Finding cures for children's genetic diseases

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Cure Childhood Diseases

Each year, 500 Australian children will lose their lives to a childhood disease.

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Our mission is to discover cures for childhood diseases like cancer, birth defects, epilepsy and genetic diseases. Professor Reddel, Director of CMRI
One young woman who understands the importance of medical research is Diandra, now a healthy 19-year-old who credits CMRI for helping save her life.

Diandra, age 8

Diandra's story 

Hi, my name is Diandra Edmondson. I've suffered with a rare disease my entire life. I was in hospital when other kids were enjoying their holidays. I needed transfusions every few days just to stay alive.  

Last year, I got worse and the transfusions were no longer working, so I was due to have a bone marrow transplant. Bone marrow transplants are one of the great advances of modern medicine, but because of the fault in one of my genes, if the transplant had gone ahead in the standard way, there was a high risk I would have died.

I would never have seen my parents, friends, another birthday or Christmas ever again.

CMRI’s Dr. Tracy Bryan’s research showed that a gene called TPP1 caused my disease. Once this discovery was made, my treatment plan was altered and the transplant was successful. The disease I have is one in a million. That’s crazy. It’s hard to think that you’re one in a million and the thing that makes you unique is the thing that is trying to kill you.

I credit CMRI's technology and the expertise they have in analysing these types of gene mutations as the reason I’m alive. What's more, I know now that they've made this discovery, they can one day come up with a cure. I don't want any other kids to go through what I've been through. We can all help children suffering from disease ... by helping CMRI do what they need to do.


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Children's Medical Research Institute is a Health Promotion Charity endorsed to access the following tax concessions; Tax Concession, GST Concession, FBT Exemption and Income Tax Exemption. Children's Medical Research Institute is endorsed as a Deductable Gift Recipient (DGR) from 1st July 2000. Registered Charity Number: 10331
  • $10

    $10 will help us screen patients with aplastic anaemia for a genetic disease that could affect their treatment.

  • $30

    $30 can help us find cures for childhood diseases, like cancer, which affects hundreds of Australian children every year.

  • $50

    $50 will make a world of difference to our gene therapy program, which is trying to prevent children dying or being permanently disabled from a urea cycle defect.