Monday 12th
November 2018
BCW Commits nearly £10,000 to fund genetics research at Cardiff University
The Inherited Tumour Syndromes Group works with patients who have a genetic condition which means that they are more susceptible to getting bowel cancer than the rest of the general population.Their aim is to develop a better strategy to assess risk of bowel cancer and to target the things that are going genetically wrong in these patients which will lead to them getting bowel cancer. The group are eager to explore ways to get ahead of the cancer, treating the disease before it starts.
They do this by getting samples during patients camera investigations (endoscopies) and from surgery. They then develop cell models from the stem cells found in the patients tissues and find the genetic mutations in these cells. Through that, they can target the genes that are in trouble, the so called ‘drivers’ of the disease, to prevent cancer growth. The patents they work with have rare genetic conditions but this is also likely to translate to people in the wider population who have bowel cancer.
We caught up with Dr Laura Thomas who is leading the research:
"After a PhD looking at a rare genetic condition (NF1) my research has been looking at the genetic causes of bowel cancer.
I focus on the duodenum (the small bowel) and in particular, I am dealing with a cohort of patients who have a genetic susceptibility to bowel cancer.
When these patients get bowel (colorectal) cancer, there is surgery available, but they will continue to be susceptible to other diseases, including small bowel cancer. There is no treatment for small bowel cancer at the moment. It is difficult to remove as it is linked to other key parts of the body.
My aim is to develop a better strategy to assess risk and to target the things going genetically wrong pre-cancer, getting ahead of the cancer, treating the disease before it starts.
- Who is at risk? Why, genetically?
- What genetic mechanisms can we treat to prevent cancer?
We do this by going to appointments with clinicians and patients, getting samples from endoscopies and colonoscopies and from surgery, and then developing cell models from stem cells, finding the mutations in the cells. We then target the genes that are in trouble, the drivers of the disease, to prevent cancer growth. Our patients have rare genetic conditions but this is likely to translate to the wider population.
I hope to develop a strategy to monitor and treat high-risk patients to the point where they don’t get cancer. I hope one day that being ‘at risk’ won’t equate to a bowel cancer diagnosis.
We care about our patients. We analyse their samples, we read their medical histories, sometimes we meet them and sometimes we meet their families, getting a human perspective on the written medical details. It’s genuinely upsetting when we hear someone has died. We don’t want to lose sight of why we are doing our research and what the end goal is.
FLICR enabled me to transition back into research after maternity leave, develop non-typical research skills, and helped me begin a fellowship application to continue this vital work in the causes of cancer. "
For further information on the group's work, please visit: http://www.cardiff.ac.uk/research/explore/research-units/inherited-tumour-syndromes
