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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?

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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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Researchers identify genes that may increase schizophrenia risk

Drug Discovery World

Researchers have identified two previously unknown genes linked to schizophrenia and newly implicated a third gene as carrying risk for both schizophrenia and autism. The investigators found the two risk genes, SRRM2 and AKAP11, by comparing the gene sequences of people with schizophrenia to those of healthy controls.

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

pharmaphorum

Novartis has shouldered its way into the in vivo gene editing category via a deal with US biotech Precision BioSciences, focused on a therapy for sickle cell disease (SCD). Precision Bio aims to address those challenges using its proprietary ARCUS nuclease platform, which is designed to insert a transgene with high accuracy into the genome.

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Researchers investigate genetic variants linked to paediatric diseases 

Drug Discovery World

PacBio, developer of sequencing solutions, has announced its HiFi sequencing technology will be used in a pilot project for the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital. . As causative variants are identified by CRDC researchers, results are returned to participants.

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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

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and OriCiro Genomics K.K. He continued: “OriCiro’s technology strategically complements our manufacturing expertise and further accelerates our research and development engine.”. Biotech Moderna, Inc. have announced they have entered into a definitive agreement for Moderna to acquire OriCiro at a cost of $85 million.