Faculty of Medicine and BC Cancer Agency scientists are playing a major role in an international effort to understand how the trillions of cells in the human body develop from a single genetic template, and how those genes interact with the environment.
By mapping the epigenome (a series of unique chemical compounds inside each cell type that tell the genome what to do), researchers hope to understand how genes are switched on and off in different cell types in response to different environmental and chemical signals, with important implications for understanding normal human development and diseases such as cancer. This effort is as big if not bigger than the Human Genome Project.
Connie Eaves
Two UBC-BCCA studies have been included in a set of 41 coordinated papers published this month by the International Human Epigenome Research Consortium (IHEC).
Connie Eaves, a Professor in UBC’s Department of Medical Genetics and a Distinguished Scientist at the BC Cancer Agency, and Martin Hirst, a Professor in the Faculty of Science, published in Cell Reports the first epigenetic profiles of normal cell types in human breast tissue. This information will help scientists understand how normal mammary glands develop and will serve as a comparator for diseased tissues.
A team led by Marco Marra, Professor and Head of the Department of Medical Genetics and a Distinguished Scientist at the BC Cancer Agency, used similar methods to identify epigenetic changes that are thought to contribute to the development of a rare childhood cancer called malignant rhabdoid tumour. This study was published in Cancer Cell earlier this year and is highlighted in the IHEC release as one of the 41 ground-breaking epigenomics papers.
Marco Marra
“While the data and analysis represent significant advancements in their own right, the findings are much more significant when integrated within a global effort to understand the role of epigenetics in complex human disease,” Dr. Hirst said.
Unlike the genome, the epigenome changes as cells develop and in response to changes in the environment. Defects in the factors that read, write and erase the epigenetic blueprint are involved in many diseases. The comprehensive analysis of the epigenomes of healthy and abnormal cells will facilitate new ways to diagnose and treat various diseases.
The Canadian contribution to the project is coordinated through the Canadian Epigenetics, Environment and Health Research Consortium Network (CEEHRC), which is funded by the Canadian Institutes of Health Research, Canada Foundation for Innovation, Genome Canada and Genome BC.