Our vision is to investigate cerebral palsy causation and to better understand the pathways to cerebral palsy, thereby informing and directing future prevention and treatment.
Cerebral palsy (CP) is a common, debilitating neurodevelopmental disorder affecting posture and movement control in approximately one in 400 children. The severity of symptoms ranges from mild problems with muscle coordination to severe spasticity of all four limbs, which greatly impacts on quality of life for those affected and their families.
CP is actually an umbrella diagnosis for a spectrum of diverse disorders with multiple causes, clinical types, patterns of neuropathology and associated developmental pathologies. Its prevalence has not changed during the past 50 years and it costs the Australian health care system and the community billions of dollars per year.
CP is often linked to other neurodevelopmental disorders such as autism, epilepsy and intellectual disability. In these other disorders, causal genetic variations (either inherited or new spontaneous mutations) are common. CP has not previously been comprehensibly investigated for genetic variants and as such, this is the recent focus of the Cerebral Palsy Research Group.
Using our unique cerebral palsy family DNA biobank and clinical database, we are performing new generation exome sequencing on families with CP-affected children to uncover genetic changes in individual patients and to investigate whether these unique changes contributed to cerebral palsy.
Candidate genes then undergo validation in a variety of function studies to ascertain whether they disrupt motor function. Using advanced technologies to examine each individual’s genetic material in detail has recently enabled multiple rare pathogenic variations to be identified by us and others worldwide.
Lead researcher: Emeritus Professor Alastair MacLennan
- Professor Jozef Gecz - Co-Leader Researcher
- Dr Jesia Berry - Data Manager
- Dr Mark Corbett
- Dr Clare van Eyk
- Kelly Harper - Study Coordinator
- Dani Webber - Research Associate
Affiliated clinicians - SA
- Christopher Barnett - Clinical Geneticist
- Nicholas Smith - Paediatric Neurologist
- Suzanna Thompson - Paediatric Neurologist
- James Rice - Paediatric Rehabilitation Specialist
- Ray Russo - Paediatric Rehabilitation Specialist
- Andrew Tidemann - Paediatric Rehabilitation Specialist
- Luis Pérez-Jurado - Clinical Geneticist Physician
Affiliated clinicians - NSW and QLD
- Mary-Clare Waugh - Paediatric Rehabilitation Specialist
- Kevin Lowe - Paediatric Rehabilitation Specialist
- Matthias Axt - Paediatric Rehabilitation Specialist
- Brian Martin - Paediatric Rehabilitation Specialist
- Lisa Copeland - Paediatric Rehabilitation Specialist
- Michael Stening - Paediatric Rehabilitation Specialist
- Professor Nadia Badawi and Dr Yana Wilson - Cerebral Palsy Alliance, New South Wales
- Associate Professor Jeffrey Craig - Murdoch Children’s Research Institute, Victoria
- Professor M Kruer - Phoenix Children’s Hospital and University of Arizona, USA
- Professor Xing Qinghe - Shanghai Medical College, Fudan University, China
- Professor Xiaoyang Wang and Prof Changlian Zhu - University of Gothenburg, Sweden
We offer exciting opportunities for researchers at the honours, masters and PhD levels. Our research degrees are open to students from a broad range of backgrounds, and range from basic sciences to clinical research. If you are interested in human health, consider furthering your research career with us.