Professor Sandra Cooper, Joint Head of the Kids Neuroscience Centre at the Children’s Hospital at Westmead, has developed a new way of testing traditionally hard-to-identify genetic mistakes called splicing variantsThese variants occur when mutations in the non-coding region of the DNA interrupt splicing – a crucial step in the transformation of DNA into the proteins that make us up.

Through her work at the Kids Neuroscience Centre, Professor Cooper found that traditional genetic testing was only able to provide an answer for a fraction of the children and families who presented to her with suspected genetic disorders.  In an effort to learn more, she developed a new test that uses available biospecimens like blood, urine and skin to test for the presence of splicing variants.

“We initially started out with 220 patients with genetic neuromuscular disorders, and traditional genetic testing was only able to provide answers for 40% of them,” said Professor Cooper. “When we looked for splicing variants in 50 of our undiagnosed families, we found genetic answers for 90% of the families we tested.”

With the support of a Sydney Health Partners Rapid Applied Research Translation grant, Professor Cooper’s lab has scaled up its program and is aiming to diagnose 100 families with a range of genetic disorders by the end of the year.

Professor Cooper says the importance of providing a specific diagnosis “cannot be overstated,” because it allows precision treatments for patients and can assist families through IVF and family planning decisions.

The team helped two siblings with a rare neuromuscular disorder by pinpointing the exact genetic cause of their disease, allowing them to undergo the appropriate targeted treatment– in this case, Ventolin.  Both patients experienced dramatic improvements in their conditions, allowing them to stand, walk short distances and drive.

Professor Cooper stresses, however, that for many families the most important thing is simply putting a name to their disorder.

“To learn what has caused the disorder in their child, or perhaps what caused the premature death of a baby, and helping parents make informed decisions about what to do next is tremendously valuable,” she said.

“Every now and then a diagnosis leads to a treatment that works, but this doesn’t happen all the time. Most of the time it’s about giving families an answer and helping them make decisions moving forward.”

A third of the diagnoses provided by Professor Cooper’s lab are helping families through the agonising process of family planning and pre-implantation embryonic testing.

“It’s very meaningful for me to be able to give a genetic answer to a family who has had a child who’s died,” says Professor Cooper. “And then when they can go on and have a healthy child – that’s as good as it gets for me.”