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

pharmaphorum

Takeda has forged another alliance as it continues a push into gene therapy, agreeing a deal worth up to $2 billion with Code Biotherapeutics for opt-in rights to four candidates for rare diseases. The post Takeda grows in gene therapies again with $2bn Code Bio deal appeared first on. Last October it signed a $3.6 billion-plus.

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Gene therapy specialist bluebird exits “untenable” European market

pharmaphorum

Europe market has proved so hostile to gene therapies when it comes to pricing and reimbursement for gene therapies that bluebird bio has decided to quit the market altogether, according to Andrew Obenshain, president of its severe genetic diseases unit. market and will wind down in Europe.

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Researchers investigate genetic variants linked to paediatric diseases 

Drug Discovery World

Boston Children’s Hospital researchers will use HiFi whole-genome sequencing (HiFi WGS) for the purpose of investigating genetic and epigenetic variants associated with rare paediatric diseases. The study will also explore epigenetic variation using the ability of HiFi WGS to measure DNA methylation in every sequencing run. .

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

Roots Analysis

Further, NGS library preparation kits offer several benefits, such as low requirement of starting material, generation of longer RNA / DNA sequences and production of superior quality nucleotide libraries, thereby, catering to existing unmet needs of the research domain. Next Generation Sequencing (NGS) Library Preparation Kits.

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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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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.

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