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PhD student Chris Hakkaart describes his journey from the biology class of a small river town to the University of Otago’s renowned Centre for Translational Cancer Research, where he unravels the mystery of rare cancers plaguing families in New Zealand and Chile.

Look up any of New Zealand’s great scientists and chances are you will find they were born in one of New Zealand’s small farming towns. Ernest Rutherford (split the atom) – Nelson. Maurice Wilkens (Nobel Prize for helping to discover DNA structure) – Pongaroa. Alan MacDiarmid (Nobel Prize for chemistry) – Masterton. Allan Wilson (revolutionized evolutionary biology) – Ngaruawahia. The list goes on.

Though Chris Hakkaart would never make such comparisons himself, he agrees his upbringing in the South Otago town of Balclutha gave him a great foundation for genetics.

‘Genetics is about problem solving – thinking of new ways of interrogating a question or idea. We are fortunate in New Zealand to be brought up on the ‘No. 8 wire’ mentality. Because of this we punch above our weight in genetics.’

In fact, it was some sharp mental boxing with his seventh form (year 13) biology teacher that developed in Chris a questioning mind so ideally suited to genetics.

‘Everyday my biology teacher would look at me and ask “What do you think?” This was what started me caring about science, wanting to know why things are the way they are.’

This new way of looking at life took Chris into a course of health sciences at the University of Otago, where he began his studies in 2009. Yet he soon found that even anatomy and body systems could not satisfy his curious mind. Instead it was the world of cells and microbiology, and the possibilities of genetics, that fed his desire to interrogate life and solve its mysteries.

‘Otago’s genetics programme is fantastic because it involves so many different aspects and you get access to so many disciplines - you are definitely not pigeon-holed into one area.’

A third year paper, Medical Genetics, sealed his choice to follow a helix-shaped career path, enticing him with the idea of searching for the genetic causes of diseases.

Now in his final year of a PhD in clinical genetics at Otago’s renowned Centre for Translational Cancer Research, Chris agrees it was an exciting time to enter the world of genetics. Genome sequencing has made ‘exponential progress’ in the past decade, he says, from an arduous and expensive manual process to one that churns out huge amounts of data in a few days and for a few thousand dollars.

Chris’s research at Otago has given him plenty of opportunities to use this technology. ‘The expertise we can access at Otago is incredibly good and we also have organisations like New Zealand Genomics Ltd just across from us’.

As the public sees how this technology can be used in practice, perceptions of genetics are also changing. ‘I think we are hitting a generation that is more accepting of genetics,’ Chris suggests. He still hears people throwing around terms like “designer genetics”- clearly a ‘no-go’ area in his view. But he thinks the positive developments are too compelling not to pursue, especially when it comes to detecting and understanding rare diseases.

‘It is a terrible thing for a family to discover their child has a serious genetic disease for which there is no explanation. It would be almost unethical not to help them if we can. But there are grey areas, such as how we should respond to the results of genetic screening.’

Chris’s PhD research on heredity stomach cancer has put him at the heart of these issues. He works in the Centre for Translational Cancer Research, led by Professor Parry Guilford, whose ground-breaking work identified the gene mutation behind an inherited gastric cancer that had mysteriously plagued a Bay of Plenty Māori family. 25 of their family had died from the cancer over a 30-year period.

‘Otago developed a very meaningful collaboration with the family, to understand what was going on and identify its genetic basis. Now we can screen for the responsible gene and they can at least know what their options are.’

Chris is continuing this important work through his search for the genetic mutation behind similarly unexplained cancers amongst Chilean families. Chile, like New Zealand, has a high cancer rate, but does not have its own genetics facilities and so is receiving support from the Centre.

The search is both meaningful and challenging, drawing on many different skills.

‘Genetics involves a lot of statistics and computing, so we search through large databases to identify and compare variants amongst different populations. For example, we might find a variant in cancer patients but find that 10 percent of the wider population also carry it. So we can rule that out as the cause.’

Chris aims to finish his PhD at Otago in 2016 and then head further afield for post-doctorate work in heredity genetics. ‘The demand for geneticists is only increasing as there is so much new data being generated.’ It is also the value of the work which keeps him going. ‘Anything we can do to help families afflicted by these weird and unexplained diseases is worthwhile.’

Genetics’ fast progress over such a short period seems to be placing ever increasing expectations on the shoulders of geneticists. Chris is upbeat when asked if genetics is more than a great hope.

‘I’m incredibly optimistic about the good that can come from all aspects of genetics. The accessibility and cost is so much better now, we can discover and innovate so many cool and fantastic things.’