To better understand why and how disease works in the human body, scientists are increasingly turning to genetics for answers. Now, a large international team has made the first detailed map of how genes work within the cells and tissues of the human body.
They have published their research in a series of papers, two of which appear in the journal Nature.
The findings, which describe the intricate networks that oversee gene activity, could help identify the main genes involved in disease.
Calling their atlas a "major advance," Prof. Winston Hide, study author from Harvard School of Public Health, says their findings will better their ability to "understand the causes of disease across the body."
The atlas is the result of years of collaboration between 250 experts from over 20 countries. They were all part of the FANTOM 5 project, which stands for Functional Annotation of the Mammalian Genome.
Led by the Japanese institution RIKEN, the goal of the project was to build a complete library of human genes.
Prof. Hide says:
"Now, for the first time, we are able to pinpoint the regions of the genome that can be active in a disease and in normal activity, whether it's in a brain cell, the skin, in blood stem cells or in hair follicles."
Ability to narrow down genes involved in disease
With the new atlas, scientists will be able to pinpoint specific genes involved in disease.
The researchers say they studied both human and mouse cells with a new technology developed at RIKEN called Cap Analysis of Gene Expression.
With this technology, they were able to discover how 95% of all human genes are switched on and off.
The switches that either turn genes on or off are called "promoters" and "enhancers," and they are the regions of our DNA that manage gene activity, the researchers note.
Overall, the team mapped the activity of 180,000 promoters and 44,000 enhancers and found that typically, they were linked with specific cell types.
Studying genes has given scientists insight into mechanisms behind a number of diseases. For example, researchers recently found the genetic cause of a rare, aggressive type of ovarian cancer.
And Medical News Today recently reported on a study that suggested there is a genetic basis for irritable bowel syndrome.
Regarding this breakthrough new atlas, Prof. Hide says:
"We now have the ability to narrow down the genes involved in particular diseases based on the tissue cell or organ in which they work. This new atlas points us to the exact locations to look for the key genetic variants that might map to a disease."
A research grant from RIKEN Omics Science Center and Innovative Cell Biology funded the FANTOM 5 project.
A recent breakthrough in the field of genetics lies in a supercomputer, which is able to produce data on 240 complete human genomes in only 2 days by processing many genomes simultaneously.