A new test for genetic diseases is successfully providing the sought-after answers for families of sick children. RNA diagnostic testing has already achieved a diagnosis for more than 70 families, with hopes it can be implemented in everyday clinical practice.

Current methods using DNA sequencing are only able to diagnose half of the children and families with suspected genetic disorders. Professor Sandra Cooper from Kids Neuroscience Centre (KNC) at Kids Research says the importance of a diagnosis cannot be overstated. She has developed standardised RNA testing procedures to deliver patients with a precise molecular diagnosis.

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Prof Cooper leads SpliceACORD, the Australian Consortium for RNA Diagnostics, with a vision to implement these standardised practices in routine clinical medicine. This research was supported by Sydney Health Partners and Luminesce Alliance and recently published in Genetics in Medicine.