Watching videos of their daughter’s birthday, David and Nadine Lipworth can’t recognise the girl sitting on her father’s lap, singing happy birthday as she blows out four candles.
After months of painstaking molecular detective work, University of Sydney Professor Sandra Cooper and her RNA for Rare Disease team this month identified the specific mutation in Sasha’s SLC6A1 gene that causes her condition.Clinical genetic testing found a suspicious variant in Sasha’s SLC6A1 gene, which was starving her of proteins that her brain needs.
The mutation isn’t a problem with Sasha’s DNA code itself, but the way that code is copied and spliced into the RNA. “There was a global clinical trial showing that if you give RNAs to people, it doesn’t hurt them,” Cooper says. “We feel this is the next quarter-century of research, and we’re starting it .”As Cooper leads research into identifying possible splice-switching treatments that might correct the RNA instructions for SLC6A1, her colleague Dr Fran Evesson heads a laboratory team studying whether this treatment will have the knock-on effect of restoring the function of the SLC6A1 protein.
Cooper and Evesson are keen to stress they are at the very early stages of their research. Cooper says she has 10-15 years left of her career: “I’m wondering if I can get this done before I retire.”The researchers say that, even though Sasha’s RNA change is a good candidate for splice-switching approaches, it may not work in practice.
“You need pioneers, you need people who will push the envelope,” Fletcher says. “There will never be a profit in developing a therapeutic for one child, but somebody with an ultra-rare disease has just the same rights to treatment as anybody with any other disease.”For the Lipworths, every day that goes by is another day Sasha is missing out on development.
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