Researchers Reveal Key Findings in Genomics Road Map to Disease Origins

Researchers Reveal Key Findings in Genomics Road Map to Disease Origins

Genomics scientists now have more knowledge than ever about the biological and genetic basis of diseases such as rheumatoid arthritis, and to identifying new targeted therapies. Three computational biology teams from the Vanderbilt University, University of Pennsylvania, and University of Arizona Health Sciences (UAHS) discovered a method that demonstrated independent DNA variants associated to a disease share similar biological features.

The paper, “Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions,” is published in the journal Genomic Medicine.

“The discovery of these shared properties offer the opportunity to broaden our understanding of the biological basis of disease and identify new therapeutic targets,” said Yves A. Lussier, MD, FACMI, lead and senior corresponding author of the study and UAHS associate vice president for health sciences and director of the UAHS Center for Biomedical Informatics and Biostatistics (CB2), said in a recent news release.

Scientists have been working to understand the common biological and genetic basis that make certain individuals more prone to develop the same disease. In their study the team developed a method that demonstrates how individual DNA variants associated with disease share identical biological characteristics, which provide a path for disease foundation.

Researchers demonstrated that DNA risk variants can affect the cellular machinery and gene expression, biological behaviors that provide a better understanding of disease biology.

When DNA risk variants for a given disease were analyzed in combination, similar biological activities were revealed, suggesting that specific risk variants can affect the same or shared biological functions, as a result causing the same disease.

When the team analyzed DNA risk variants associated to Alzheimer’s disease, bladder cancer, and rheumatoid arthritis, they found that two DNA risk variants can independently lead to disease, but also interrelate genetically. Consequently, the exact combination of DNA variants of a patient might decrease or increase their relative risk of developing a certain disease.

The team is also developing novel methods to uncover the biological occurrence of “long-time overlooked” DNA variants to more accurately determine clinical choices and employ therapies tailored to a patient’s biological and genetic background.

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