Combatting cystic fibrosis

Background

Cystic fibrosis (CF) is a life-limiting genetic condition that affects more than 10,000 people in the United Kingdom.

In people with CF, a faulty gene causes thick, sticky mucus to build up in the body’s organs—particularly the lungs and digestive system. This leads to:

• chronic lung infections and inflammation
• breathing difficulties and reduced lung function
• problems digesting and absorbing food.

Cystic fibrosis shapes everyday life. Many people with CF follow demanding daily treatment routines to manage symptoms and prevent complications. Breathlessness, fatigue, and frequent infections can make work, school, and social activities challenging.

The average life expectancy for someone with CF in the UK is around 41 years, so there is an urgent need for awareness, support, and continued progress in treatment and care.

Research

Most current cystic fibrosis (CF) treatments focus on managing symptoms, but do not fix the underlying genetic cause of the disease.

Research conducted by Dr Collie and Dr McLachlan is helping to change that.

Working as part of the UK Cystic Fibrosis Gene Therapy Consortium, their research focuses on gene therapy ie. introducing a healthy copy of the faulty CF gene into a patient’s cells. The aim is to correct the basic defect that causes cystic fibrosis, rather than treating its effects.

Their work has helped move this therapy from early laboratory research, to large animal studies, to the largest ever human gene therapy trial for cystic fibrosis.

Their efforts continue to refine how these therapies are delivered, aiming to make treatments more effective, reliable, and accessible.

Impact

This research has played a key role in demonstrating that gene therapy can deliver meaningful improvements in the lungs of people with cystic fibrosis, and mark an important step toward treatments that address the disease at its genetic root.

Additionally, the tools, techniques, and insights developed through this work could extend beyond CF to potentially benefit research into a wide range of genetic and respiratory diseases.

Dr McLachlan actively shares science with the community and encourages future scientists.

His outreach includes:

• giving talks in local schools about careers in science
• delivering public lectures on his research
• running interactive workshops at science festivals, including the Edinburgh International Science Festival
• creating hands-on activities for open days at the Roslin Institute.

By combining cutting-edge research with public engagement, this work advances medical science and helps build awareness, understanding, and inspiration around genetics and health.

Collaboration

The collaboration between Dr Collie and Dr McLachlan highlights how the environment at LARIF supports translational research, turning scientific discovery into real-world treatments.

Dr Collie brings experience as a practicing veterinarian and a researcher in livestock respiratory physiology, offering deep insight into how lungs function and respond to disease. Dr McLachlan’s expertise is in genetics and cystic fibrosis research, developed during his time at the Medical Research Council Human Genetics Unit.

By combining their complementary skills in physiology and genetics, they have pushed cystic fibrosis research further than either could have alone. Their partnership has:

• accelerated the development of new CF treatments
• strengthened collaboration across disciplines
• delivered meaningful benefits to both the research community and people living with CF.

Publications