Improving diagnosis for children suffering from a lifelong illness | Action Medical Research

Improving diagnosis for children suffering from a lifelong illness

16 February 2011

Scientists are hoping their work will help to improve the lives of hundreds of children suffering from a debilitating illness by providing a better and quicker diagnosis. The research team has been given a grant by children’s charity Action Medical Research, to look into the genetics behind primary ciliary dyskinesia (PCD).

Each year in the UK, over 100 children are diagnosed with PCD.[i],[ii] The children suffer recurrent ear and chest infections, with some eventually needing a lung transplant, typically during adulthood.

Children with PCD all have abnormal cilia – tiny hair-like projections, which line the airways and ears. Cilia are supposed to beat rapidly, to sweep germs and dust out of the lungs. In PCD, cilia don’t work properly. Their beating action is sluggish or absent. Mucus and bacteria build up in the airways, making children susceptible to infection and congestion.

Research project leader, Dr Hannah Mitchison, said: “Early diagnosis can relieve children’s suffering by giving them access to treatment that eases symptoms and slows disease progression. There is no cure for PCD, but the earlier a child’s illness is diagnosed, the sooner the most appropriate treatment can begin and the better their quality of life.

She added: “However, currently the diagnostic process is complicated, unpleasant and often lengthy. PCD sometimes goes undiagnosed, or is mistaken for other illnesses, such as cystic fibrosis or asthma, which cause similar symptoms.”

The researchers from the Molecular Medicine Unit and General and Adolescent Paediatric Unit, Institute of Child Health, University College London, are hunting for genes for PCD, in the hope of simplifying diagnosis and improving children’s lives.

They envisage the development of a ‘PCD chip’, which could enable quick, one-stop, non-invasive screening of children for all the genes that are known to cause PCD. This could spare children from having to visit specialist centres for lots of unpleasant tests, such as biopsies of the lining of their nose.

Once their illness is correctly diagnosed, children are offered regular, twice-daily physiotherapy, which helps clear their lungs. Many also take antibiotics on a regular basis to tackle infections. The right treatment can relieve children’s suffering, help stop their illness from getting worse and protect their lungs from permanent damage.

PCD is an inherited illness. Research has already identified genetic changes – or mutations – that cause PCD in nine different genes. However, only around 40 per cent of children with PCD have one of these mutations.[iii] The genetic cause of the other children’s illness remains unknown. The researchers are therefore hunting for more of the genes that cause PCD. All of the genes for PCD that have been identified so far cause cilia to be abnormal.

In this project, the researchers are studying the DNA of 24 children with PCD from 11 different families. The children’s parents and siblings are also taking part in the study. The children all have abnormalities in specific components of cilia, called radial spokes. The researchers are hunting for the genetic changes that cause these abnormalities.

Alexandra Dedman, Senior Research Evaluation Manager with Action Medical Research, said: “We are delighted to be funding this innovative research into this rare condition which affects children. The project leader, Dr Hannah Mitchison and her clinical colleague, Dr Eddie Chung, have been investigating the genetic causes of PCD for over a decade.

“They are leading experts in this area of research and have an excellent track record. They played a vital role in identifying five of the nine genes for PCD that have been published to date. Only four other groups in the world can claim to have similar expertise in the genetics of PCD,” 


For further information please contact:

Claudine Powell, Communications Manager

T: 01403 327478



Action Medical Researchis the leading UK-wide medical research charity dedicated to helping babies and children. We know that medical research can save and change children’s lives. For nearly 60 years we have been instrumental in significant medical breakthroughs, including the development of the UK polio vaccine and ultrasound scanning in pregnancy. Today, we continue to find and fund the very best medical research to help stop the suffering of babies and children caused by disease and disability. We want to make a difference in:

  • tackling premature birth and treating sick and vulnerable babies
  • helping children affected by disability, disabling conditions and infections
  • targeting rare diseases that together severely affect many forgotten children.


[i] National Commissioning Group Diagnostic Service. 2010. Personal correspondence.

[ii] A. Barbato et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009; 34(6):1264-76.

[iii] Leigh MW et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet med 2009; 11(7):473-87.


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