NEW GENOME MAP WILL HELP TRACE GENETIC ORIGINS OF DISEASES 

Scientists in Toronto have a taken a huge step forward in the quest to discover the origins of heart disease, diabetes, Alzheimer's and different types of cancer.

Dr. Stephen Scherer, a senior scientist at SickKids, helped to discover the fact that large segments of gene-sized DNA can be present in different copy numbers in all individuals.

A consortium of scientists led by The Hospital for Sick Children (SickKids) and institutions in the U.S., the U.K. and Japan has created the first map of DNA and gene copy number variation (CNVs) in the human genome.  The discovery of about 2900 genetic variations could help scientists explain everything from the uniqueness of each human to why disease develops.

"These new results define an emerging discipline in genome research with broad ranging impact in pharmacology, forensics, clinical diagnostics, and even the basic sociology of what makes us human," said Dr. Martin Godbout, President & CEO of Genome Canada.

The consortium used genome-scanning experiments to assess DNA samples from 270 people from around the world. The "map" is now available to researchers in 20,000 labs from a database housed at the Centre for Applied Genomics in Toronto. It provides critical information for further studies to understand human evolution and disease. 

"Our latest studies describe that thousands of chunks of DNA, sometimes encompassing millions of nucleotides, can vary between individuals," said Dr. Stephen Scherer, a senior scientist in genetics and genomic biology at SickKids.  "Most surprising was that some 2900 genes, or 10 per cent of all of those known, varied from their normal copy number of two, pointing to possible new explanations for individual uniqueness, as well as why disease develops."

The research was funded by the Ontario Ministry of Research and Innovation, Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research, the McLaughlin Centre for Molecular Medicine, the Canada Foundation of Innovation, the SickKids Foundation, Ontario Innovation Trust, and several other national and international agencies.