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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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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 86
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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 73
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CRISPR therapies targeting the next breakthrough in oncology

pharmaphorum

Cancer is a genetic disease, caused by certain changes in the way that genes control cell function, such as how they grow and divide. Beyond these potential indications, one area that represents a large amount of research and potential is for CRISPR technology to provide new solutions in oncology. Why cancer?

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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