Remove Clinical Trials Remove Genetics Remove Genome Project Remove Medicine
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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.

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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Expediting innovation in the rare disease domain

pharmaphorum

The field of medicine is riddled with challenges pertaining to diagnosis and finding treatment therapies for rare diseases. 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.

Drugs 55
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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.

Genome 107
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Predictive diagnostics: closing the precision medicine gap

Drug Discovery World

Jarret Glasscock , PhD, CEO of Cofactor Genomics explains how diagnostics are emerging as the key to ensuring the right patients get matched to the right therapy, at the right time. . Precision medicine promises a paradigm shift to confidently match the right patients to the right treatment at the right time.

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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. This is the way in which the UK’s Our Future Health research programme aims to provide a breakthrough in healthcare and medicine.

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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