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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. Unlike with many similar conditions, a child will develop normally until the seizures start to kick in,” said Allison.

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

pharmaphorum

billion in potential milestones if the project advances through development and onto the market. 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.

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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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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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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.

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Oxford Nanopore makes stellar debut on UK stock market

pharmaphorum

It has made Oxford Nanopore’s chief executive and cofounder Gordon Sanghera an on-paper fortune of £63 million, while another cofounder – chief business development officer Spike Willcocks – is now worth £30 million. Chief technology officer Clive Brown is also sitting on a £10 million stake.