Primary ciliary dyskinesia: helping communities at risk of this debilitating illness | Children's Charity

Primary ciliary dyskinesia: helping communities at risk of this debilitating illness

This research was completed on 16 July 2015

Published on 21 February 2013

Children in some communities are at unusually high risk of developing a debilitating, lifelong, inherited illness called primary ciliary dyskinesia (PCD), which causes recurrent ear and chest infections, often leading to permanent lung damage. Dr Hannah Mitchison, of University College London Institute of Child Health, is hunting for genetic changes that cause PCD in a community at risk. She hopes to enable earlier diagnosis, so children can get treatment sooner, which could ease their symptoms and slow disease progression.

What is the problem and who does it affect?

“PCD is usually thought of as a rare illness, with estimates suggesting one in every 15 to 30 thousand babies are affected.” explains Dr Mitchison.1 “However, a community of British Asians living in the Bradford area are particularly vulnerable to developing PCD – with one in every 2,265 children having the illness.1

“Symptoms of PCD often begin soon after birth, with babies needing oxygen because of breathing difficulties,” explains Dr Mitchison. “Children with the illness can face a lifetime of recurrent chest and ear infections. They often develop hearing loss and need hearing aids. Some find their lungs become permanently damaged, meaning they eventually need surgery to remove part of their lung. Some even need a lung transplant.”

If PCD is correctly diagnosed, children are offered twice-daily physiotherapy, which helps clear their lungs. Many also take antibiotics regularly to tackle infections. Treatment can relieve children’s suffering, help stop their illness from getting worse and protect their lungs from permanent damage.

“Unfortunately, long delays in diagnosis mean children can suffer unnecessarily severe symptoms,” explains Dr Mitchison. “Many have advanced lung damage before anyone realises what’s wrong. Better diagnosis and care are needed urgently.”

What is the project trying to achieve?

“We aim to find out why people from the British Asian community, for example those living around Bradford and Leeds, are at increased risk of developing PCD, by looking for the genes that cause their illness,” explains Dr Mitchison. “This would enable us to develop new genetic tests for PCD. Benefits would include quicker, simpler and cheaper diagnosis within this community. The children’s illness could be diagnosed earlier, so they could get treatment sooner, which could improve their health and quality of life. Families would also have the option of finding out what their chances are of having a child with PCD.”

Dr Mitchison expects more than 30 people with PCD to participate in this study by donating samples of their saliva. “We anticipate that our work will eventually help all families with PCD,” says Dr Mitchison. “Improving understanding of what causes the illness will enable us to work towards better treatments.”

What are the researchers’ credentials?

Dr Mitchison and her 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, having already contributed to the identification of 10 genes for PCD. They have teamed up with Dr Eduardo Moya, who treats children with PCD in the Yorkshire area. They are also collaborating with teams from the UK’s four specialist PCD diagnostic and management services.

Project LeaderDr Hannah M Mitchison BSc PhD
Project team
  • Dr Eddie M K Chung MB, ChB, MRCP (UK), MD
  • Dr Eduardo Moya LMS, MRCPCH
LocationMolecular Medicine Unit and General Adolescent Paediatrics Unit, University College London, Institute of Child Health, London
Other locations
  • Department of Paediatrics, Bradford Royal Infirmary
Duration2 years
Grant awarded12 November 2012
Start date17 July 2013
End date16 July 2015
Grant amount£118,734.00
Grant codeGN2101

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  1. O’Callaghan C et al. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child 2010; 95: 51-2
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