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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. Giving participants something in return.

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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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Study reveals first genetic links in ME and Chronic Fatigue Syndrome

Drug Discovery World

A new study has provided the first detailed genetic insights into the pathophysiological mechanisms underpinning Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). . The results were presented at the ME Genetics Research Summit organised by ME charity, Action for ME and the MRC Human Genetics Unit, University of Edinburgh. .

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Estonia National Biobank to sequence 10,000 whole genomes 

Drug Discovery World

The data are expected to drive a new level of understanding about the genetics of cardiovascular disease, mental, reproductive and female health, cancer and rare diseases, and treatment outcomes. To date, the samples for the Biobank have been genotyped using microarray-based methods.

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Biorepositories as a Guiding Resource for Research & Drug Discovery

XTalks

Biobanks are used for the coordination of high-yield patient sample collection. Moreover, biobanks are no longer passive biorepositories for accrual of samples and serve a more utilitarian function in identifying and coordinating specific research cohorts for longitudinal and prospective studies. Biobanking Models.

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How biomarkers can help discover new treatments for women’s health

Drug Discovery World

RA: You’ve recently announced a collaboration with the University of Oxford to access genotype data on women with endometriosis. We previously conducted a hypothesis-free study using genotype data from the UK Biobank, which resulted in the first mechanism-based stratification of endometriosis patients.

Genome 72
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HFpEF vs. HFrEF: How To Improve Heart Failure Drug Development

XTalks

A 2015 study published in Nature Genetics found that the availability of human genetic data made investigational drugs twice as likely to pass pivotal trials and eventually be approved. Figure 1: The use of Mendelian randomization to validate genetic drug targets.