As a translator of the encyclopaedia of the human genome, professor of molecular and medical genetics Stephen Scherer and of Sick Kids Hospital was awarded the 2003 Steacie Prize for his outstanding contributions to the field of human genomics, the study of all of our genetic information, and the genetics of human disease.
The Steacie Prize, one of Canada’s most prestigious science awards, is awarded annually for outstanding young scientists or engineers. Professor Scherer’s novel approach to studying individual genes in the bigger context of their place and action in the entire human genome, and his investigations into the relationship between the human genome and genetic diseases also garnered him the Howard Hughes Medical Institute International Scholar Award and Canada’s Top 40 Under 40 Award.
A co-founder of Canada’s first human genome centre, the Centre for Applied Genomics, Scherer balanced on the tightrope between theoretical genetic research and practical medical applications. He attributes his success, including the discovery of over 20 disease-causing genes, to the innovative research approach his group adopted, “which was somewhat unique in the world,” said Scherer. The strategy “consisted of both generating basic genomic information, such as maps and sequences of genes and chromosomes, and applying this data to the study of diseases.”
There are many theoretical geneticists who focus narrowly on one specific level of genetic structure “in sterile industrial-style labs far away from the true beneficiaries,” said Scherer. There are also many clinical researchers who attempt to cure genetic diseases, detached from the actual molecular mechanisms responsible for them.
However, few integrative studies have been done to step beyond the post-Human Genome Project hype and expose the big picture This would either piece together the solitary pieces of scientific data into a meaningful whole, and elucidate exactly how the glitches in the human genome result in physiological disorders. Scherer compared this scenario to the generation of “an encyclopaedia in English for distribution in a country where very few speak the language.”
Here’s where Scherer’s group stepped into the picture, who had the insight to conduct research at the interface between the two approaches. “Our group is one of a few in the world that early on studied the human genome from its highest order structure of chromosomes through to its simplest form of linear DNA sequence,” said Scherer. “This strategy…allowed us to make numerous discoveries regarding how the genome expresses itself in development and disease.”
With this collaborative approach in mind, Scherer’s group constructed a map of human chromosomes, with the primary goal of finding disease-causing genes. Among their numerous achievements, the group has compiled the most complete description of human chromosome seven to date, which was affectionately dubbed “Canada’s chromosome” in honour of the identification of disease-causing genes, such as for cystic fibrosis and colon cancer, by Canadian researchers.
Scherer formed his intimate association with human chromosome seven in his graduate years, where he helped identify the cystic fibrosis gene. “It took so much work and effort to find this one gene, we had the idea we should just map the entire chromosome so it would be easier to find other disease genes,” said Scherer, whose decade-long gene hunting expedition continues today. Some of the 20 disease-causing genes that Scherer’s group discovered over the years include ones that contribute to autism, epilepsy, and leukemia.
Scherer compared the human genome to a 23-volume encyclopaedia of all the information necessary to create and operate a human being, which was ripped apart and chopped down to individual words. After two separate projects attempted to unravel the human genome, “It’s roughly in order, but there are missing pages, rips in pages and some chapters in the wrong order.” Hence, there is still some hide-and-seek, cleaning-up, and stitching left for his team to do in the next three or four years, said Scherer.
Electrified by the potential application of genomic research in the future in medical diagnostics and treatment, Scherer believes that it would not be unusual to include DNA sequencing in an autopsy in 15 years. “The most exciting times are ahead,” he predicted, “because genomics now provides an avenue for unifying natural scientists together to provide solutions to complex biomedical problems, once considered unsolvable.”
