Researcher: Dr Lucy Fox (pictured)
Location: Victorian Comprehensive Cancer Centre and Monash University’s Transfusion Research Unit, Melbourne
Research aim: Improving diagnosis to inform strategies for better care and outcomes for aplastic anaemia and bone marrow failure syndromes

 

For the first time in Australia, research by a dedicated PhD scholar is describing, understanding and improving the diagnosis of aplastic anaemia (AA) and bone marrow failure syndromes (BMFS).

More accurate diagnosis of BMFS using genomics evaluation underpins precision treatments that provide a greater chance of cure and to avoid the side-effects and costs of inappropriate therapies.

Many young patients have inherited BMFS, and many patients with inherited BMFS present in adult life. These patients are represented in the Aplastic Anaemia Registry (AAR).

Under the Leukaemia Foundation’s Strategic Ecosystem Research Partnerships and in collaboration with Maddie Riewoldt’s Vision, Dr Lucy Fox received a PhD scholarship of $150,000 (February 2018-February 2021) for research at the Victorian Comprehensive Cancer Centre and Monash University’s Transfusion Research Unit. The Leukaemia Foundation contributed $34,000 to this scholarship.

The aim of the project is to define molecular markers in BMFS, to inform better treatment strategies for survival and quality of life, with clinical outcomes documented by the AAR.

Research focus

• A literature review on the diagnosis of BMFS and the role of genomic testing.
• Laboratory (genomics) diagnostic work on BMFS using clinical data and samples from Victorian (and potentially national) patients.
• Study of circulating tumour DNA analysis in AA and comparison with peripheral blood and bone marrow DNA testing.
• Health economics analysis of different genomics approaches.
• Analysis of data from the AA Registry:
  • Epidemiology of AA in Australia
  • Diagnostics, including cytogenetics
  • Prognosis: analysis of haemoglobin, white cell and platelet counts at presentation and associated with prognosis, infection rates and time to allogeneic transplantation
  • Therapies: number of therapies prior to stem cell transplantation, association between number of therapies and prognosis, identifying patients who should be transplanted earlier, supportive care requirements.
  • Biobanking: identifying patient samples on the AA Registry for further analysis, to provide an understanding of disease mechanisms.