and emerging health technologies
- Dementia-CONNECT: Connecting the dots in Childhood Dementia disorders
- Clinical Trials: Our team members are responsible for the conduct of several clinical trials in the department of neurology at Sydney Children’s Hospital, Randwick.
Our results
- Translation of three new precision therapies for spinal muscular atrophy in clinical practice
- Optimising diagnosis and outcomes for spinal muscular atrophy with newborn screening
- Dynamic clinical trial portfolio for rare neurological disorders in children
- Comprehensive phenotyping, biomarker and discovery studies understanding and measuring treatment effects
- Designing best practice standards for screening and treatment of spinal muscular atrophy
- Frameworks and resources to best inform the conduct of precision medicine in child neurology
- Collective clinical approach to advance childhood dementia therapeutic development and care.
