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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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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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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 MIT research team turned to a family of enzymes called integrases to meet their goal.

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Takeda grows in gene therapies again with $2bn Code Bio deal

pharmaphorum

The Japanese drugmaker will get access to Code Bio’s 3DNA non-viral genetic medicine delivery platform, initially for a liver-directed programme, and is also interested in deploying the technology for central nervous system disorders.

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Deep-learning filter improves precision of cell mutation detection, accuracy of cancer diagnoses

Medical Xpress

Next-generation cancer strategies rely on next-generation gene sequencing (NGS), which paves the way for new techniques and tools to detect mutations and determine patient therapy.

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

pharmaphorum

Systemic administration of gene-editing drugs would avoid that process with an “off-the-shelf” option for a one-shot, potentially curative treatment for diseases associated with genetic mutations. billion agreement that started in 2020.

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Next Generation Sequencing (NGS) Library Preparation Kits: Revolutionizing the Field of Genetic Sciences

Roots Analysis

NGS has emerged as an evolutionary technology in modern biotechnology and healthcare research, enabling researchers to develop a better understanding of the cause and consequences of disease. Next Generation Sequencing (NGS) Library Preparation Kits. NGS Library Preparation Kits Market. Our Social Media Platform. Web: [link].