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New approach to diagnosing genetic diseases using RNA sequencing increases yield

Scienmag

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.

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Sensyne, Oxford University deploy AI to find asthma targets

pharmaphorum

The three-year project – led by respiratory medicine expert Dr Timothy Hinks from the Oxford University Respiratory Medicine Unit – will use whole-genome sequencing of around 500 patients with severe asthma, comparing their gene sequences with control subjects who don’t have asthma. Dr Timothy Hinks.

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The Utility of Liquid Biopsy in Oncology Clinical Trials

XTalks

These tumor-derived entities are used to derive genomic and proteomic data. Dr. Bahassi explained that technological advances in genetic sequencing of cfDNA have enabled liquid biopsies and led to marked increase in the detection of therapeutically-targetable mutations. Optimal methods for bioinformatic analysis are still needed.

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Top 10 Fastest Growing Biotech Companies in 2023

XTalks

Related: Top 30 Pharma Companies in 2023: Statistics and Trends 1) Moderna Compound annual growth rate: 415 percent Moderna, headquartered in Massachusetts, is a prominent biotechnology company specializing in RNA therapeutics, particularly mRNA vaccines.

Genetics 111
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Big data – charting a new path to drug discovery and development

Drug Discovery World

Now, with the growth of publicly available genomics, transcriptomics, and proteomics databases, the ability to quickly carry out large-scale DNA, RNA, and protein screenings, and the availability of massive sets of de-identified patient data, the amount of high-value, analysable data has reached enormous proportions.

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The use-case for NGS

Drug Discovery World

DDW Editor Reece Armstrong speaks to Dr Darrell Green , Lecturer in RNA Biology Biomedical Research Centre Norwich Medical School University of East Anglia, about his work using next generation sequencing (NGS) and the areas the technology is impacting within drug discovery and development. The second concept is largely in oncology.

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The microbiome in precision medicine

Drug Discovery World

With 100-fold the number of genes in the human genome 1 , this microbial collection is a rich genetic signature of clinical significance that we have only recently gained the tools to explore. Collectively, these systems biology bioinformatic puzzles often require partnerships to solve.