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Genomic projects exploit scale as clinical applications play catch-up

Pharmaceutical Technology

In the same space, a different team of Cambridge scientists used whole genome sequencing to map out the largest sample of mutational signatures yet. The team identified 58 entirely new signatures and developed a computer tool that can help oncologists spot these signatures in individual patients.

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Can genetic data be a magic bullet for drug R&D?

pharmaphorum

Drug development has long been an issue for the pharma industry, due to the expense and the high failure rate of potential treatments. Ben Hargreaves finds that the vast amount of genetic data that exists today could help provide a faster, more targeted way of developing new drug candidates.

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A new dawn of the genomic age: five areas set to be transformed in 2023

pharmaphorum

We are already seeing an increase in projects exploring population genomics in Africa, the Middle East, and Asia, with initiatives including the GenomeAsia100K Project and the Genome Aggregation Database focusing on capturing genetic data of non-European individuals.

Genomics 129
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Building a better future for people with rare diseases in all four UK nations

pharmaphorum

Chaired by the Genetic Alliance, the virtual meeting saw representatives from Scotland, England, Wales, and Northern Ireland discuss the implementation of the UK Government’s Rare Disease Framework. We now know that 80% of rare diseases have a genetic origin. We need action plans to be comprehensive and ambitious.

Genomics 111
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Searching for answers in rare epilepsy

pharmaphorum

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genomics 103
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The future of genomic medicine: can it fulfil its promises?

pharmaphorum

Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for his children’s rare neurological diseases. Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential. Enhancing sequencing.

Genomics 119
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A history of blood cancer treatment

pharmaphorum

Similar to Newbury, McBean – known to be a highly respected tradesman – developed fatigue and severe pain from weak and easily broken bones. During this period, Nobel prize-winning German scientist Paul Ehrlich developed his lock-key hypothesis of molecules that specifically bind to cell receptors.