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She now leads a multi-disciplinary team of researchers who have become New Zealand’s foremost experts on the genetic underpinnings of neurodevelopmental conditions, launching the Minds for Minds research initiative. The new clinic will work directly with individuals and their whānau, providing the opportunity to receive a genetic diagnosis. In the first year, the researchers will work alongside hospital specialists to enrol at least 50 children and their parents into the clinic. At present, genome-wide sequencing to identify the genetic basis of autism is not routinely funded by the New Zealand public health system. “The plan is to build upon the success we've had in the research space, and to reach further into the community to provide world class research-informed diagnosis for individuals in Aotearoa New Zealand,” says Jessie. “We need to improve early and accurate diagnosis, because it helps people have far better long-term outcomes.” Jessie expects that, in five years, with sufficient funding, the new Autism Research Clinic will be able to meet the demand for genetic diagnosis for autism across New Zealand. The new research clinic team will include geneticists Professor Russell Snell and Professor Klaus Lehnert, paediatric neurologist and senior lecturer Dr Hannah Jones, and honorary academic and clinical geneticist Dr Juliet Taylor. Dr Waiora Port (Te Aupouri, Te Rarawa; CBR Māori Advisory Board; & grandmother of an autistic individual), Nicola Sterne and her son Kyle (family members of an autistic individual), and Anne Campbell (Waiora's daughter). ANSWERS FOR LUKE Nicola Sterne’s adult son Luke received a genetic diagnosis through the Minds for Minds initiative five years ago. While it did not change his treatment or improve his condition, it was a relief for his family to know the cause of his disability. “When Luke was born, he was underweight, the placenta was gone, the cord was black, and he was rushed off to NICU (neonatal intensive care),” Nicola remembers. Four days later, Nicola and Luke were discharged with a vague diagnosis of chromosome translocation. “It was a horrific time,” Nicola remembers. “There was no way of knowing how it would manifest in Luke. His bloods were sent to Germany, but they couldn’t find anything wrong.” Luke went on to develop seizures and an intellectual disability. Then, when Luke was 19, Nicola received a phone call from her doctor asking if they would like to participate in genome testing. “I just jumped at that and I thought, wow, you know, maybe we can find out the actual cause of his condition.” The testing confirmed Luke had a genetic change in the DYRK1A gene, which is linked to autism. It also revealed his condition was not inherited, but rather a random first- generation genetic change. Nicola says the diagnosis has answered questions about life expectancy and symptoms and the risk of passing the gene on. “There is a lot of power in knowing something, even if you can’t do anything about it,” she says. “We need to improve early and accurate diagnosis, because it helps people have far better long-term outcomes.” Dr Jessie Jacobsen Headlines 19