Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology
Cerebral Palsy (CP) is a movement disorder traditionally viewed as resulting from damage to the developing brain, often occurring at around birth.
A decade of breakthrough research by Professor Alastair MacLennan and Professor Jozef Gecz has resulted in the paradigm shifting discovery that CP is a heterogeneous neurodevelopmental condition with considerable genetic aetiology: that is about 1 in 3 CP cases are genetic. 'Birth asphyxia,' often considered as the cause of CP, can be one of the clinical presentations of a genetically compromised fetus or newborn. Their research has delved into the identification of the major genetic drivers underpinnings CP, and is now also exploring the role of genetic risk factors and their interactions with environmental triggers.
The Australian Collaborative Cerebral Palsy Research Group (ACCPRG) was founded by the esteemed Emeritus Professor Alastair MacLennan and dedicated to debunk the misunderstanding of cerebral palsy as a condition due to primarily brain injury. Now headed by Dr Clare van Eyk and Professor Jozef Gecz, the ACCPRG is actively leveraging their internationally unique resources of the largest Cerebral Palsy Biobank and embarking on cutting-edge genetic research to further advance our understanding of the biology and treatment opportunities for this, often misunderstood, complex condition. The ultimate aim is for individuals and families living with CP to be provided with a genetic diagnosis to inform their health pathways including access to precision medicine.
This story is published as part of the "15th Anniversary Celebration" series of the Robinson Research Institute. Highlighting the achievements and life-changing breakthroughs of our research teams.