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 firstname.lastname@example.org