VANCOUVER - BC Cancer Agency senior scientist Dr. Marco Marra is among a consortium of researchers to provide the first up-to-date view of the human genome since the historic rough draft was announced in June 2000. 

In a series of groundbreaking articles published in today's issue of the science journal, Nature, researchers from around the globe document what is being called "the first initial sequence and analysis of the human genome." They also take an in-depth look at what impact the genome sequence will have on biology and medicine, and provide a glimpse into what steps are required for advancing human genome research.

Dr. Marra, co-director of the BC Cancer Agency's Genome Sequence Centre, is a co-author* of two of the articles and credits the dedication of thousands of scientists from around the world with what has been learned about the human genome to date.

"The human genome project is a shining achievement for the public domain," said Dr. Marra. "These articles represent the results of the first comprehensive analysis of the essentially complete human genome sequence…an amazing example of what can be accomplished through global cooperation."

Researchers agree that the sequence of the human genome will, among other things, allow for the identification of the genes that cause disease and the creation of new and improved drug therapies. The scientists are quick to point out, however, that although considerable progress has been made in human genome sequencing, the work is not yet complete. It will take many more years of research to achieve even a rudimentary understanding of the function of all of the genes in the genome, although many of the key steps are already underway.

Due to the public availability of the human genome since the beginning of the project, researchers have already obtained important information about the function of genes and the number of genes.

"Cancer, like many other diseases, is caused by gene mutations. We can use the sequence to identify the genes associated with mutations and come to an understanding of what the genes actually do," said Dr. Marra.

Ultimately, the human genome sequence will assist scientists with the design of drugs optimally suited to an individual's genetic profile and to create powerful new screening tools for diseases such as cancer.

"The human genome sequence is available to anyone with access to the Internet," explained Dr. Marra. "It is a wonderful example of what the public sector can do in terms of collaboration and global dissemination of information. Any scientist, doctor or citizen can get this data."

The human genome is the largest genome to be extensively sequenced so far. It is 25 times larger than any previously sequenced genome, including the nematode worm, the fruit fly, and the mustard seed plant.

*For a copy of the papers Initial Sequencing and analysis of the human genome and A physical map of the human genome, visit www.nature.com

The Genome Sequence Centre is one of eight research departments at the BC Cancer Agency working to discover the causes of cancer, ways to improve treatment and the development of more effective ways of controlling and curing the disease.