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 used 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 in their bowel and gives an almost 100% risk of developing bowel cancer before the age of 40. It’s caused by an inherited mutation of the APC gene.

Many people with FAP have preventative surgery to remove their whole bowel, but such a surgery has significant health and wellbeing impact, and so there’s a need to develop new therapies that can slow these polyps from forming or progressing to cancer. 

The science behind the project 

This project established a new research tool that can be used to test such new therapies. The researchers took polyps from FAP patients and grew them into organoids, 3D miniguts that replicate some of the tissue structures found in the bowel.

In each polyp they studied the specific APC mutations and measured the activity of the biological pathway that APC acts in. The organoids were then stored to be available to test treatments.

Results

Dr Ochocka-Fox has successfully created organoids from 21 patients at the Western General Hospital in Edinburgh. These are stored and continue to be used by the lab to study APC mutations. 

Having this resource available helped to successfully apply for over £1 million of further funding from the Medical Research Council and Cancer Research UK. These grants are for more work to improve our understanding of bowel cancer and develop drugs to prevent cancer development in FAP.

What difference will this project make? 

Providing a bank of organoids as a test platform will support development of new therapies for FAP patients, both for prevention and treatment. Reducing the need for preventative whole bowel removal without increasing cancer risk would greatly improve quality of life for people with FAP. 

The study of the specific mutations and biology of each different organoid will also increase our understanding of the condition. 

Around 80% of sporadic bowel tumours in people without FAP have a mutation in the APCgene, so insights from these organoids could also have wide benefits for bowel cancer patients beyond the FAP group.

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