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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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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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Why Trusted Research Environments are key to the future of genomics  

Drug Discovery World

Genomics is driving a revolution in drug development and, in the long run, the state of public healthcare. Advances in sequencing are leading to scientific breakthroughs in preventative care, faster diagnoses, and proactive medical interventions. The first draft human genome took a decade to create, and 13 years to complete.

Genome 52
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New CRISPR-Based Tool Called PASTE Gene Editing Inserts Large DNA Sequences at Desired Sites

XTalks

Developed by MIT researchers Jonathan Gootenberg and Omar Abudayyeh, PASTE (Programmable Addition via Site-specific Targeting Elements) gene editing technology can insert genes as long as 36,000 DNA base pairs to liver cells in mice as well as several types of human cells.

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Patients of African heritage have fewer actionable mutations

Drug Discovery World

Genomic profiling of patients who were treated for colorectal cancer showed that patients with African ancestry had fewer actionable mutations than patients with European ancestry. However, the extent to which differences in germline or somatic genomic alterations influence outcomes remains unknown.”

Genome 52
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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.

Gene 52