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VCU technology could upend DNA sequencing for diagnosing certain DNA mutations

Scienmag

Credit: John Wallace, VCU Massey Cancer Center Doctors are increasingly using genetic signatures to diagnose diseases and determine the best course of care, but using DNA sequencing and other techniques to detect genomic rearrangements remains costly or limited in capabilities.

DNA 52
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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. Context .

Genome 52
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$8 million awarded to landmark genetic research project

Drug Discovery World

Landmark genetic research could allow doctors to accurately predict whether a patient is at risk of developing common diseases, decades before any symptoms would become evident. He’s going to accelerate personalised medicine based on an individual’s genome.

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Gene editing: beyond the hype

pharmaphorum

Genome editing is an exciting but still nascent field, and companies in the area face as many obstacles as they do opportunities. ZFPs can be engineered to make zinc finger nucleases, or ZFNs, which are proteins that can be used to edit genomes by knocking select genes in or out to specifically modify DNA sequences.

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Comment: LSX World Congress 2023 

Drug Discovery World

Meet the biotech: Enhanc3D Genomics Enhanc3D Genomics was spun out from the laboratories of Dr Stefan Schoenfelder and Professor Peter Fraser, who pioneered research into the dynamic spatial organisation of the genome at the Babraham Institute in Cambridge, UK.

Genome 52
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Genetic biomarkers could personalise therapy for TNBC

Drug Discovery World

Additionally, patients whose cancer has spread but who have not yet received chemotherapy, and whose primary tumours have markers of faults in genes linked to DNA repair pathways, tend to respond better to carboplatin. “Our findings paint a complex picture – with many, dynamic factors driving how tumours respond to treatment.”

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Ring 20: Could the rare disease get left behind by next-generation gene sequencing?

pharmaphorum

There are no clinical practice guidelines, meaning doctors treat on a case-by-case basis. Another, apparently contradictory, point is that the number of ring 20 diagnoses have actually declined with advances in genome sequencing, which cannot detect the presence of ring chromosomes.