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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . It also detected potential disease-causing variants in a further 3.9% Context . The study .

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. With Revio, researchers will be able to access that same great chemistry, but at a much larger scale.” .

Genome 98
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Searching for answers in rare epilepsy

pharmaphorum

Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. Unfortunately, nothing was found in the DDD study, so Charlie’s daughter was also enrolled into the UK 100,000 Genomes Project (GP), which is using whole genome sequencing as a way to diagnose and understand rare genetic diseases.

Genome 102
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Searching for answers in rare epilepsy

pharmaphorum

Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. Unfortunately, nothing was found in the DDD study, so Charlie’s daughter was also enrolled into the UK 100,000 Genomes Project (GP), which is using whole genome sequencing as a way to diagnose and understand rare genetic diseases.

Genome 80
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CRISPR therapies targeting the next breakthrough in oncology

pharmaphorum

As is typical, the research built on work going back years prior, specifically to 1987 when the first CRISPR mechanism was identified in E. coli, and their research in turn formed the foundation for the CRISPR-based therapies being explored to create new treatment options. Why cancer? The pipeline.

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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