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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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Why genomic healthcare data matters in the development of new therapies 

Drug Discovery World

From a general healthcare perspective, access to this sort of data is invaluable, but this is particularly noteworthy in that DNA tests have historically been limited in these regions on account of cost and availability of practitioners, services and resources.

Genome 98
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A new dawn of the genomic age: five areas set to be transformed in 2023

pharmaphorum

In March, the collaborative T2T consortium published the first complete telomere-to-telomere sequence of the human genome, filling in the last 8% of the 3 billion base pairs that make up our DNA. Moreover, research has shown that genetic testing can reduce adverse reactions to drugs by nearly one third.

Genome 127
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Q&A: Gene therapy opportunities from long-read sequencing 

Drug Discovery World

Breakthroughs in gene therapy are only possible with an exact understanding of the genetic underpinnings of disease. Visualising the whole genome is especially useful when sequencing new organisms, or stretches of DNA with many repeats or translocations, which are difficult to see from short sections of DNA code.

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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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Research Roundup: Blood Test for Severe COVID-19 and More

The Pharma Data

The test valuates mitochondrial DNA levels. When mitochondrial DNA, normally found inside cells, in the mitochondria, spills into the bloodstream, it signals that a particular type of violent cell death is occurring. They measured the patients’ mitochondrial DNA levels on the first day of their hospital stays.