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NHS Wales partners with Illumina on genomics drive

pharmaphorum

Wales has extended a scheme to harness the power of genomics to improve cancer care and prevention via an alliance with gene-sequencing giant Illumina.

Genome 105
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Gene sequencing identifies rare pediatric disorders in Mexico

BioPharma Reporter

A new genetic sequencing technology from Element Biosciences has helped researchers from the Translational Genomics Research Institute (TGen), part of the City of Hope, identify the likely genetic causes of disorders in six of nine children from Sonora, Mexico.

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Ring 20: Could the rare disease get left behind by next-generation gene sequencing?

pharmaphorum

Ring Chromosome 20 Syndrome, or (R)20, is an ultra-rare form of epilepsy with a devastating impact – yet despite huge leaps forward in gene sequencing in recent years, diagnoses are going down instead of up. The post Ring 20: Could the rare disease get left behind by next-generation gene sequencing? appeared first on.

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Precision Bio climbs on near-$1.5bn sickle cell pact with Novartis

pharmaphorum

The deal comes a year after Intellia and partner Regeneron reported promising results from the first clinical trial of a drug used to edit the genomes of cells within the body, in patients with rare disease ATTR amyloidosis. billion in potential milestones if the project advances through development and onto the market.

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New CRISPR-Based Tool Called PASTE Gene Editing Inserts Large DNA Sequences at Desired Sites

XTalks

The CRISPR-Cas9 gene editing system uses a programmable single guide RNA sequence (sgRNA) to find and bind to specific regions of DNA and the Cas9 nuclease induces double strand breaks at these target regions of the genome. The researchers reported very few unwanted deletions or insertions at the sites of gene integration.

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Next Generation Sequencing (NGS) Library Preparation Kits Market: Current Scenario and Future Potential

Roots Analysis

Since the introduction of a gene sequencing method by Frederick Sanger in 1977, the field of genomic data collection and analysis has evolved significantly. Moreover, the manual protocols require extensive manipulation, costly reagents and long duration of skilled genomic library production.

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Sensyne, Oxford University deploy AI to find asthma targets

pharmaphorum

The three-year project – led by respiratory medicine expert Dr Timothy Hinks from the Oxford University Respiratory Medicine Unit – will use whole-genome sequencing of around 500 patients with severe asthma, comparing their gene sequences with control subjects who don’t have asthma.