Finding cures for children's genetic diseases

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Accurate diagnosis can save lives
   
"I'm amazed and grateful for what medical research has given me and feel positive and hopeful for what it can do for so many others."

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I’m Diandra Edmondson. I am 23. And I am very lucky to be alive today.

I have a condition called aplastic anaemia. It basically means my body doesn’t create enough new blood cells, and without constant transfusions or a bone-marrow transplant, I couldn’t live.

Research at Children’s Medical Research Institute (CMRI) saved my life

I’m alive today because of the research of Professor Tracy Bryan and her team at CMRI. A few years ago, I was due to have a bone marrow transplant. If the transplant had gone ahead in the standard way, there was a high risk that I could have died. Never have seen my parents again…. Never have seen my friends. Never had another birthday.  And never had a chance to become a mum to Alexia.

The CMRI team’s research showed that an error in a gene called TPP1 caused my disease. Based on this discovery, my treatment plan was altered and the transplant was successful. The fact that CMRI had the technology and the expertise to measure the effect of that particular gene mutation, contributed to my survival. 

Accurate diagnosis can save lives

Professor Tracy Bryan and her team were the first to discover that a telomere-related gene, called TPP1, could cause aplastic anaemia, a bone marrow failure disorder. This knowledge led to a successful experimental bone marrow treatment for young Diandra.

Diandra may not have survived without this molecular diagnosis and the experimental treatment she was given.
           
We are tackling bone marrow failure syndromes with a two-pronged strategy: Diagnosis and Therapy.

Our vision is that gene therapy will be used to correct bone marrow failure syndromes in future. Stem cells would be collected from a patients’ own bone marrow, and gene editing technology used to fix the genetic mutation causing their condition. The corrected stem cells would be re-introduced into the patient to restore their bone marrow with healthy cells.

A tremendous benefit of using a patient’s own cells is that it avoids transplant rejection. Diandra and others now surviving bone marrow syndromes rely on a bone marrow transplant, but they are risky, and not everyone survives them. Diandra has been lucky.

This promising work is costly and currently unfunded. Your contribution to our research has the potential to help thousands of children affected by bone marrow failure disorders in Australia and around the world—now and for future generations.

Please help by supporting this life-saving work today.
 
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