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

Pharmaceutical Technology

The Medicines and Healthcare products Regulatory Agency (MHRA) aims to launch a pilot genetic biobank that will gather patient data to associate drug-related adverse events to their genetic makeup. The Yellow Card biobank will launch as a joint venture with the UK-government funded entity Genomics England on June 1.

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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.

Genome 52
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Building a better future for people with rare diseases in all four UK nations

pharmaphorum

Chaired by the Genetic Alliance, the virtual meeting saw representatives from Scotland, England, Wales, and Northern Ireland discuss the implementation of the UK Government’s Rare Disease Framework. In the future, Gourgeon went on, the data will help NHS Scotland to understand the impact of antenatal screening and to better support research.

Genome 111
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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. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 102
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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. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 80
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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. Here are the challenges that the medical community faces, most of which relate to the lack of research data, high cost of developing treatments or orphan drugs and greater chances of failure. .

Drugs 78
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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. Rosalind Franklin.

Genetics 119