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FA Research

FASA is committed to support medical research of treatments and cure of Fanconi Anaemia.

We partner with FA researchers in Australia and overseas and offer financial and practical support whenever possible.

Identification of the genetic causes of Fanconi anaemia

Melbourne, Australia

We are studying the genetic causes of Fanconi anaemia and similar conditions. Knowing which gene variant(s) is causing FA in an individual, or runs in a family, is useful because:

  • It helps to confirm a diagnosis and tailor treatment
  • It can inform future family planning
  • The information can be shared with close family who may wish to get tested
  • Future gene therapy clinical trials, which may offer an alternative to bone marrow transplants, will require individuals to know which FANC gene they have variants in.
  • In order to improve the care of people with FA, doctors and researchers need to know who has FA in Australia and New Zealand.  It is possible that FA is underdiagnosed, but this can only be established when there is a clearer picture of who is currently diagnosed with FA.

To participate or for more information, contact research@fasa.org.au

Clinical study: Preventative screening of oral lesions in Fanconi Anaemia patients in Australia

Melbourne, Australia

The diagnostic accuracy and safety have been demonstrated of a non-invasive brush biopsy of visible oral lesions analysed with cytology analysis in the FA population. This was a large prospective study carried out in Germany by Heinrich Heine University together with the German support group (Fanconi Hilfe).

Based on these findings that oral cancer can be detected earlier than the current standard of care, the special “Add-on Screening for oral cancer screening in patients with Fanconi anemia using brush biopsy” was developed and is being trialed in Australia and New Zealand.

If you would like your doctor to start using this add-on screening, please contact research@fasa.org.au

DNA repair & recombination

Melbourne, Australia

Our vision is to translate basic knowledge of DNA repair pathways to treatments for cancer, bone marrow failure syndromes, and infertility.

FANCM (Fanconi anemia complementation (FANC) group M) is a protein that can remodel a range of unique DNA structures, particularly structures that occur during DNA replication and repair. Similarly, FANCM is important to keep a number of serious diseases at bay. One of our many interests with this protein is how and why it is required for normal fertility and meiosis, et al.

https://www.svi.edu.au/research_themes/dna_repair_recombination: DNA repair & recombination

The role of FANCM, a gene mutated in Fanconi Anaemia

Melbourne, Australia

Fanconi anaemia is an inherited disorder with greatly elevated risk of leukaemia and cancers. A causal gene called FANCM is a ‘tumour suppressor’. Our work is uncovering its tumour suppressor function: a complex function in repair of damage to our DNA. This study aims to understand how this protects us from cancer, and may influence some forms of cancer treatment.

https://www.svi.edu.au/research_themes/genome_stability: The role of FANCM, a gene mutated in Fanconi Anaemia
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Fanconi Anaemia Support Australasia Inc, is a registered Health Promotion Charity and a deductible gift recipient (DGR1) in Australia