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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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Patients of African heritage have fewer actionable mutations

Drug Discovery World

Genomic profiling of patients who were treated for colorectal cancer showed that patients with African ancestry had fewer actionable mutations than patients with European ancestry. However, the extent to which differences in germline or somatic genomic alterations influence outcomes remains unknown.”

Genome 52
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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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Boost for mRNA as Moderna to acquire OriCiro for $85 million

pharmaphorum

and OriCiro Genomics K.K. The data was from their phase 2b trial of a personalised vaccine consisting of 34 mRNAs, each targeting mutations – identified by gene sequencing – thought to be driving a patient’s cancer. Biotech Moderna, Inc. The deal marks 10-year-old Moderna’s first acquisition.

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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.