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

XTalks

Expanding upon the CRISPR-Cas9 gene editing system, researchers at MIT have designed a new technique called PASTE gene editing that can cut out defective genes and replace them with new genes in a safer and more efficient way. The PASTE gene editing technique was recently published in Nature Biotechnology.

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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.

Gene 52
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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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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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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