DNA and its close relative, RNA, carry the code of life in all of nature’s creatures, and their study enables scientists to learn a great deal about human genetic diseases, and disease-causing viruses and micro-organisms. For all of these studies, scientists need to measure very accurately the amount of nucleic acids in a sample, however, previous methods were defective, with major limitations. The goal of Alex MacKenzie, Paul Piunno and Ulrich Krull’s project was to develop a new kind of nucleic acid sensor (a “biosensor”) that is reusable, sturdy, rapid, accurate, selective, sensitive and cheap. The value of this new instrument was demonstrated by evaluating DNA associated with Spinal Muscular Atrophy, a very severe childhood genetic condition.
The Human Genome Project documents the complete DNA sequence, not only of humans, but of over 300 other organisms, with more to come. The next step is to turn this wealth of information into useful knowledge so that it can be applied to medical and biological advances. This kind of research is called “functional genomics” and it seeks to learn how genetic information coded in DNA directs all the workings of a living organism.
Jim Woodgett, of Mount Sinai Hospital, developed new techniques and measuring instruments for functional genomics, and applied them to basic research and clinical studies. The work developed better array design through the use of computational algorithms, more efficient storage and recovery of data from DNA microarray experiments, and better ways to compare our data with other researchers in the world. Additionally, one of the team’s robot designs is now sold commercially.
Peter Singer and Abdallah Daar, of the University of Toronto examined the ethical, environmental, legal and social implications of advances in biotechnology and genomics. They studied ethical questions faced by biotechnology companies and how they deal with them with the aim of encouraging companies to adopt suitable ethical policies. They also led in writing a proposal for the Canadian government to guide its strategy for development of genomics and biotechnology, and were a major contributor to the Genomics and Nanotechnology Working Group of the United Nations Science and Technology Task Force; this report was distributed all over the world.
Janet Rossant of The Hospital for Sick Children and Brenda Andrews, Jack Greenblatt, Andrew Spence of the University of Toronto led the Functional Annotation of the Mouse Genome project, which generated mouse models for human conditions such as kidney disease and osteoporosis, developed new tools to help characterize Canada’s mutant mice, and established new mouse cell lines that are in high demand by academic and industrial investigators worldwide. Their approaches now promise to provide major insights into human pathologies and highlight effective targets for therapeutic development.
While genomics/biotechnology can help address health challenges currently facing both the developed and developing world, there are growing knowledge gaps in the global community. The Canadian Program on Genomics and Global Health (CPGGH) was developed to help close some of those gaps. Peter Singer and Abdallah Daar’s program on genomics and global health has influenced federal and foreign policy decisions, increased the opportunity for Canadian genomics and biotechnology companies to internationalize in emerging and developing markets, and increased public awareness on the uses and misuses of genomics to address global health challenges. The project also published 60 papers, 22 books and monographs, 17 book chapters and contributions to collective work, and 166 invited presentations
Chromosome 7 contains many genes crucial to development, the cystic fibrosis gene, and is often damaged in some types of leukemia and other cancers. This project, led by Steve Scherer of the Hospital for Sick Children completed a gene map and applied it to disease study, and annotated all pertinent biological features contained in the DNA sequence of human chromosome 7. The project published a seminal manuscript in Science in 2003, describing an accurate DNA sequence and annotation of the entire human chromosome 7 – the first such paper of its kind. Products of this project have been distributed to over 350 investigators worldwide, many of which were probes sent for patient studies or diagnosis.