Pleasantine Mill is to co-lead the newly announced £9.4M LifeArc Centre for Rare Respiratory Diseases

LifeArc launches £40M research centres that will unlock new tests, treatments and cures for people living with rare diseases, including rare respiratory diseasese like primary ciliary dyskinesia, with the announcement of a LifeArc Centre for Rare Respiratory Diseases led by Edinburgh, Dundee, UCL, Southampton, Cambridge and Nottingham.

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Latest paper alert- The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes

Limited epidemiology suggests broad genotype-phenotype relationships for several common PCD genes. For yet undetermined reasons, severe disease is associated with variants in some genes (e.g., CCDC39, CCDC40) and mild disease in others (e.g., DNAH9, RSPH1) . However, little is known about clinical features of patients with different variants in the same PCD gene. We use engineered mouse mutants and patients with variants in HEATR2/DNAAF5 to explore allele dosage effects for PCD genes for the first time. Read more….

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