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Young Gem has never known life with full vision and her parents have one simple hope - that research will ensure that she is able to keep the little sight that she has.

This Jeans for Genes Day, on Friday 2nd August, everyday Australians can help Children’s Medical Research Institute (CMRI) produce outcomes that change lives – just like Gem's.

Parents Dee and Michael tried for many years to start a family, and suffered many miscarriages - so when their eldest daughter Pip was born with hearing loss, they were simply glad to have a baby. When their second daughter Gem was born with genetic-related vision loss, completely unrelated to Pip’s condition, they were equally as quick to adapt.


We had so many losses that we were just happy that our kids were alive and that the conditions they have are, yes definitely challenging, but not insurmountable

Dee said
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As is the case for many genetic conditions, the cause of Gem’s vision loss was not immediately obvious. After much testing it was finally discovered that she has a rare genetic disorder called Peter’s anomaly, which causes thinning and clouding of the cornea. Gem uses a cane for mobility and is learning braille.

What has impressed Gem’s family so much has been seeing how her ophthalmologist has collaborated with the scientists like Professor Robyn Jamieson at CMRI's Eye Genetics Research Unit to finalise her diagnosis and look at options for the future.

“When we go in, and we see the doctor, we're not seeing one doctor, we're seeing a team,” Michael said. “And that team isn't just a medical specialist in a hospital, there aren't barriers like that.


Robyn and her team at CMRI are collaborating directly with the on-the-ground doctors and they're bringing the therapies straight into play. It really leverages the power of their research and bright minds with one of the best health systems in the world.”

Michael said

The family realise that Gem’s vision loss may not be reversible, but they are hopeful that research will halt further deterioration of her eyesight, and are urging the community to invest in this work.

“We live in a world where we always expected this new stuff, bigger phones, cheaper phones, TVs - but in the end, the thing that's important for all of us is our health and our quality of life,” Michael said.

“The importance of giving is that it comes back to you one way or the other. You may not individually have a genetic health condition, like both of our kids do, but a therapy that initially is very focused on one condition, becomes a platform, which builds and suddenly it's treating hundreds of conditions. And we're seeing this happen in front of our eyes. So really, when you give, it certainly helps our kids, but in the end, it gives back to yourself because you’re changing the future.’’

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Jeans for Genes raises money for the vital work being done by the scientists at CMRI to find treatments and cures for diseases including epilepsy, cystic fibrosis, cancer, genetic blindness, and many more of the 7000 genetic diseases that impact Aussie kids.

Sign up now to fundraise your own way. You can Bake it Blue with a cake stall, do some Ks for Kids by walking, running, skipping or any form of exercise you like – or simply wear jeans just like millions of Australians have done for more than 30 years.

Together we can beat children's genetic diseases.

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By donating monthly, you can fund research that will have an even bigger impact on children living with a genetic disease.