Cerebral Palsy research group

About Cerebral Palsy research group

Our research investigates the causes and mechanisms of cerebral palsy (CP). We primarily focus on genetic causes of cerebral palsy – including monogenic, oligogenic and polygenic – as well as the interactions of these genetic factors with environmental factors.

Through applying genomics and multi-omics (including transcriptomics, epigenomics, proteomics), along with cell and animal models, we aim to uncover the functional impact of genetic variants and the underlying molecular mechanisms.

Gene discovery in cerebral palsy and related neurodevelopmental disorders

Applying genomics and multi-omics approaches to genetically diagnose cerebral palsy

Modelling mechanisms in cerebral palsy using animal and cellular models

Delineating the monogenic and polygenic landscape of cerebral palsies

Explore Cerebral Palsy research group

Research impact 1
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Current projects 3

Our discoveries highlight the importance of considering genetic causes in cerebral palsy diagnosis and the benefits this brings. Our goal is to enable earlier and more accurate diagnosis, with genomic testing to become a standard in the field.

We have pioneered genomic investigations into the causes of cerebral palsy internationally. Utilising our internationally unique Australian Cerebral Palsy Biobank, we have demonstrated an underlying genetic cause for at least 1 in 4 individuals with cerebral palsy. This work has debunked the assumption that cerebral palsy is generally due to trauma or lack of oxygen at birth. Rather, poor condition of a baby at birth frequently reflects longstanding pathology, often originating from conception. This research is driving changes in diagnostic practice for cerebral palsy in Australia and internationally.
We are driving international efforts to curate cerebral palsy genes to enable genetic testing for people with CP. Find more information here:
- PanelApp Australia CP gene panel
- Cerebral Palsy Gene Curation Expert Panel - ClinGen | Clinical Genome Resource

Dr Clare van Eyk

Co-lead Cerebral Palsy research group

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Professor Jozef Gecz

Co-lead Cerebral Palsy research group

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Cerebral palsy (CP) is the most common motor disability in children, with prevalence of 1/700 in Australia and major economic and quality of life impacts. It is a heterogeneous disorder, diagnosed based on clinical criteria, not pathology or aetiology. Despite this, current care pathways are homogeneous. Perinatal asphyxia, once believed to be a leading cause of CP, has been shown to be responsible for <10% of cases. In contrast, monogenic causes are responsible for >25%, with >50% of these children likely to benefit from personalised medicine. In this project, we are systematically assessing genomic causes of CP in a clinically well-characterised Australian cohort with the aim of developing knowledge and tools for routine clinical diagnosis and to inform personalised care pathways for children with CP.

Funded by Medical Research Future Fund Genomic Health Futures Mission Grant to Prof Jozef Gecz and Dr Clare van Eyk.

In this project, we are inferring polygenic risk for CP using data from large studies investigating common genetic changes contributing to the risk of known CP risk factors or comorbidities, including premature birth, low birth weight, epilepsy, autism spectrum disorder and cognitive ability.

Funded by Cerebral Palsy Alliance Research Foundation grant to Dr Mark Corbett and Prof Jozef Gecz

Despite the broad implementation of massively parallel sequencing, >50% of rare disease patients remain without a diagnosis after clinical and research testing. This project applies a coordinated multi-institutional, multi-disciplinary approach to rare disease diagnosis, targeting those which remain unresolved due to biological (phenotypic variability, tissue-specific mosaicism and genetic modifiers), analytical (interpretation of variants) or technical (incomplete genomic analysis) factors. Taking advantage of improved bioinformatic pipelines, along with emerging technologies such as long-read genome and transcriptome sequencing and optical genomic mapping, this project aims to end the diagnostic odyssey for patients and their families. Novel mechanisms or genetic loci will be further investigated for pathogenicity utilising a range of functional genomic approaches.

Funded by Medical Research Future Fund Early and Mid-career Researcher Grant to Dr Clare van Eyk

Further information

Most people with CP (80-86%) have neuroimaging abnormalities, with lesional changes of the white and/or grey matter being the most common. By systematically sequencing the Australian CP Biobank Cohort (~600 children with CP), our work has shown that ~1/4 have a monogenic cause, however the group with lesional changes have the lowest monogenic diagnostic yield (~1/5). Our understanding of the etiology of lesional injuries assumes a largely environmental contribution, however many of the well-known risk factors in this group (e.g. IUGR, premature birth) have themselves been shown to be associated with underlying genetic risk, and many genetic causes of CP present with lesional changes. This project specifically targets the molecular mechanisms driving these lesional changes as the most frequent cause of CP.

Funded by NHMRC Ideas Grant to Dr Clare van Eyk

Contact the Cerebral Palsy Research Group

Location
Cerebral Palsy Research Group
Robinson Research Institute, Adelaide University
Adelaide Health and Medical Sciences Building, 4 North Terrace, Adelaide SA 5000