Novel technique may pinpoint genetic causes of human diseases faster

London, September 17: Scientists in the US have devised a powerful, novel technique to pinpoint genetic causes of human diseases faster than ever.

The discovery is a result of the efforts put in by an international team of researchers at the Southwest Foundation for Biomedical Research (SFBR), a large private research institute locate in San Antonio Texas.

The new method works by first isolating self-regulated genes, which harbour variations that affect their own output. Thereafter, the researchers rapidly narrow in on genes that likely have a causal effect on a particular disease or disease trait.

According to the investigators, this approach makes it possible for researchers to quickly sift through the 25,000 genes in the human genome, and see which ones should be the focus of follow-up investigations.

“We basically just zeroed in on the low hanging fruit,” Nature magazine quoted John Blangero of SFBR, who directed the study, as saying.

“Instead of looking at all of the genes, we focused on the ones that strongly control their own outputs, and of those genes we then looked at the ones that correlate with disease risks. This approach narrows down the field of genes to target very quickly,” he added. .

The researchers have revealed that this method helped them identify a gene called VNN1, which regulates HDL (good cholesterol). They say that this finding has major implications for heart disease.

“While this has been done before on a very limited scale, the sheer power of our AT&T Genomics Computing Center, plus multiple generations of genetic data we have accumulated in the San Antonio Family Heart Study, allowed us to apply this method to a much larger number of study samples. No one has ever applied this method on an epidemiological scale before,” Blangero said.

The researchers are following up with analyses of 60 other genes that appear related to HDL cholesterol. Besides searching other factors related heart disease, they are applying the method towards gene discovery for diabetes, obesity, and rare genetic disorder cystinosis also.

So far, the researchers have found approximately 100 genes that appear related to diabetes.

“Although in this paper we show how we used the method to find a gene with a big influence on HDL cholesterol, we’ve begun applying this same approach to every disease that we work on and have obtained outstanding results. It’s the biggest speed-up in discovery that we’ve ever experienced,” said Harald Göring, an SFBR geneticist who is the lead author on the paper.

The researchers say that the output of genes that exhibit major control of their own outputs, known as “cis-regulated” genes, is primarily affected by DNA variations with the genes themselves. They believe if a cis-regulated gene is found to be correlated with a disease trait, there is a greater likelihood of quickly identifying genetic variations that play a causative role.

“This paper represents a proof of principle for a rapid approach to discover genes directly involved in disease. The ability to pinpoint the cis-regulated genes not only speeds up the discovery process, but means that you immediately have a good target for drugs to treat those diseases that they influence,” Blangero said. (With Inputs from ANI)

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