Jeans for Genes Day is on August 5

Staff in the Lower Mid North Coast region will be getting involved by wearing jeans and raising funds for research that directly impacts our patients.

The money raised goes towards the Children's Medical Research Institute (CMRI), which does significant genetic research into childhood health conditions.

"We work closely with Professor Robyn Jamieson who is funded by the CMRI," genetic counsellor at Forster Genetics, Bruce Hopper said.

Professor Jamieson is coordinating a study into gene therapy for people with Retinitis Pigmentosia and also Stargarts disease - both are conditions where eyesight is significantly impacted.

"I have been seeing a number of families locally who are undergoing gene testing for participation into this research trial," Bruce said.

"Only those with a specific genetic variant are eligible at present. If this phase of the trial is successful then the scope of genetic variants will increase."

Bruce said it's great to be able to offer patients living in the Great Lakes region access international trials like this.

Jeans for Genes badges will be available at the receptions of Manning Base Hospital, and the local Community Health, as well as specific stores in the Manning-Great Lakes.

Health staff at Manning Base Hospital and the Community Health sites will be wearing jeans on Friday, August 5 and donating to Jeans for Genes day.

More information and stories of families who have benefited from the funds raised in previous years, as well as online donations can be found at www.jeansforgenes.org.au.

Make the incurable, curable this Jeans for Genes Day

As a naturally gifted and determined young tennis star, Arato dreamt of one day becoming a professional player - until he started missing shots he had once found easy.

His coach told Arato's father, Tim, that something odd was happening, which he could not explain.

"Immediately upon explaining it to me, I had a feeling what the problem was,'' Tim said.

Arato, aged 10, is one of the faces of the 2022 Jeans for Genes campaign which raises funds for the vital work being done in the labs at the Children's Medical Research Institute. Medical research is moving faster than ever, but investment is much slower. The 1 in 20 children facing a birth defect or genetic disease live in hope that one day the incurable can become curable.

Only 18 months ago, Arato was diagnosed with genetic blindness. Tim recognised the symptoms because he also lives with the same condition. Stargardt's Disease impacts central vision and often starts in childhood with black spots in the centre of the child's vision and sensitivity to light.

"It was 25 years ago when I was in full training as a triathlete myself,'' Tim said. "My training partners could see that I was hitting objects on the road or tripping over things on the footpath, and so I had a similar problem.

"People often ask me, 'Tim, what can you see?' When I explain to them that I'm not walking around with a white cane all the time, but if you're standing a metre away from me, I can't see your face.''

Arato now plays in Tennis Australia's Low Vision Competition where he is experiencing great success. School is a bit more challenging, because he struggles to recognise the faces of his friends, which requires a lot of adjustment.

Mum, Junko, holds out hope for the research being done in the Eye Genetics Research Unit at Children's Medical Research Institute. Professor Robyn Jamieson was on the team who delivered the first ever gene therapy for a blinding eye condition in Australia and is leading the way in finding new treatments for many forms of genetic blindness.

"We heard about a clinical trial happening for children with Stargardt's Disease aged from 12 to 18, but Arato is only 10, so he's still not eligible, but it's exciting that it's happening. I was so happy to hear about that research.''

Tim said the family are getting behind Jeans for Genes to encourage people to invest in research.

"You know, I can't help but to make the comparison with the COVID vaccinations, how quickly when institutions and government work collaboratively together and fund the research at an appropriate level that how quickly we can develop vaccinations. Stargardt's Disease or macular juvenile dystrophies are extremely complicated, but it can all be linked back to funding.

"We remain hopeful there will be a treatment for Stargardt's and hopefully that treatment will enable Arato's vision to be restored.''

Jeans for Genes Day is on Friday, August 5 this year. If you would like to start your own fundraiser visit JeansforGenes.org.au

If you would like to donate to Arato's Jeans for Genes fundraiser, which supports the work of Professor Robyn Jamieson, please visit this link: https://fundraise.jeansforgenes.org.au/fundraisers/AratosFundraiser/wear-your-jeans

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