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Researchers unravel health/disease map

Researchers affiliated with several organizations, including , have realized a major scientific achievement that will advance understanding of how the information in our cells is used and processed.

and , professor and , respectively, were among dozens of scientists on the pioneering project. Both SFU alumni, they are also with the Canada’s Michael Smith Genome Sciences Centre and BC Cancer Agency.

The scientists are globally celebrating their completion of 20 manuscripts that describe their generation and analysis of reference epigenome maps.

Epigenomes are chemical modifications of DNA and proteins that control the structure and activity of our genome. Ultimately, they cause our genome to stay healthy or develop diseases because they code for cellular properties that distinguish one cell type from another.

The journal Nature has issued a special publication to showcase the researchers’ collection, which contains molecular mark-up language for translating the epigenomes of 111 distinct human cell and tissue types.

“The DNA that makes up a human genome is essentially the same in every cell,” explains Jones, a co-author on the manuscript that integrates all 111 epigenomes into a single comparative analysis.

The project, called the (NIH) Roadmap Epigenomics Mapping Consortium, provides a core set of data, methodology and infrastructure for studying the epigenome’s role in human health and disease. The original goal was to map 25 normal reference epigenomes, but new technology allowed the team to produce 111 highly detailed maps on how the epigenome varies and operates in different settings.

“But different parts of our DNA are active in different types of tissue,” Jones adds. Liver and brain cells use different pieces of DNA to produce different repertoires of proteins depending on how epigenetic markers are set in each cell during embryonic development. The setting can change later in life in response to environmental cues. In fact, changes to a cell’s original epigenetic patterns have been implicated in several human diseases, including cancer and Alzheimer’s disease.”

Thanks to their several years of work, the researchers have dramatically improved the world’s ability to decipher how the book of the human genome unravels in our individual lives.

“Our work greatly expands the number of cell types for which we now have epigenomic maps, and consequently the disease states which we can now compare to normal references in those cells. We’ve also increased understanding of the range of different developmental stages of individual cell types,” explains Jones.


Simon Fraser University