We have a few other novel disease genes under study, including a spliceosomal component and a RNA-binding protein – that’s what is so cool about our research, is the breadth of molecular biology we get to investigate (although it also means I am forever playing catchup with the literature on diverse topics!)

Would you like to tell us a little about Genetics Otago?

Genetics Otago is a formally supported Research Centre within the University of Otago.

I am Co-Director, and we support over 300 researchers across all facets of genetics – our breadth makes this group unique.

Our motivation for the Centre is to bring visibility to the amazing genetics researchers we have at Otago and the interesting science insights they are making – through both academic/science routes, but also through a lot of public engagement and outreach. We also want to support these researchers to share skills and ideas, through our special interest group Hubs.

If funding and time were unlimited, what dream idea or project would you like to develop?

How long can the list be?! My ultimate goal is to bridge the research-diagnostic infrastructure divide in genetics in New Zealand. While on a personal level, we are a close-knit community, we can bring the most power and technological developments to medical genetics in New Zealand by working alongside each other, in a supported Alliance. This is happening in other countries, and we are trying a few things to get this going in Aotearoa.

If funding and time were truly unlimited, I would love to be able to explore the genome more. We see from our research the incredible power a mutation can have in altering the developmental fate in a person, but we are essentially limited to genes, and variants in the non-coding genome are generally put in the too-hard basket. There are big international efforts to understand the non-coding genome more, but some of us are not very patient!

Outside your own lab, what research or technological developments in the field are you excited about?

I am really excited about episignatures – bringing together methylation and mutations to help diagnose patients and classify variants (though it is a shame that the algorithms seem to be tied up in patents rather than being made available for the community to help develop).

How important has collaboration been to your research and your career?

We study one-in-a-million type conditions, so generally when we find a mutation in a patient, it is most likely to be the only patient in Aotearoa with this variant. So, by necessity, we have global collaborations to make advances in our work.

Are you attending any big meetings this year that you’re excited about?

I always get excited by the American Society of Human Genetics meeting – there is some very cool genetics research on show!

Can you give us one piece of advice for early career biomedical researchers?

If you want to have a long-term career in research, that keeping your head down concentrating on your research isn’t enough. You need to be visible, and seek out leadership and networking opportunities.

Outside of work, what do you like to do?

I love to spend time in the garden (preferably with a chainsaw rather than just picking weeds), organise DIY projects on our old villa, and spend time with my children.