Some individuals have unusual and unexpected responses to therapies, or environmental factors, based on natural genetic differences. While there are precedents it has been difficult to identify the genes involved prior to the advent of routine whole genome sequencing and analysis, which is now well established at the Garvan Institute and which is proving so efficient at identifying affected genes in other contexts.

Bioplatforms Australia, with generous support from the Kinghorn Foundation supported a framework initiative to investigate exceptional responders at the Garvan Institute for Medical Research.

These ‘exceptional responders’ have the potential – through analysis of their genomes – to help us better understand human biology and to uncover new pathways to treat diseases. By analysing the DNA from exceptional responders, researchers hope to identify the genetic and molecular changes that underlie their responses to treatment. Such studies could also reveal biomarkers that could be used to predict responses to the same or similar treatments in other patients.

 In 2019/20

  • 99 exceptional response patients were referred to the Garvan Institute, from
  • 33 clinicians, from
  • 18 clinical trial centres, across
  • 5 States and Territories, with
  • Remarkable cases of disease response from Melanoma, Sarcoma, Prostate and Urothelial cancers.

Whilst initially focused on cancer patients and response the program of work intends to extend to all relevant clinical trials in the years to come, including immunology (eg SLE) and haematology (similar to oncological cases), and potentially rheumatology (eg inflammatory arthritis), renal (eg nephritic syndromes), gastroenterology (eg Crohn’s, UC) and endocrinology (eg T2 diabetes).

Project details

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