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Genome-wide analysis technologies enabled the exploration of a whole new universe of DNA sequence variations that contribute to the development and progression of common, complex diseases. While genome-wide approaches have been highly productive, a significant challenge remains after more than a decade of hypothesis-free genomics research – the combined effect of DNA sequence variation in many complex diseases often explains only a fraction of the clinical pathology. Additional studies are needed to create tools to assess disease risk and tailor treatment, identify novel targets for drug development, or streamline clinical trials. So, how do we best go about further disentangling complex biology? 

In a recent issue of Clinical and Translational Science, Drs. Sá, Sadee, and Johnson review some recent advances in the field of transcriptomics. Transcriptomic profiling using RNA-Seq, a technique that was first applied in the late 2000’s, provides a quantitative assessment of the overall gene expression landscape. Because of this technology’s ability to interrogate transcripts that have more extreme expression levels or arise from alternative splicing, RNA-Seq methods are a major improvement over array-based methods and seeing much broader application in gene expression studies. As Sá et al. point out, transcriptomic studies have produced intriguing findings in the field of oncology; some insights have also been made in heart failure, obesity, and hypertension and other diseases with complex etiologies. Transcriptomic profiling may also prove useful in studying pharmacodynamics and mechanisms of benefit or toxicity. Together, these efforts could open the door to new biomarkers that can identify the right treatments for the right patients. 

For experienced scientists looking to adopt a new technology, or young scientists who are just getting up to speed, it helps to have a compass. CTS tutorials offer a great way to get informed and catch up on the latest and greatest scientific approaches in the form of concise, contemporary, and informative reviews that touch on the merits and limitations of new technologies. If you have any ideas for tutorials, please let us know or post a comment!


Disclaimer: This publication reflects the views of the author and should not be construed to represent FDA’s views or policies.

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