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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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Scenic Bio raises $31m for genetic modifier platform

pharmaphorum

18 months after signing its first partnering deal with Genentech, Scenic Biotech has raised $31 million in first-round financing that it will use to take its own genetic modifier-targeted medicines into clinical trials. Scenic has developed a series of small-molecule drugs targeting QPTCL that block the expression of CD47 on cancer cells.

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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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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. .

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Vertex eyes controllable genetic drugs with $1.3bn Obsidian alliance

pharmaphorum

billion in milestone payments in the deal, which will focus on using small-molecule compounds to “fine tune” the effects of genetic medicines in the body. The approach relies on the use of drug responsive domains (DRDs) on the gene-editing medicine, which can be used to either increase or decrease protein expression.

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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. Systemic administration of gene-editing drugs would avoid that process with an “off-the-shelf” option for a one-shot, potentially curative treatment for diseases associated with genetic mutations.

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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. The post Next Generation Sequencing (NGS) Library Preparation Kits: Revolutionizing the Field of Genetic Sciences appeared first on Blog.