‘Mini-organs’ to diagnose rarer forms of cystic fibrosis

30 May 2024

An innovative new research study aims to determine if ‘mini-organs’, also known as organoids, can be used to diagnose rarer forms of cystic fibrosis (CF), and test new treatments.

Led by Professor Nicholas Simmonds, respiratory consultant at Royal Brompton and Harefield hospitals, the project is funded by Cystic Fibrosis Trust through their Development Awards scheme. One of the principles of funding was that the research must be scientifically excellent and conducted by an internationally leading research team.  

This is the first round of this scheme and only 2 projects were awarded across the UK.

What are organoids?

Organoids, also known as ‘mini-organs’, are microscopic sized versions of an organ grown in a lab from a few cells. They look and act similar to the organ from which they come from.

The process involves taking a sample from the gut, in a quick and painless procedure. The sample is then grown under laboratory conditions to produce the organoids.

The organoid will have the exact same genetic information as the individual who provided the sample and can therefore be used to determine how that individual’s organ is working and how it responds to certain treatments.  

Diagnosing rare forms of CF and testing new treatments

Currently, there are several methods for diagnosing CF including sweat testing and genetic analysis.

However, a sub-group of people have borderline diagnostic results by these traditional methods and remain undiagnosed, particularly if they have rare CF-gene mutations. Not receiving a conclusive diagnosis can cause distress for individuals and their families, with missed opportunities for effective treatment - this research hopes to fix that.

As organoids contain a person’s exact genes, they have the potential to show if the CF gene is not working correctly. The organoid can also be used to determine which available treatments would work best for the individual. This is especially important as those with rarer gene mutations are usually excluded from conventional clinical trials because they require large numbers of patients with the same/similar defective gene.

Organoids therefore have the potential to diagnose people faster and offer individuals the best treatment quicker.

Professor Simmonds, respiratory consultant, explained why this research is much needed.

He said: “This is a fantastic opportunity to maximise our diagnostic capabilities for this important group of individuals who often go undiagnosed for many years, which causes huge distress. It will build on our national ‘Difficult CF Diagnosis’ service, providing vital research in organoids with the aim of bringing a seamless approach from accurate diagnosis to the delivery of effective treatments.

“I am absolutely delighted to be the one of the first researchers to receive this prestigious and highly competitive award from Cystic Fibrosis Trust. It provides a unique opportunity for me to collaborate closely with world leaders in the area, such as University Medical Centre, Utrecht, Netherlands, and bring together experts from Kings College London, Imperial College London and Kings College Hospital. I am very grateful to Cystic Fibrosis Trust for this opportunity.”

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