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Genetic screening service enables PCD gene discovery

20 February 2017

Gene key

A team at UCL Great Ormond Street Institute of Child Health and University College London working with the Royal Brompton Hospital have identified a new gene which causes the lung condition Primary Ciliary Dyskinesia (PCD). Working with researchers from around Europe including hospitals in Italy, Switzerland and France, the team have shown that the condition can be 'X-linked' meaning it is passed from mothers to their sons.

PCD is an inherited ‘ciliopathy’ condition in which mucus isn't cleared properly from the airways. Children with PCD are prone to repeated chest infections and a constant runny nose. Following repeated infections the lungs can become irreversibly damaged. (www.pcdsupport.org.uk)

The discovery, published in the journal Nature Communications this week (http://www.nature.com/articles/ncomms14279) was enabled by the ciliopathies genetic screening service at the UCL Great Ormond Street Institute of Child Health.

(http://www.gosh.nhs.uk/research-and-innovation/nihr-great-ormond-street-brc/brc-news/new-genetic-diagnostic-service-ciliopathy-disorders-has-been-launched)

Children with PCD are often diagnosed late by which time significant lung damage can occur. Our joint gene discovery program with Great Ormond Street Hospital is allowing us to make an earlier more accurate diagnosis. This in turn results in less lung damage.

Hannah Mitchison, GOSHCC Reader in Molecular and Medical Genetics at UCL Great Ormond Street Institute of Child Health said, “We have identified an X-linked cause of PCD which has important implications for genetic counselling. This study identifies tiny parts of the lung, as small as 9 millionths of a millimeter, missing in individuals with mutations in this X-linked gene.” 3D technology combined with genetics is allowing a better understanding of PCD which improves the ability to make a diagnosis. Discoveries such as these should ultimately provide new options for genetically targeted treatment too.