Identification of the genetic causes of Fanconi anaemia
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
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
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
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 […]
