Hunting for genes to aid early diagnosis for debilitating illness | Action Medical Research

Touching Lives - March 2011

Hunting for genes to aid early diagnosis for debilitating illness

Primary ciliary dyskinesia (PCD) symptoms often begin soon after birth, but the illness sometimes goes undiagnosed or is mistaken for conditions with similar symptons. Even when suspected, diagnosis is a complicated and unpleasant experience for a child. 

Children with PCD have abnormal cilia – tiny hair-like projections which line the airways and ears. The cilia should help to keep germs away from the lungs, instead bacteria and mucus build up inviting infection and congestion.
 
Genetic changes – or mutations – that cause the illness have been found in nine different genes already. However, only about 40 per cent of children with PCD have one of these mutations. Researchers are hunting for more genes in this project supported by a generous grant from The Henry Smith Charity. 
 
Project leader Dr Hannah Mitchison and Dr Eddie Chung envisage developing a ‘PCD chip’ to enable rapid, one-stop, non-invasive screening for all applicable genes. Although PCD is incurable, earlier diagnosis means treatment can begin sooner.
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