Stephen Scherer

HSC (Human Chromo 7 Sequencing Project)

Dr. Scherer is Senior Scientist of the Department of Genetics and Genomic Biology and director of The Centre for Applied Genomics at the Hospital for Sick Children in Toronto. He is also Associate Professor of Medicine at the University of Toronto. For the past decade, he has been a leading figure in establishing genomics research in Canada. He leads a large-scale initiative to identify and functionally characterize all of the genes and diseases on human chromosome 7. His group also works on the molecular genetics of epilepsy and autism. He has published over 180 peer-reviewed papers including many in Nature, Nature Genetics, Cell, and Science. Dr. Scherer is currently a Scientist of the Canadian Institutes for Health Research and an International Scholar of the Howard Hughes Medical Institute. He was the winner of the 2003 Steacie Prize in the natural sciences.

Genomics is the discipline of studying the structure and function of an organism’s genetic material (the genome) including DNA, genes, and chromosomes. As implied by its definition, genome science is usually a large-scale undertaking being highly dependent on technology and automation. The immediate medical application of the wealth of new genomic information is the identification of genes and proteins associated with disease, the pursuit of new diagnostics, and treatments for these diseases based on the elucidated biochemical pathways. Our group has focussed to understand human chromosome 7 as a discrete organelle affecting both the inheritance and the expression of genes in health and disease. We are incorporating all biological and clinical information around the DNA sequence and are working to complete a fully integrated functional and structural map for this portion (5%) of the human genome. This approach has already allowed us to so far identify 1900 transcription units and over 20 disease causing genes. We are now comparing the DNA sequence of chromosome 7 to that of other human chromosomes, as well as to the genome’s of other species. This comparative annotation is providing clues into the origins and evolution of chromosome 7 and its role in human development and common complex diseases. The group has also recently discovered the phenomenom of large-scale copy number variation; multiple sites of long stretches of DNA present in different copy numbers in each of our genomes.