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Nucleic acid based therapies: developing frontier for precision medicine

BMJ 2018; 360 doi: (Published 23 January 2018) Cite this as: BMJ 2018;360:k223
  1. Munir Pirmohamed, professor
  1. Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK
  1. munirp{at}

Affordability will be the key challenge

The genomic revolution, heralded by completion of the human genome project, is providing unprecedented knowledge of the underlying genetic basis of disease. In the UK, the 100 000 genomes project is beginning to uncover the genetic basis of rare diseases, ending the diagnostic odyssey that many families have had to face up to now. Precision diagnosis, however, is only the first step in the development of new precision therapies. The molecular basis of disease needs to be understood to enable the development of treatments targeted at individuals with specific mutations, to repair or overcome the underlying molecular defect.

Understanding of the molecular basis of cystic fibrosis has already led to the development of small molecules, such as ivacaftor, that improve the functioning of the cystic fibrosis transmembrane conductance regulator (CFTR) in people with the G551D gene mutation—around 4% of those with cystic fibrosis.1 Identifying novel mutations can also allow the repurposing of existing medicines. An example is the use of high dose riboflavin in childhood motor neurone disease, a condition caused by mutations in …

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