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New approach successfully traces genomic variants back to genetic disorders

Medical Xpress

National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. The study was published in the American Journal of Human Genetics. This approach contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings.

Genome 75
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Can genetic data be a magic bullet for drug R&D?

pharmaphorum

Ben Hargreaves finds that the vast amount of genetic data that exists today could help provide a faster, more targeted way of developing new drug candidates. The logical extension to this kind of approach is treating individual patients, with their individual genetic makeup.

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10 Key Learnings from Successful Cellular and Gene Therapy Trials for Rare Diseases

XTalks

Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Eagleton recently spoke on a webinar with his colleagues from Medpace about lessons learned from successful approaches from rare disease and gene therapy product approvals.

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Endometriosis partners to discover personalised treatments

Drug Discovery World

PrecisionLife and the University of Oxford have signed a data access agreement to license the Oxford Endometriosis Gene (OXEGENE) dataset to develop new personalised treatments for endometriosis patients. Endometriosis affects 10% of women globally, but on average it takes over seven years for patients to receive a diagnosis.

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Osimertinib Resistance and EGFR Mutations in NSCLC Treatment

Bioengineer

In patients with T790M mutant NSCLC receiving osimertinib, 63% experienced loss of T790M at progression, commonly linked to histological transdifferentiation, KRAS mutations, or gene fusions. not reached) in genomic analysis of post-progression samples from patients receiving second-line osimertinib. months vs. 15.2 months, p = 0.01).

Genome 119
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How Pharmacogenomics may finally realise its promise

pharmaphorum

Pharmacogenomics, the understanding of how genes impact an individual’s response to medications, provides a potential outlet to better optimised therapies. There have been great strides made in genomics to refine tools that determine the safest, most effective course of treatments for patients across a number of disease states.

Genome 98
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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

Genome 98