Could you share a summary of your research project and what inspired you to pursue it?
My research focuses on understanding the genetic basis of neurodevelopmental conditions, to help improve long-term outcomes for individuals and their whānau. What I love about medical genetics, is the immediate impact a genetic answer can have for a family. This can range from relief after a long diagnostic journey, or in some cases informing life-saving treatment. Having the opportunity to uncover and understand new types of genetic changes and then translate these to the clinic for families is a real privilege, and my driving motivation. Alongside my love of genetics and neuroscience (which has been nurtured by incredible mentors), my father spent most of his career teaching and supporting diverse learners which has had a lasting impact.
How did Whau Foundation support your research?
The Foundation generously supported us with two grants, one in 2012 (for complex neurodevelopmental conditions) and one in 2015 (investigating the genetic overlap in autism and neuropsychiatric conditions in young people). This funding supported the genome-wide sequencing for some of our first families, enabling us to set up a customised sequencing platform from which we have now sequenced over 1,000 individuals.
Were there any unique or surprising findings in your research?
Finding an answer for a family is always a surprise – it could be residing anywhere in the 3 billion base pairs of a genome. It never gets old.
What impact did receiving support from the Foundation have on your career or future research opportunities?
Funding like this is critical, particularly as an early career researcher returning from overseas. It enabled our team to prove that we were not only capable of conducting genome-wide sequencing, but also of finding genetic variants that were causative for rare conditions. It also enabled us to build relationships and collaborations with clinical specialists and the community, facilitating the launch our multi-disciplinary research network, Minds for Minds.
How has this project contributed to the field, or impacted the wider community?
For the community, it’s provided precise genetic answers for some of our participants, including families with complex neurodevelopmental conditions that affect mental health. The impacts are wide ranging and unique to a family, enabling care to be tailored to an individual’s needs. A genetic answer can allow people to plan for their future and can help them qualify for support from other agencies.
In the research environment, it has enabled us to contribute to the growing knowledge of genetic variants that underlie rare neurological conditions, including those that impact mental well-being. For rare conditions, this is essential, as it enables us to connect with other international groups who are studying the same rare condition or gene. Together, this contributes to improved understanding of the functional impact different variants have on brain function and development.
How would you describe the significance of support from Whau Mental Health Research Foundation for researchers in mental health?
Research into mental health is critical – together with clinical specialists and community support, it enables research-informed care. Genetics is unique in that it can provide a signpost to investigate the relevant biology and to personalise care. There is often overlap with neurological conditions and mental health challenges, and this research enabled us to start to look into the genetic basis of this overlap in Aotearoa New Zealand.
Links to articles on this research:
https://pubmed.ncbi.nlm.nih.gov/26587300
https://pubmed.ncbi.nlm.nih.gov/26497564
https://www.sciencedirect.com/science/article/pii/S1750946716301660
https://www.sciencedirect.com/science/article/pii/S1750946716301660
https://pmc.ncbi.nlm.nih.gov/articles/PMC5701311
https://www.tandfonline.com/doi/full/10.1080/03036758.2024.2394128
Links to media coverage:
University of Auckland: https://www.auckland.ac.nz/en/news/2024/09/19/genetic-testing-provides-answers-for-autistic-new-zealanders.html
The Conversation: https://theconversation.com/the-genes-tell-a-story-new-research-offers-much-needed-certainty-for-autistic-new-zealanders-239287
