Identification of the genetic causes of Fanconi anaemia
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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: To participate or for more information, contact research@fasa.org.au
Clinical study: Preventative screening of oral lesions in Fanconi Anaemia patients in Australia
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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 […]
DNA repair & recombination
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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 […]
The role of FANCM, a gene mutated in Fanconi Anaemia
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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 […]