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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 Proviral DNA Drug Resistance Testing is Useful in Guiding Treatment Decisions for HIV-1 Patients

XTalks

Proviral DNA Genotyping. Moreover, drug-resistant virus in proviral DNA could lead to viral rebound if latently infected cells containing drug-resistant proviral DNA become activated. In other words, what is the concordance between proviral resistance results and the historical archive by traditional virus genotyping?

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BridgeBio Pharma’s Nulibry Approved as First Treatment for Molybdenum Cofactor Deficiency Type A

XTalks

Molybdopterins are a class of cofactors found in most molybdenum-containing and all tungsten-containing enzymes. In the analysis involving 31 patients, 13 were treated with Nulibry and compared to 18 genotype-matched untreated patients from the history control group.

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

XTalks

We’re also seeing longer times for the interpretation of the test data, since even experienced scientists cannot be an expert on every gene they encounter. We also offer interpretation and reporting services delivered by our in-house team of clinical scientists working in the UK.

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Biorepositories as a Guiding Resource for Research & Drug Discovery

XTalks

Through these collaborations, cohort research dataset sharing programs allow for whole-genome sequence and genotype data to be made available for independent research. Dr. Samantha Hutten, staff scientist at the Michael J. Genotype Data Curation and Return of Results. Sample Collection Standardization. Sawcer says.

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Nutrigenomics: The Future of Personalized Nutrition

Roots Analysis

For example, people affected by phenylketonuria must avoid consuming food containing phenylalanine amino acid. Challenges Associated with Nutrigenomics Although scientists have conducted extensive research on interaction of genes and nutrition, the science of nutrigenomics is still in its infancy stage.