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UK agency pilots biobank to study links between genetics and drug side effects

Pharmaceutical Technology

The Yellow Card biobank will launch as a joint venture with the UK-government funded entity Genomics England on June 1. This would ideally allow doctors to use rapid genomic screening tests that can help them to select the safest potential treatment for a patient.

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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. . Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. Context .

Genome 52
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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. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. For some people, a job is more than just a job.

Genome 90
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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. Everything the 100,000 Genomes Project does has to be rubber-stamped by the patients”. For some people, a job is more than just a job.

Genome 79
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Building a better future for people with rare diseases in all four UK nations

pharmaphorum

The Scottish Government has supported the transition of genomic testing for inherited rare disease from the research setting into routine care,” she went on. “As On genomics, he added, the country is going “further and faster”, and ensuring synergy between the Rare Disease Framework and the UK Genomic Healthcare Strategy.

Genome 104
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Women in Science Who Have Paved the Way Forward in Genetics

XTalks

The Human Genome Project recently marked 20 years since the publication of the first full sets of human genomic sequences, an endeavor that spanned well over a decade. Today, new next-generation sequencing technologies allow for the sequencing of complex genomes within just a day or two.

Genetics 119
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Expediting innovation in the rare disease domain

pharmaphorum

Every time a patient with a rare condition walks into a hospital, doctors face the probable challenge of starting from scratch. For instance, the UK government’s 100K Genomes Project has achieved its goal of sequencing the genomes of 100,000 people in 2019.

Drugs 66