Cerebral Palsy Research Group

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 changed little 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 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.

Our team was the first to discover that a major number of children with cerebral palsy have a pathogenic variant likely to cause this neurodevelopmental disorder. Currently, at least one third have a genetic cause mostly due to de novo variants rather than being inherited.

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. Some of the causative pathways are common allowing the potential for early antenatal and neonatal interventions.

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  • Lead researcher

    Emeritus Professor Alastair MacLennan

    Emeritus Professor Alastair MacLennan is Head of the Australian Collaborative Cerebral Palsy Research Group at the Robinson Research Institute. He was Head of the Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health at the University of Adelaide from 2006 to 2012. Emeritus Professor MacLennan has worked both as an obstetrician and a gynaecologist in research on fetal growth restriction, prematurity, parturition and cerebral palsy. He has published over 400 scientific publications and 30 educational videos.

  • Research team

    Research team Role
    Emeritus Professor Alastair MacLennan Lead researcher
    Professor Jozef Gecz Co-leader researcher
    Dr Jesia Berry Researcher - data manager
    Dr Mark Corbett Researcher
    Dr Clare van Eyk Researcher
    Kelly Harper Researcher - study coordinator
    Dani Webber Research associate
    Sayaka Kayumi PhD student
    Nandini Govindasamy Sandran PhD student
    Evdoxia Lagonik Honours student
    Jimmy Breen Biostatistician
    Nader Aryamanesh Biostatistician
    Tristan Hardy Affiliated clinician - SA
    Christopher Barnett - Clinical Geneticist Affiliated clinician - SA
    Nicholas Smith - Paediatric Neurologist Affiliated clinician - SA
    Suzanna Thompson - Paediatric Neurologist Affiliated clinician - SA
    James Rice - Paediatric Rehabilitation Specialist Affiliated clinician - SA
    Ray Russo - Paediatric Rehabilitation Specialist Affiliated clinician - SA
    Andrew Tidemann - Paediatric Rehabilitation Specialist Affiliated clinician - SA
    Luis Pérez-Jurado - Clinical Geneticist Physician Affiliated clinician - SA
    Mary-Clare Waugh - Paediatric Rehabilitation Specialist Affiliated clinicians - NSW and QLD
    Kevin Lowe - Paediatric Rehabilitation Specialist Affiliated clinicians - NSW and QLD
    Matthias Axt - Paediatric Rehabilitation Specialist Affiliated clinicians - NSW and QLD
    Brian Martin - Paediatric Rehabilitation Specialist Affiliated clinicians - NSW and QLD
    Lisa Copeland - Paediatric Rehabilitation Specialist Affiliated clinicians - NSW and QLD
    Michael Stening - Paediatric Rehabilitation Specialist Affiliated clinicians - NSW and QLD
  • Partnerships

    Partner Institution/Organisation
    Professor Nadia Badawi and Dr Yana Wilson Cerebral Palsy Alliance, New South Wales 
    Associate Professor Jeffrey Craig Murdoch Children’s Research Institute, Victoria
    Professor Michael 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
  • Related areas of research

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