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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. The post Scenic Bio raises $31m for genetic modifier platform appeared first on.

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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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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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Deep-learning filter improves precision of cell mutation detection, accuracy of cancer diagnoses

Medical Xpress

Next-generation cancer strategies rely on next-generation gene sequencing (NGS), which paves the way for new techniques and tools to detect mutations and determine patient therapy.

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Researchers identify genes that may increase schizophrenia risk

Drug Discovery World

The investigators found the two risk genes, SRRM2 and AKAP11, by comparing the gene sequences of people with schizophrenia to those of healthy controls. Next, the researchers plan to assess whether and how these genes may have a clinical role and to identify drugs that might target the genes in the study.

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