Uveal melanoma: a hidden danger

In 2015, Nicola Laws was diagnosed with melanoma in her eye, known as uveal melanoma, following a routine optometrist eye check.

‘Before the diagnosis came, there was nothing indicating the seriousness of Nicki’s condition,’ recollects her husband Glen Laws.

University lecturer, veterinarian, artist and environmental activist, Nicki was an amazingly bright woman with a vivacious curiosity for all things and boundless energy.

‘She completed her PhD in muscular dystrophy in 3 years, while being a full-time mum to our two young sons’ says Glen.

Upon her diagnosis, it was therefore natural for Nicki to be drawn to research on her condition, which led her to the Oncogenomics Laboratory at QIMR Berghofer.

Under the leadership of Professor Nicholas Hayward, the laboratory is one of the few laboratories in the world looking into uveal melanoma.

‘Although uveal melanoma accounts for only 5% of all melanoma diagnosed, the survival rate is much lower than that of skin melanoma and the cancer progresses to metastatic disease in 50% of patients’, Professor Hayward said.

The Oncogenomics team explores the genetic causes of uveal melanoma. It is recognised that eye and skin colour influence development of the disease, indicating that genes also play an important role.

Together with national and international collaborators, the QIMR Berghofer researchers sequenced the entire genomes of more than 100 patients with uveal melanoma and compared data on DNA mutations with health outcomes. They discovered a common anti-cancer gene, named TP53, was often switched off in uveal melanoma.

‘We hadn’t known a role for the TP53 gene in uveal melanoma before this study, so our findings open up new avenues for potential treatments for this disease,’ Professor Hayward said.

‘Identifying that this anti-cancer gene is turned off in some uveal melanomas improves our understanding of how the tumours develop and may provide a target for new treatments.’

‘Nicki was one of the incredibly generous participants who took part in Professor Hayward’s study.

‘Nicki’s positivity and keenness to get involved despite the hardship this insidious disease and related treatments brought is inspirational,’ Jane Palmer, QIMR Berghofer’s clinical nurse and recruitment coordinator, said.

‘Participation in medical research whilst grappling with a cancer diagnosis and treatment is incredibly difficult for patients and their families – we are so grateful for their altruism and commitment to help progress research and improve outcomes for future patients,’ Jane said.

Much of the research happening at QIMR Berghofer involves patients in some way – either by collecting various samples or information while they receive treatment. In 2019-2020, the Institute led 17 clinical trials, ranging from healthy volunteers taking vitamin D to providing end-of-life patients with experimental treatment. The Institute prioritises research that can be translated from the lab to patient’s care and treatments.

‘Without patients contributing to our research, we wouldn’t be able to progress research at this pace” Professor Hayward said.

‘People like Nicki help create the next generation of medicine that will help save lives.’

Sadly, in 2018, Nicki succumbed to metastatic uveal melanoma. She continued volunteering and championing research at QIMR Berghofer even during the late stages of her life.

Nicki took part in research partly to find out the genotype of her cancer, in the hope it would be suitable for personalised treatment. But she also wanted to progress research into this aggressive disease to help other patients even if it couldn’t help her,’ Glen said.

Glen understands the importance of medical research and supports Professor Hayward’s research financially.

‘What I give isn’t much but maybe it will enable the team to buy a piece of equipment that will lead to a discovery. I want to continue what Nicki has started and help in any way I can.

‘Nicki was an amazing mother and would have been a fantastic grandmother to her two grandchildren, Jamie and Madeline Nicki, whom she unfortunately never had the chance to meet. I take them to the Garden of Remembrance in Toowoomba to visit GrandMa Nicki and share her story with them so they get to know her.’

Nicki’s story and the impact of her determination and generosity certainly lives on beyond her family.

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