Developing an experimental platform to test new polyp-prevention therapies in familial adenomatous polyposis

Lead researcher: Dr Anna Maria Ochocka-Fox 

Location: University of Edinburgh

Grant award: £24,341

Dr Ochocka-Fox is using tissue from people with familial adenomatous polyposis (FAP) to build a new resource to support research into better treatments for this condition. 

The challenge 

FAP is a rare inherited condition that causes people to develop a large number of polyps (non-cancerous growths ) in their bowel. People with this condition have an almost 100% risk of developing bowel cancer before the age of 40. It is caused by an inherited mutation of a specific gene called the APC gene. 

Many people with FAP have preventative surgery to remove their whole bowel. But this has significant impact on health and wellbeing. So, there is a need to develop new therapies that can slow these polyps from forming or progressing in to cancer. 

The science behind the project 

This project will set up a research tool that can be used to test new therapies. The researchers will take polyps from FAP patients and grow them into mini organs called organoids, 3D ‘miniguts’ that replicate some of what is found in the bowel.

In each polyp they'll study specific mutations and measure the activity of the biological pathway these mutations act in. The organoids will then be stored to be available to test treatments. 

What difference will this project make? 

Providing a bank of organoids as a test platform will support the development of new therapies for FAP patients. This could reduce the need for preventative whole bowel removal, without increasing cancer risk, which would greatly improve quality of life for people with FAP. 

Studying the specific mutations and biology of each different organoid will increase our understanding of the condition. 

Around 80% of bowel tumours in people who have bowel cancer, but don’t have FAP, have a mutation in the APC gene. This means insights from this project could have benefits for bowel cancer patients beyond just those with FAP. 

• For more information see our announcement of the grant 
  

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