New Regulatory Regions May Advance Genomics-Driven Medicine


The results of a new study show a new view of genetic regulation by uncovering how genes and disease are related.

Pinpointing new regulatory regions that control disease-linked genes can help move genomics-driven precision medicine forward and could help show which treatments would be most beneficial to specific individuals, according to the results of a new study.

“In this study, we have provided an entirely new view of genetic regulation by uncovering an in-depth picture of how genes and disease are linked. It is the most comprehensive analysis of how human genetic variation affects gene expression to date,” Joseph Powell, director of the Garvan-Weizmann Centre for Cellular Genomics and deputy director of the UNSW Cellular Genomics Futures Institute, said in a statement.

The study results, co-led by the Garvan Institute of Medical Research, showed that by uncovering these new regulatory regions in the human genome, known as expression quantitative trait loci (eQTLs), investigators can better understand which genes directly contribute to disease risk and which are more likely to respond to precision treatment.

“Thanks to the statistical power of this large dataset, we were able to uncover new regulatory regions on the human genome,” Powell said. “Instead of just cataloguing the regulatory gene locations that were adjacent (known as cis-eQTLs), we were able to reveal genes that modulated the activity of more distant genes (known as trans-eQTLs).”

The findings show that 88% had a cis-eQTL effect and 32% had a trans-eQTL further away in the genome, more than half of which investigators could identify to a biological impact, such as cardiovascular or immune diseases.


New resource to advance genomics-driven precision medicine. ScienceDaily. News release. September 2, 2021. Accessed September 7, 2021.

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