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Headlines 17 Zealand is also a wonderful country to do scientific research – there are lots of positives. We work closely with hospitals here and it’s an honour to have the opportunity to work alongside clinicians. After working with legends like Distinguished Professor Sir Richard Faull and Professor Russell Snell early in my career, it was deeply ingrained that giving back to your community should be a big part of your research. This thinking was a part of why I set up Minds for Minds. Why did you change your research focus to autism? Autism is a very complex health challenge and I was drawn to that. In Boston, a colleague, Mike Talkowski, was making some cool discoveries around the genetics contributing to autism, using some new technologies. I became quite motivated to come back to try this approach in New Zealand, to improve diagnosis. Also, when I was growing up my dad taught kids with disabilities (including autistic kids with high support needs). We got to know a lot of the families and I watched them grow up. Because of that, I think researching developmental conditions appealed to me on a subconscious level. What happened during your early days back home? I began setting up a genetic sequencing research group on neurodevelopmental conditions at the University of Auckland in collaboration with Professor Russell Snell, Associate Professor Klaus Lehnert, Dr Juliet Taylor and Dr Rosamund Hill. The first priority was to gain ethical approval. We went through a very rigorous ethical approval process. Being given access to a patient’s genetic data is a privilege, and needs to be analysed and looked after carefully. We also developed protocols alongside clinical geneticists trained in delivering genetic information to communicate results with families. The next step was to recruit families to take part in our research. We had very good clinicians recommend individuals suited to our study. Our pilot study had ten families with children with a profound neurological disorder. They had all been in the clinical system for a while, hadn’t received a definitive diagnosis, and long term health outcomes were unclear. We sequenced each patient’s DNA, looked at all the genes that might be involved with their condition and identified changes that might be the underlying cause. I like using an analogy of the genome that it’s like having a complete set of encyclopaedias. The sequencing allowed us to find changes not only in the right chapter but the specific letter, in the specific word, on a specific page. Back then it was quite new technology. Today it is used fairly regularly in diagnoses. Looking back it was extremely successful. We pinpointed a genetic diagnosis for all ten children. These were kids with really profound conditions. Just having an answer was hugely appreciated by these families. For some, it brought a great sense of relief to know the cause of their child’s condition. How did Minds for Minds evolve? The initial study with ten families grew into Minds for Minds. It is the first genetic research programme for autism in New Zealand. We recruited more families, expanded our research, and built up a community. We have sequenced not only autism but other neurological conditions as well. The goal ultimately is to assist in improved diagnosis and improved clinical and educational outcomes for autistic individuals and their families. We did not expect how huge the uptake would be from the community; it highlights the demand from families for this kind of information. I’ve basically spent the past ten years trying to keep up. Today we have sequenced more than 350 individuals with autism and for our wider neurodevelopmental research, more than 700. It’s a big number to keep track of, but as always these big projects are only possible with great collaborators. It is not something I do on my own. What is a significant change you have noticed in the last ten years? Absolutely the cost of sequencing. In the early 2000s it cost over $1m to sequence a human genome, whereas today it’s about $1500. This rapid cost reduction means the technology has become widely used, which means earlier diagnoses and better levels of care. It also helps identify new genes that might cause a condition. In the case of rare disorders, it means families can connect with others with the same conditions worldwide, and it assists children in getting funding and support where they need it. Anything else you’d like to add? This work is only possible due to hard working clinicians, excellent community organisations and an incredible team on the inside that makes our work possible. Most importantly, I’m extremely grateful to all the families who have participated. Research takes a while, and they have been very patient. I am also incredibly grateful to the Neurological Foundation and our other funders for helping us find answers for so many families. Read more about Minds for Minds' mission to unlock autism together a t www.mindsforminds.org.nz Dr Jessie Jacobsen, second from right, with the Minds for Minds team.