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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis. It also detected potential disease-causing variants in a further 3.9% The study . of patients. .

Genome 52
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Why genomic healthcare data matters in the development of new therapies 

Drug Discovery World

One might argue that this all started getting exciting with the launch of the Human Genome Project, which the National Human Genome Research Institute consider to be one of the greatest scientific feats in history 1. DDW’s Megan Thomas observes developments of accessibility in this sector and the potential impact. .

Genome 98
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CRISPR therapies targeting the next breakthrough in oncology

pharmaphorum

In 2012, Jennifer Doudna and Emmanuelle Charpentier published a paper in Science where they outlined isolating the components of the CRISPR-Cas9 system and demonstrated how it could be used to cut specific sites in isolated DNA. The publication and their work eventually led to the pair being awarded the Nobel Prize in Chemistry in 2020.

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The era of precision neuroscience

Drug Discovery World

To find new ways of diagnosing and treating complex diseases we first must understand the mechanisms underpinning their key pathological drivers, how these relate to different patient subgroups, and which drugs might be useful in ameliorating their effects – this is the basis of precision neuroscience.

Genome 64