PhD student investigates the health of Welsh cystic fibrosis carriers to pave the way for future researchers

To mark Jeans for Genes Week 2023 (18-24 September), Robert Maddison, a researcher funded by Health and Care Research Wales Faculty, discusses his study into the health of carriers of cystic fibrosis.

Robert, who received a Health and Care Research Wales Health PhD Studentship, hopes this project will drive future cystic fibrosis research and treatment to improve the lives of people who have the condition and their families in Wales and beyond.  

Using anonymised data hosted by the Secure Anonymised Information Linkage (SAIL) Databank, Robert is investigating the degree to which carriers of cystic fibrosis, a genetic condition which causes severe damage to the lungs, digestive system and other organs, are at risk of developing conditions related to the disease, such as diabetes, bronchiectasis and pancreatitis.  

The study will also look at whether environmental factors affect their chances of developing these conditions, alongside their genetics. 

According to the Cystic Fibrosis Trust, over 500 people have been diagnosed with the condition in Wales. Around one in 25 people are carriers of the condition, meaning they have one of the two necessary non-functioning gene mutations to pass it down to their children. An individual must inherit two non-functioning cystic fibrosis genes – one from each parent – to have cystic fibrosis. 

Robert said: “It has long been thought that carriers of cystic fibrosis are just as healthy as the general population. However, recent research has indicated that carriers of the disease may be at elevated risk of cystic fibrosis associated conditions.” 

My project aims to first validate what this recent research has found and then further investigate these risks. Ultimately, we want the best information for cystic fibrosis carriers and their healthcare professionals to potentially detect and treat these conditions early.” 

“We want to understand if particular cystic fibrosis genetic mutations contribute to increased risks of carriers developing associated conditions. We also want to find out if there are more conditions carriers may be at risk of developing than those already investigated, such as dietary intolerance.” 

Robert is using anonymised Welsh hospital, GP and census records to understand what health conditions cystic fibrosis carriers are developing, then compare those results with the cystic fibrosis patient community and the general population.  

“The huge gains for the cystic fibrosis community in recent years are a direct result of the conversation between families and researchers. I am excited to be a part of the new generation of researchers pursuing these avenues and working for a real impact for those with cystic fibrosis in their lives.”    

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