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Transcriptional Gene Signatures and the Extinction of Disease

Updated: Aug 22, 2018

By Loret Haas-Hanser

In a utopian society, the prospect of disease has been eliminated. Millions of lives are stolen by disease every year, three million of which could be avoided through vaccines. Although some are preventable, contracting a disease can be random and has the potential to obliterate life as a whole. Fortunately, research and studies throughout the past few decades have illuminated hope for curing or immunizing against some diseases. As uplifting and promising as that may sound, it is an incredibly overbearing process that begins with searching for any possible insight within a diagnosis.

In April of 2018, Julie Burel and Bjoern Peters analyzed optimal criteria to design a process in which diseases could be stopped in their tracks as soon as they are diagnosed. Transcriptional signatures, or gene signatures, are combined groups of genes that code for a unique gene expression. Some gene expressions may prove to be disease-specific, and could then give scientists a formula for vaccinating, curing, or treating diseases. Burel and Peters studied prognostic and predictive gene signatures in relation to the development and diagnosis of tuberculosis (Mycobacterium tuberculosis). Tuberculosis is a highly infectious bacterial disease that impacts the lungs, and it can be extremely serious. Prognostic and predictive transcriptional signatures in relation to tuberculosis focus on the outcome, course, and predictive biomarker of the tuberculosis-specific genomic sequence.

Art by Olivia Baccellieri

In other diseases such as HIV, there is a fairly legitimate prognosis involving receptors interacting with the human genome through transcription and integration of a specified gene. Peters and Barrel have been attempting to analyze transcriptional disease signatures by implementing three main steps: collecting data from patients infected with latent and active tuberculosis, analyzing gene patterns, and analyzing and comparing data. By evaluating individuals impacted by tuberculosis and cross-listing those collected data with unaffected individuals, some interesting findings have come to light. The first significant finding is a three gene signature and a connection to a BATF2 (protein coding) gene. Most interestingly, though, a 16-gene signature was found that was able to predict the risk of tuberculosis changing from the latent form to the active form in infected individuals. Similar gene transcriptions are found in sarcoidosis, an autoimmune disease that impacts the collection of inflammatory cells in lymph nodes.

Studying gene transcriptions and the relationship between active disease and gene expression is a revolutionary field of study in modern science. Antivirals, immunizations, beta-blockers and other forms of disease-targeting medications have saved thousands of lives. However, people across the globe are still being haunted by the prospect of morbidity. Studying how diseases form and impact the human body before dangerous signs of infection could trigger major breakthroughs in modern medicine. Analyzing gene transcriptions makes diagnosis easier and faster, and therefore could be use to track, control and eventually eliminate a disease. We are lucky to have the ability and technology that make such revolutionary ideas as the eradication of disease a future possibility.


Burel, J. G., & Peters, B. (2018). Discovering transcriptional signatures of disease for diagnosis versus mechanism. Nature reviews: Immunology.

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