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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. This approach contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings. The study was published in the American Journal of Human Genetics.

Genome 75
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10 Key Learnings from Successful Cellular and Gene Therapy Trials for Rare Diseases

XTalks

Awareness of rare diseases is growing, and with a better understanding of the pathophysiology of many rare diseases, innovative treatment options are emerging, like gene therapies that can treat the root cause of rare genetic diseases and potentially provide long-term symptom relief, or even a definitive cure.

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

pharmaphorum

The cost of testing per human genome in 2006 was approximately $14 million , and in less than two decades, an average consumer-purchased genetic test costs $100. The same is becoming true for the healthcare industry, and one of the first major breakthroughs in the area was the 100,000 Genomes Project.

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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 88
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Rare Disease Diagnosis: Why Tackling the Genomic Analysis Bottleneck is Key to Advancing Precision Medicine

XTalks

For more information on tackling this “genomic analysis bottleneck,” watch this on-demand webinar. How many genes need to be scanned in order to determine the presence of a genetic disease? It also slows the progress of identifying new disease gene associations in very rare conditions.

Genome 98