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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. Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. The study .

Genome 52
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COSMIC database matches drugs to cancer mutations

pharmaphorum

The COSMIC (Catalogue of Somatic Mutations in Cancer) database, operated by the Wellcome Sanger Institute, grew out of the work of the Cancer Genome Project and has been gathering data on mutations associated with specific cancers for almost 17 years.

Drugs 59
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Exa-Cel CRISPR Gene Therapy for Sickle Cell Disease Deemed Safe by FDA Advisory Panel

XTalks

CRISPR works as genetic scissors to edit parts of the genome. The companies used data from the 1,000 Genomes Project but from that, only 61 datasets made the cut to encompass the ideal patient population. “I The CRISPR-Cas9 gene editing system was first discovered to be endogenous in bacteria.

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Expediting innovation in the rare disease domain

pharmaphorum

Small sample size in trials: Finding eligible patients for clinical trials of orphan medicines is a big challenge. Genetic testing has played a big role in enhancing the diagnosis process. For instance, the UK government’s 100K Genomes Project has achieved its goal of sequencing the genomes of 100,000 people in 2019.

Drugs 78
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Unlocking disease treatment with large-scale research

pharmaphorum

A few decades ago, gathering genetic data on the scale of the 100,000 Genomes Project would have been unthinkable – it was only in 2003 that the entire human genome was mapped. However, the scale goes far beyond 100,000 genomes and instead is looking to recruit five million adult volunteers. Aims for the project.

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Where is the drug discovery expertise happening in the UK?

Drug Discovery World

From the Beatson Institute for Cancer Research in Glasgow, to Edinburgh Drug Discovery in the University of Edinburgh’s Institute for Genetics and Cancer (IGC). Emerging UK biotech firms like Mosaic Therapeutics, Enhanc3D Genomics, and Nucleome Therapeutics are using these genomic insights to innovate.”

Drugs 75
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The era of precision neuroscience

Drug Discovery World

The development of effective new disease-modifying treatments in neurodegenerative and neuropsychiatric disorders has been hindered by their inherent genetic complexity, environmental influences, and clinical variability. This is comparatively easier to accomplish in these diseases because they are relatively monogenic.

Genome 64