Gene genius’s life-saving work

Medical research is complex, intriguing, demanding. It can lead to a maze of possibilities and probabilities but rarely has quick wins.

One of New Zealand’s leading researchers, worldrenowned Professor Kathryn Stowell, has spent more than 24 years researching malignant hyperthermia (MH) and admits there is still much she doesn’t know. MH is a reaction to New Zealand’s most commonly used inhalational anaesthesia and can cause death if not immediately remedied. The rare genetic disorder triggers abnormal muscular rigidity, heightened temperatures and unstable heart rhythms, making even simple surgeries under general anaesthetic potentially lethal. If the patient has MH, they urgently need dantrolene, an “antidote” stored in surgical theatres throughout the country. Stowell is researching which genes trigger MH, so susceptible patients can be DNA tested and given an alternative safe anaesthetic.

However, only a minute number of the genes potentially involved have been identified. “We want to be able to eliminate the muscle biopsy in the patient’s thigh because a huge chunk of muscle is taken out. Doing DNA testing is much better for the patient,” the Manawatu-based biochemistry professor says. “In one single gene there are known to be more than 300 variants, and we’ve only characterised 42. If you have one of those 42, we DNA test to see if you carry MH, but there are around 20,000 different genes to investigate. That takes time and money. “That we can diagnose based on a DNA test – and know that in itself saves lives – is what keeps me going. Otherwise the sheer scale of the work and the continual search for funding would be soul-destroying.” The inherited affliction affects families throughout New Zealand and there is a very high incidence of MH susceptibility in the lower North Island (1:200 anaesthetics at Palmerston North Hospital compared to 1:50,000 worldwide).

This is due to a Scottish whaler who married into the Ngāti Raukawa tribe in the 1840s; many of his descendants now reside in the Manawatu/Horowhenua region. For many who do not know their family history – including those who have been adopted – it could be a ticking time bomb. “We have identified about 55 unrelated families in New Zealand affected by one of our 27 identified genetic variants.

“That we can diagnose based on a DNA test – and know that in itself saves lives – is what keeps me going”

There are another 20 families where we know they have MH susceptibility but we do not know what the gene is.” Stowell was named an Officer of the New Zealand Order of Merit in 2015 for her services to biomedical science, and her work is known in every MH research centre in the world. But these accolades can’t secure the investment needed to fast-track her research. In fact, Stowell says the hardest part of her work is finding funding. A $10,000 grant from the Palmerston North Medical Research Foundation in 1994 set her on a path to discover MH variants and the foundation continues to support MH research. However, despite having made such a pivotal discovery, Stowell finds her funding is “hand-to-mouth”, as it is for many researchers in New Zealand. “There simply isn’t enough money to support every research project in New Zealand,” she says. “So I do have to put research on hold at times. The last decent-sized grant I had was in 2004. It costs up to $20,000 a year to support a graduate student, and that is only their research costs. That alone would be invaluable to this work.”

Photo credit: Jane Ussher

 

There are eight medical research foundations in New Zealand, collectively investing millions in the wide genre. To find out more about Stowell’s research and other medical research foundation-funded projects, go to: medicalresearchforlife.org.nz

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