We know that research works best when it’s guided by the people it aims to serve. But to many people, the world of lab-based research can feel like a different planet. At the Centre, we’re working to bridge that gap so patients and researchers can communicate effectively about what’s wanted, what’s needed and what’s achievable in terms of our work.
Working to bridge the gap together
When we get these interactions right, it can lead to comments like this: “As someone with PCD, this research makes me feel excited about how treatments might advance in the future. It signals that people care about our life with PCD and are dedicated to improving our care. PCD diagnosis can still be delayed due to gaps in understanding of the genetics. I feel reassured that work is being undertaken to close these gaps and provide more people the answers they need to access treatment.”
These words were written by Rosie, who lives with primary ciliary dyskinesia (PCD), in response to a research summary written by Mafalda, one of our PhD students at University College London. Rosie and Mafalda took part in a recent collaborative project that aims to improve the way we share information about our research.
You can read Mafalda’s research summary and Rosie’s response at the bottom of this page. But first, here’s our own summary of what we were trying to achieve and why.
“Real Research. Real People.”
We wanted to help our mid- and early-career researchers (MECRs) to develop accessible, meaningful research summaries for patient communities. These researchers are highly experienced at presenting their work to other research professionals. But they are often less familiar with explaining it to non-specialist audiences.
Writing a research summary for non-specialists can be tricky. It’s not easy to explain complex science in relatively few words and without using technical vocabulary. And a good summary requires more than a clear structure and straightforward language: medical research is about the hopes and the health of real people, who may be deeply invested in – and affected by – the work that is being done.
Enter “Real Research. Real People.”, a project developed by Issy MacGregor, the Centre’s Patient and Public Involvement and Engagement (PPIE) Manager, and members of our Lived Experience Advisory Panel.
“I think it’s so important to have good lay summaries so that patients with rare respiratory diseases feel seen. Often patients have come on a difficult journey to get a diagnosis. Getting positive experience afterwards can be really important so they can see people are working on these diseases and really give them hope. And hopefully they can begin to put those difficulties behind them and begin to focus on the future.”
Prioritising the patient’s perspective
To start the process, each of our MECRs wrote a summary of their work which was shared with a patient partner to read and review. With that feedback fresh in their minds, the MECRs attended a workshop that provided them with an opportunity to learn and reflect together and fine-tune their summary.
Rather than focusing on readability alone, this work put the patient experience front and centre. The researchers considered how a patient might interpret the information they were reading and how they might feel as a result. Writing for patients requires a different mindset from writing for a committee reviewing grant applications: the change in perspective has implications for a summary’s content, focus and structure.
The differences continue with language: even people with strong reading skills can struggle to take in information when they are distracted, stressed or unwell. Apparently simple terms can cause confusion: ‘protein’ and ‘culture’ are good examples of words that have very different meanings in the lab and the world outside.
People with rare conditions have an additional challenge: large charities often have research teams that analyse and summarise the latest findings for common conditions; people with rare or ultra-rare conditions may have no choice but to read the original scientific articles. Clear, accessible information is vital.
Thank you to everyone who took part
As a result of this process, our patients and other partners will have access to clearer, more accessible information about our research and the Centre’s researchers have a renewed appreciation of the benefits of working with patients. We would like to thank Rosie and the other patients who took the time to share their thoughts and participate in this process. All of the Centre’s mid- and early-career researchers took part in this process and were truly appreciative of and receptive to the useful feedback they received.
We look forward to sharing more summaries as we expand the research-focused content on this website.
Primary ciliary dyskinesia (PCD) is a rare inherited condition that affects the tiny hair-like structures (cilia) that line the airways. When cilia do not work properly, people can develop lifelong lung infections and breathing problems. They can also develop ear, nose and throat (ENT) complications, such as hearing difficulties and chronic sinus infections.
Genetic testing is an important part of diagnosing PCD. However, around one in three people with PCD do not receive a genetic diagnosis. This is because it can be difficult to identify and interpret the genetic changes responsible for the condition.
Our research aims to improve the quality and consistency of the genetic information used to diagnose PCD. We worked with international experts to review the evidence linking genes to PCD and identify which genes are reliably associated with the condition. We also developed CiliaVar, a database that brings together published genetic changes found in people with PCD – alongside clinical and diagnostic information – into a single reliable resource.
Our work has shown that some genes included in genetic testing panels used by diagnostic laboratories have limited or uncertain evidence linking them to PCD. At the same time, some well-established PCD genes are missing from many of these panels. These issues meant that potentially important genetic changes could be overlooked during diagnosis. CiliaVar now contains information from more than 2,300 people with PCD and over 1,400 unique genetic changes, which makes it one of the largest curated resources of its kind.
This work improves the evidence behind genetic testing and providing a trusted resource for clinicians and researchers. It is intended to help more people receive an accurate genetic diagnosis, support appropriate care for patients and families, and accelerate future research into new treatments for PCD.
Mafalda is a PhD student at University College London
As someone with PCD, this research makes me feel excited about how treatments might advance in the future. It signals that people care about our life with PCD and are dedicated to improving our care. PCD diagnosis can still be delayed due to gaps in understanding of the genetics. I feel reassured that work is being undertaken to close these gaps and provide more people the answers they need to access treatment.
The dream for me is a breakthrough like the modulators for CF. This genetic research for PCD lays the foundation for targeted therapies which could be revolutionary, life-saving drugs. It makes me hopeful to think that future generations of PCDers might exist in a totally different treatment landscape to us, less physio, fewer admissions, more time and energy to live life.
For me, the ENT manifestations of PCD are significant and interfere with my ability to socialise (hearing loss). This is a distinctive feature of PCD which I think can be lost when we are put under the CF/bronchiectasis umbrella. Lung health is the focus of most clinic visits, and there are often far fewer recommendations when struggling with ear and sinus problems. I think research should always mention the effects PCD has on the ENT system to improve awareness amongst clinicians and encourage more consideration of ENT symptoms and their treatment.
Rosie lives with primary ciliary dyskinesia (PCD)