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Researcher develop new tool to interpret human genome to cure diseases


In a breakthrough, scientists have discovered a new method to read and interpret the human genome. The development of new technology will enable scientists to create several new drugs to treat many genetic diseases.

Named as the TargetFinder, the computer-based technology can identify the interacting sites of non-coding DNA with genes. It will help researchers connect mutations in the so-called genomic ‘dark matter’ with the genes they affect, potentially showing new therapeutic targets for genetic disorders.

Non-coding DNA do not code for proteins. It is also known as enhancers as it instructs the gene where and when it should be turned on. Enhancers are the instruction manual for the gene and a gene and its enhancers can only be separated from each other by a long chain of DNA consisting of many other genes.

“Most genetic mutations that are associated with disease occur in enhancers, making them an incredibly important area of study,” said Katherine Pollard, a senior investigator at the Gladstone Institutes. “Before now, we struggled to understand how enhancers find the distant genes they act upon,” said Pollard.

Previous study suggested that enhancers only influenced the adjacent or nearest genes present to them. However, after developing the new technology, researchers found that enhancers have very long range and can impact genes located several million letters away meanwhile skipping all the genes present in the path.

Researchers explained that enhancers form a bow-shaped three-dimensional loop with a gene located millions of letters away, this way enhancers instruct the gene.

Study authors took the help of the computer to view the presence of the three-dimensional structure. For the study, scientists read over hundreds of existing datasets from six different cell types to look for patterns in the genome that identify where a gene and enhancer interact.

The breakthrough technology is much cheaper and takes much lesser time to identify how gene and enhancers present in the genome interact. It will help researchers in making medicines to treat several genetic diseases.

The study appeared in the journal Nature Genetics.


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