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Researchers investigate genetic variants linked to paediatric diseases 

Drug Discovery World

PacBio, developer of sequencing solutions, has announced its HiFi sequencing technology will be used in a pilot project for the Children’s Rare Disease Cohorts Initiative (CRDC) at Boston Children’s Hospital. . As causative variants are identified by CRDC researchers, results are returned to participants.

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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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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. Next Generation Sequencing (NGS) Library Preparation Kits. Web: [link].

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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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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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Patients of African heritage have fewer actionable mutations

Drug Discovery World

Genetic sequencing To assess these alterations in groups of different ancestries, Walch and colleagues analysed targeted DNA sequencing data from 4,441 patients treated for colorectal cancer at MSK between 2014 and 2022. Genetic ancestry was estimated using reference populations from the 1000 Genomes Project.

Genome 52
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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.