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Hannah Farley answered on 19 Jun 2018:
So we think that the reason lots of heart defects occur is partly genetic – it would be helpful to be able to tell patients what the cause of their defect was, to help diagnose patients and to predict what might happen to them in the future. MY work also links to a rare disease called primary ciliary dyskinesia (https://www.blf.org.uk/support-for-you/primary-ciliary-dyskinesia-pcd) – we don’t know all the genes that cause this, and it’s hard to diagnose, so it would be good to be able to screen patients with the right symptoms for every possible gene, to see if they have the disease. Hopefully I will also find out things that help us understand the disease itself, because if we don’t understand that then we can never work out how to treat it.
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