BioPharma Reporter

JULY 11, 2023

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.

Gene Sequencing 63

Gene Sequencing Gene Genetics Genome 63

pharmaphorum

NOVEMBER 3, 2020

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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Gene Sequencing Gene Genome Genomics 114

Drug Discovery World

DECEMBER 13, 2022

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. .

Genetics 52

Genetics Research Genome Genomics 52

XTalks

DECEMBER 14, 2022

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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Gene Editing DNA Gene Gene Sequencing 98

Drug Discovery World

APRIL 17, 2023

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

Genome Genomics Gene Sequencing Genome Project 52

Drug Discovery World

MARCH 20, 2023

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

Gene Research Genetics Gene Sequencing 52

pharmaphorum

JUNE 23, 2022

The deal comes a year after Intellia and partner Regeneron reported promising results from the first clinical trial of a drug used to edit the genomes of cells within the body, in patients with rare disease ATTR amyloidosis. billion in potential milestones if the project advances through development and onto the market.

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Gene Editing In-Vivo Gene Sequencing Gene 93