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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% of patients. .

Genome 52
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Why genomic healthcare data matters in the development of new therapies 

Drug Discovery World

Genomic healthcare data is critical to identify disease risk, ancestry, traits and response to medicines and aids in the development of new targeted therapies – precision medicines. In April 2003, after its launch in October 1990, the project was completed, generating the first sequence of the human genome.

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”. Charlie’s daughter was enrolled into the DDD study to try and understand the genetic basis for her epilepsy – and Charlie joined Congenica himself as the patient advocacy and engagement lead. “It

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”. Charlie’s daughter was enrolled into the DDD study to try and understand the genetic basis for her epilepsy – and Charlie joined Congenica himself as the patient advocacy and engagement lead. “It

Genome 73
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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