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Leveraging Genetic Testing for Enrolling Rare Disease Trials

Worldwide Clinical Trials

Written By: Derek Ansel, MS, CCRA, Executive Director, Therapeutic Strategy Lead, Rare Disease Given that 80% of rare diseases have a genetic etiology, genetic implications should be addressed at the onset of a clinical program to support trial enrollment. One diagnostic example that I discussed in my presentation is autism.

Genetics 184
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Scientists expand entomological research using genome editing

Scienmag

Genome sequencing, where scientists use laboratory methods to determine a specific organism’s genetic makeup, is becoming a common practice in insect research.

Genome 82
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Researchers identify large genetic changes that contribute to dementia risk

Medical Xpress

Scientists at the National Institutes of Health have identified new genetic risk factors for two types of non-Alzheimer's dementia. These findings were published in Cell Genomics and detail how researchers identified large-scale DNA changes, known as structural variants, by analyzing thousands of DNA samples.

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Inclusive new tool makes genomic research better reflect world’s diversity

Scienmag

Scientists have developed a powerful, inclusive new tool for genomic research that boosts efforts to develop more precise treatments for many diseases by leveraging a better representation of the genetic diversity of people around the world.

Genome 84
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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. with their priorities.

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

pharmaphorum

2022 was a banner year for genomics. 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.

Genome 126
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Uncovering packaging impurities with rAAV genome sequencing

Drug Discovery World

Join DDW for this exclusive free event, ‘ rAAV genome sequencing with Oxford Nanopore uncovers transgene integrity and packaging impurities ’. The post Uncovering packaging impurities with rAAV genome sequencing appeared first on Drug Discovery World (DDW). The event will be supported by Oxford Nanopore Technologies.