So far more than 7,000 young patients who have come through Southampton’s PCD clinic have benefited from the improved diagnostic tools.
Over the last 20 years the research, led by Professor Jane Lucas, from Medicine, has advanced the
understanding of the genetic cause of this rare disease, improved management options for patients
and developed new tools to identify and diagnose potential cases.
Understanding PCD
PCD is a genetic disease that causes chronic infections in the ears, lungs and sinuses. It affects the
cilia, small hair-like structures that line the airways.
These cilia normally ‘beat’ in a coordinated manner to move mucus, dust and bacteria out of the
lungs. But in patients with PCD, the cilia do not function properly, leading to a build-up of these
particles in the lungs, causing infection and progressive lung damage. There is no single test to
diagnose for PCD.
Research by Jane and the team have:
- identified mutations in several genes that are responsible for causing PCD. Four of these
mutations are now included in genetic testing panels worldwide - developed a tool called PICADAR which is now being widely used internationally in clinics and
research to assist clinicians in deciding which patients to send for diagnostic testing - created a quality of life tool (QOL-PCD) that has been adopted by more than 60 global
research and clinical communities
Jane’s colleague Dr Claire Jackson, from Medicine, has also worked closely with Southampton’s
Biomedical Imaging Unit to develop better ways of examining the structure and function of the cilia,
and with Dr Bruna Rubbo, from Medicine, has demonstrated that high-speed video microscopy
imaging is a reliable diagnostic test.
Claire also developed cultures of airway cells that enabled the testing of potential new treatments for
PCD assessing the effects of drugs, bacteria and viruses.
Bruna has used innovative statistical methods to understand genotype-phenotype associations in
PCD. She has also led international research to better understand clinical outcome measures as a pre-
requisite for clinical trials.
Our 20 years of impactful research at Southampton into Primary Ciliary Dyskinesia (PCD) is enabling young children to receive better diagnosis and access to treatment. We are also developing the next generation of PCD researchers to continue advancing our understanding of the genetic cause of this rare disease.
Professor Jane Lucas
Improving diagnosis and treatment
The research has led to the average age of diagnosis falling from age six to two, meaning patients are
being diagnosed and able to begin treatment earlier.
This means the parents of these young children can access services and care, and have a label for
their child’s symptoms that they can communicate to others involved in their child’s life such as
teachers and relatives.
Southampton is part of the recently established LifeArc Centre for Rare Respiratory Diseases that will
advance search for treatments for PCD, including pre-clinical testing of potential treatments using
DNA sequence edited cell lines that will be developed by the Southampton PCD group.
