At the Murdoch Children's Research Institute, basic science and ‘translational research’ are performed under the same roof. Clinical and laboratory researchers at Insitute’s Bruce Lefroy Centre (BLC) work side-by-side to translate their research discoveries.
In health and medicine, translational research is typically referred to as science that goes from ‘bench-to-bedside’, but it can also mean research that translates into health policy or clinical practice. Translational research is more applied than basic science, which focuses on fundamentally understanding a specific topic to increase our knowledge.
As researchers in the BLC know, working together goes above and beyond working alone – there is synergy in collaboration!
This is shown by the significant strides made by the BLC researchers working on Friedreich ataxia, a debilitating neurogenetic disease caused by a DNA mutation in a gene called FXN which produces the frataxin protein.
Individuals with Friedreich ataxia have lower levels of frataxin than unaffected individuals. Progressive degeneration of certain neurons in the spinal cord and the brain causes affected individuals to become wheelchair-dependent. Typically Friedreich ataxia begins in childhood and results in uncoordinated movement, known as ataxia, and enlargement of the heart, known as cardiomyopathy. Both get worse over time.
Professor Martin Delatycki, co-director of the BLC, is a clinician researcher who is a global leader in the clinical research and translation of potential treatments and biological markers for Friedreich ataxia. His team performs cutting-edge basic and clinical research in this disease and they engage regularly with individuals affected by Friedreich ataxia and their families through a dedicated Friedreich ataxia clinic and the Friedreich Ataxia Research Association Australasia.
In the last five years, Professor Delatycki’s team has developed international clinical guidelines for Friedreich ataxia, completed a clinical trial for a potential new treatment for Friedreich ataxia, characterised the links between the molecular and clinical features of Friedreich ataxia, and identified a novel biological marker of this disease.
Separately, basic science and translational research are both vital to Australia’s health and economy. Each benefits all Australians and contributes to the broader global society. But together, they can do even more! The advantages of clinician researchers and laboratory-based researchers working together are enormous. Collaborations and networks are fostered and resources are pooled and shared between many. The cross-fertilisation of knowledge not only increases productivity and professional development, but importantly, ideas. It also streamlines the testing and translation of new treatments and the implementation into policies and practice – all of which benefit our patients.
The BLC investigates genetic testing, ethics in clinical genetics and genetic syndromes. Specialised researchers with expertise in diagnostics, clinical research, basic science, translation and patient care all work toward a common goal – to understand, diagnose and treat debilitating neurogenetic diseases which are genetic disorders of the brain and nervous system. There are three research teams within the BLC; Genetic Health Research, Neurogenetic Research and Clinical Genetic Research.
The Bruce Lefroy Centre would like to thank the Lefroy family and their friends for their generous support and donations over the past decade.
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