Tuesday, November 22, 2016

Researchers identify missing links that connect human DNA variation with disease

In a study conducted by a team of Cambridge researchers, led by scientists at theBabraham Institute, new knowledge was discovered related to missing links in the DNA sequence that occur in areas where a multitude of diseases are found. Researchers were able to chart interactions between genes and sequences far away from the specific DNA thread. Using the Promoter Capture Hi-C technique, parts of the genome that physically contact and regulate genes were able to be identified. This enabled the team to discover hundreds of thousands of regions that are necessary to switch genes on and off, the tiny changes what make all the difference when it comes to disease.

A specific experiment was conducted which featured the mapping of regions of the genome that interact with genes in 17 different blood cell types. Researchers were able to compose an atlas of contacts between genes and the remote regions that regulate them in each cell type, which they then matched with known changes in DNA at these regions that are linked to specific diseases. This is significant because they were able to know which genes are affected by the DNA changes, thus uncovering their roles in the disease.

This study is groundbreaking because it did not just identify a new pathway in which a disease occurs, but instead it increased understanding of how the human genome works so that scientists can make the biological sense of things that can be used to tackle a wide array of diseases. The research team was able to find thousands of new genes linked to specific diseased including: rheumatoid arthritis, type 1 diabetes, and Crohn’s disease. New knowledge would enable new drugs to be designed to target those genes.


It is really remarkable what this team has done. They made sense of diseases biologically so that the specific genes can be analyzed more efficiently and better gene interaction predictions can be made. Even better, the research affects many many people because it is so applicable to so many diseases. I am excited to see the new discoveries and pharmaceutical advances that will be made possible because of the hard work of the Cambridge and Babraham Institute team.

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