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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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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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Hopkins-led research team takes gene mutation detection in blood to the next level

Scienmag

Credit: Elizabeth Cooke Next-generation gene sequencing (NGS) technologies –in which millions of DNA molecules are simultaneously but individually analyzed– theoretically provides researchers and clinicians the ability to noninvasively identify mutations in the blood stream.

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#news #biotech Research team develops software that cuts time, cost from gene sequencing

BioTech 365

Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Research team develops software that cuts time, cost from gene sequencing.A

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

pharmaphorum

Interest in non-viral methods of delivering gene therapies has been growing in the face of current scrutiny of the safety of viral vectors like adeno-associated viruses (AAV), with a number of clinical programmes based on AAV under clinical holds imposed by the FDA.

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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. Advancement in DNA sequencing technologies have resulted in noteworthy developments in various healthcare-related research fields, such as diagnostics and personalized medicine.

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UK cancer mutation testing firm Biofidelity raises $12m

pharmaphorum

Cambridge, UK-based Biofidelity has raised $12 million in first-round funding for its cancer diagnosis platform, which can detect mutations quicker than current approaches like gene sequencing. Both previously worked at Cambridge-based DNA sequencing specialist Base4 Innovation, where the technology was developed.

DNA 59