Remove Containment Remove Genetic Disease Remove Genome
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Why early participant engagement is now a top priority in genetic disease research

pharmaphorum

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Why should research be any different?

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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.

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Searching for answers in rare epilepsy

pharmaphorum

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genomics 102
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Epigenetic Editing with CRISPR Might Be Easier Than We Thought

XTalks

The tool could also prove to be safer than conventional CRISPR-based gene therapies as it does not involve DNA editing, and thus would not cause potentially harmful off-target genomic changes. Epigenetic Editing with CRISPR. DNA methylation occurs endogenously in all mammalian cells in response to various stimuli. pyogenes dCas9.

DNA 98
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Searching for answers in rare epilepsy

pharmaphorum

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

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HFpEF vs. HFrEF: How To Improve Heart Failure Drug Development

XTalks

New advances in heart failure genomics are helping to address this challenge. Experts from Servier and Genuity Science recently spoke on a webinar about using genomics data to drive drug development in heart failure and identify new targets for novel therapeutics. Watch this on-demand webinar to hear from these experts.

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Using CRISPR to Edit the Epigenome Might Be Easier Than We Thought

XTalks

The tool could also prove to be safer than conventional CRISPR-based gene therapies as it does not involve DNA editing, and thus would not cause potentially harmful off-target genomic changes. Epigenome Editing with CRISPR. DNA methylation occurs endogenously in all mammalian cells in response to various stimuli. pyogenes dCas9.

DNA 52