For individuals suffering from rare diseases and disorders, getting a diagnosis and the most effective treatment can be challenging but geneticist Lyn Griffiths’ pioneering work is helping to change that, for patients across Australia and New Zealand.

For individuals suffering from rare diseases and disorders, getting a diagnosis and the most effective treatment can be challenging but geneticist Lyn Griffiths’ pioneering work is helping to change that, for patients across Australia and New Zealand.A Distinguished Professor at QUT’s Faculty of Health, Griffiths has devoted her career to identifying the genetic markers for a range of rare neurological disorders, including severe familial migraines, hereditary stroke disorders, epilepsies and ataxias.Historically, it’s been difficult for clinicians to differentiate between some of these conditions and, on occasion, patients are misdiagnosed. That’s a problem, if the medication they’re subsequently prescribed hinders rather than helps their condition.“All these disorders can have very similar presentations, but they have different treatments,” Griffiths explains. “Investigating the patient’s genetic background can help clinicians make a differential diagnosis with confidence and target the treatment appropriately.”Seeing the difference that can make in patients’ lives is enormously rewarding, both professionally and personally.“I get a lot of feedback from people who are happy to have greater insight into their conditions – and from clinicians too,” Griffiths says.“There are people who spend ages hunting for a diagnosis for what might be wrong with themselves or someone in their family and when they know what it is, it makes life a lot easier.”While Griffiths has been on the case since the late 1990s, the emergence of next generation sequencing was a game changer. The technology allows researchers to test hundreds of genes concurrently, far more efficiently and economically than was previously possible.It’s helping Griffiths and her research colleagues at QUT’s new Centre for Genomics and Personalised Health to determine the genetic basis behind a rapidly expanding range of disorders and diseases, including concussion, alzheimers, liver and kidney disease, cancer and ageing related disorders, and to develop potential new therapeutics.Established in early 2021, the Centre is one of several priority research centres at the university. Directed by Griffiths, it has a remit to use genomics to improve health and it brings together 34 research groups and 140 scientists from across the institution.“If you’re all working in your own little groups, you tend to focus on your ‘favourite’ disease,” Griffiths comments. “Coming together like this is giving us opportunities to collaborate and identify synergies that we might not otherwise have had. We’re able to share technology and equipment and expertise.”Providing greater opportunities for Queensland’s best and brightest is also a priority.“We’re passionate about nurturing the next generation of scientists, supporting them from the undergraduate level through their honours and PhD studies so they can play a role in genomics and health in Australia,” Griffiths says.Both Griffiths herself and the Centre for Genomics and Personalised Health are Members of Life Sciences Queensland, the peak body that provides pathways for stakeholders to collaborate, build their businesses and develop an internationally competitive life sciences industry in Australia.LSQ Chief Executive Clare Blain says the Centre will be a hub for the state’s pioneering bio-medical research sector.“The work done by Lyn and her team has an enormously positive impact on the lives of their fellow Australians,” Blain says. “At LSQ, we were proud to see these efforts recognised when Lyn was awarded The QIMR Berghofer Women of Influence Award at LSQ’s GENE Awards in 2020.”