Towards targeted treatments for Fanconi Anaemia 

2017 – 2019 Fellowship / 2017 Grant-in-Aid, Towards targeted treatments for Fanconi Anaemia, Associate Professor Wayne Crismani, St Vincents Institute for Medical Research

Fanconi Anaemia is an inherited disorder which can lead to bone marrow failure, acute myeloid leukaemia and cancer. Fanconi Anaemia is a DNA repair disorder caused by the inability for the DNA to repair certain defects. A defect in any one of 22 different proteins may be involved in Fanconi Anaemia. The goal of this study is to identify drugs that can compensate for an absence or defect of one of the 22 Fanconi Anaemia proteins to re-enable functional DNA repair.  

This team (Genome Stability Unit at St Vincent’s Institute) is already the first in the world to isolate and correctly assemble the Fanconi Anaemia proteins in a test tube.

The proposed study intends to leverage this tool to screen a library of >55,000 drug and drug-like compounds for the potential to enable normal DNA repair. This will be a first potential step towards development of new therapeutics to delay progression of Fanconi Anaemia.