Ashley Marsh, PhD Student

Murdoch Childrens Research Institute


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Brief description of your research (i.e. what disease are you hoping to treat/cure?)

The aim of my PhD research is to determine the genetic control of corpus callosum development. The corpus callosum is the largest nerve fibre bundle in the human brain and functions by coordinating the transfer and integration of information between the two cerebral hemispheres. To achieve this, we study families with inherited agenesis of the corpus callosum (ACC). ACC is one of the most common congenital brain malformations, with an estimated prevalence of 1:4000 in newborns and 3-5% in children with developmental disabilities. Despite its prevalence and heritability, most cases have no identified genetic cause. The project involves close collaboration with clinicians and geneticists within the Royal Children’s Hospital. Families and cohorts for this project are sourced from local, national and international collaborators and then analysed using next generation technologies to identify novel genes underlying ACC. Subsequent studies investigate the pathogenesis of the disorder utilizing cell and animal models as well as advanced neuroimaging techniques. The results from this project will be rapidly translated and of significant clinical benefit to the affected individuals and their families. They will also improve our understanding of several other congenital brain conditions as well as other, more common neurological disorders such as intellectual disability and autism spectrum disorder.

Where are you hoping your research will take you?

My overarching career goal is to use my skills in molecular and cellular neuroscience to discover the genetic cause of neurological disorders and elucidate the underlying mechanisms leading to disease. This research would be conducted in close collaboration with clinical scientists involved in the care and treatment of affected individuals. This fundamental, multi-disciplinary research into the causes and consequences of inherited brain disorders will foster new discoveries, contribute towards the developmental of effective interventions and produce new tools that will aid clinicians and families in caring for people with disorders of the brain and mind. More specifically, I want to leverage the study of rare, monogenetic disorders as a pathway into understanding common, complex neurological disorders. I am particularly interested in identifying the cause of neurological disorders resulting from errors in neuron migration and axon guidance. These fundamental yet still poorly understood processes are critical for normal brain development and the maintenance of synaptic connections throughout life. Disruption to these processes are frequently implicated in neurodevelopmental and neurodegenerative disorders, both Mendelian and common, complex neurological disorders.

What do you need, as a female scientist, to keep doing your research?

I believe female scientists need visible, senior role models, professional mentoring and flexible but stable funding opportunities to keep doing their research. Having female leaders helps younger women envision a career in STEM. Female scientists also need professional mentors, either male or female, to gain wisdom, knowledge and experience as well as a professional support network to assist them throughout their STEM career. Flexible but stable funding is critical, especially for early and middle career researchers with families. Re-entry fellowships, part-time fellowships and other supportive schemes need to be more widely implemented by major funding bodies to support women in STEM.

Do you have a role model who has inspired you? If so, tell us about them and how they have influenced your career.

My supervisors Paul Lockhart and Richard Leventer have been my role models throughout my PhD candidature. Paul is Co-Director of the Bruce Lefroy Centre for Genetic Health Research and an exceptional research scientist. His consistent support and belief in me has contributed significantly towards me finding my feet and confidence as an independent scientist. Richard is an outstanding paediatric neurologist. His work as Director of the Brain Malformation Program and Clinic at the Royal Children’s Hospital is inspiring and a reminder that behind every DNA sample we study is an affected child and their family. Richard’s dedication and passion is a major driving force behind my research.

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