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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

Developed by MIT researchers Jonathan Gootenberg and Omar Abudayyeh, PASTE (Programmable Addition via Site-specific Targeting Elements) gene editing technology can insert genes as long as 36,000 DNA base pairs to liver cells in mice as well as several types of human cells.

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

Roots Analysis

Over the past few years, several companies have started offering a diverse range of genome sequencing products and services using various second and third generation sequencing technologies. Our Social Media Platform. Web: [link]. LinkedIn: [link]. Twitter: [link].

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A Reversal on Sequencing? Proposed Legislation Would Allow Patenting of Naturally Occurring Genes

FDA Law Blog

Rather, developers of diagnostic tests and, indeed of any product that relies on free access to gene sequence and other biomarker information, should pay also close attention, as PERA would overturn longstanding judicial precedent. By 2010, about 2000 isolated human genes had been patented in the U.S.

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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. Concluding Remarks.