Ataxia research


The major focus of Professor Lavin’s research lab is on the response to DNA damage. The lab investigates the integrity of the genome and the risks associated with different diseases. Their research has focused on rare genetic disorders which are characterized by neurodegeneration and cancer predisposition. 

A major emphasis has been on ataxia-telangiectasia (A-T) (also called Louis-Bar syndrome), a rare genetic disease passed down from generation to generation. This disease is characterised by defects with cell growth and division (cell cycle checkpoint defects), extreme cell sensitivity to radiation (radio-sensitivity), compromised or absent immune system (immunodeficiency), loss of the nervous system (neurodegeneration) and cancer susceptibility. 
A number of different projects are currently being investigated in association with the National A-T Clinic, Lady Cilento Children’s Hospital and The Wesley Hospital. 

These include the activation mechanisms of ataxia-telangiectasia-mutated (ATM) by oxidative stress; identification of ATM underlying substances both in the nucleus and in the cytoplasm; the role of ATM in protecting against lung disease; and how ATM protects against neurodegeneration. 

Professor Lavin’s group has also investigated other neurological disorders including ataxia oculomotor apraxia type 2 (AOA2) which overlaps with A-T. Senataxin, the protein defective in AOA2, has also been shown to play a key role in cell cycle control, and also in protecting the genome.   

A second major focus of the lab, in collaboration with Professor RA Gardiner, is the process of identifying biomarkers for the early detection and prognosis of prostate cancer. 

The third major area of research is designed to develop snake-venom derived products for therapeutic and diagnostic use. To overcome problems with conventional blood collection tubes, such as lack of clotting and potential contamination, a new serum tube has been developed for analyte determination. A snake prothrombin activator, OsPA, has been added to these tubes to enhance clotting. More recently, a new form of the prothrombin activator has been developed to replace native prothrombin activator. Other projects are also in the pipeline in collaboration with industry.  


  • To investigate the role of ATM protein in protecting against neurodegeneration (APP1077989) 2015-2018.
  • Research Fellowship (APP1020028) Improving the health of children with A-T. 2012-2016.
  • Research Fellowship (APP1117655) Improving the health of children with A-T. 2017.

Other funding

  • ATM protects lung epithelial cells against oxidative damage: Implications for pulmonary disease. BrAshA-T Foundation, Australia (RM2016001474). 2016-2017.
  • Investigation of role of oxidative stress in pulmonary disease in ataxia-telangiectasia. The A-T Children’s Project, USA (RM2016000563). 2016-2018.
  • RAPClot: Transforming the blood collection tube market. Q-Sera Pty Ltd. 2012-2017.