New Genotyping Tool Developed by Roche Expected to Speed Practical Applications of Genomic Research

16-Nov-2000

Palo Alto, Calif. - November 15, 2000 - The recent sequencing of the human genome has provided scientists with a wealth of information, but there is still a great deal of work to be done to identify key genetic variations that contribute to human disease susceptibility. In a move designed to support this effort, Roche Bioscience today announced the successful validation of a novel mouse genotyping tool developed by Gary Peltz, M.D., Ph.D., head of genetics, Inflammatory diseases Unit at Roche Bioscience, and Russell Higuchi, Ph.D., research leader in human genetics at Roche Molecular Systems (RMS). The genotyping tool is expected to speed the development of new diagnostic and treatment agents from genomic research. The research is supported in part by a $1.2 million, three-year grant from the National Human Genome Research Institute (NHGRI) of the National Institutes of Health, the first such grant awarded by NHGRI to a pharmaceutical company. Data generated by the project will be made available to the scientific community via a public Internet database.

The new method provides a faster and more cost-effective approach to identifying Single Nucleotide Polymorphisms (SNPs), nucleotide variations that can co-exist at the same time in a single section of DNA. The new analytical procedure, which has resulted in the identification of more than 300 murine SNP genotyping assays in less than six months, is 30 to 50 times more efficient than current assay methods and could become the industry standard for murine genotyping within the next several years. Also collaborating on this project is Steven Shapiro, M.D., Ph.D., of the Washington University-St. Louis, who is providing experimental models for emphysema.

According to NHGRI Director Francis Collins, M.D., Ph.D., "Now that the International Human Sequencing Consortium has deciphered most of the human DNA sequence, the major emphasis of the Human Genome Project has turned toward interpreting its meaning. The human sequence is written in a language we don't understand, rather like hieroglyphics. Having the mouse sequence to compare it to is rather like discovering the Rosetta stone. Comparing these two ‘languages’, the human and the mouse, allows us to better understand them both."

The new method developed by Roche is currently being applied to the study of the mouse genome, which is 80 percent identical to the human genome, but also has direct applications in human genome research. “The new process will enable scientists to rapidly scan the entire mouse genome for disease-associated risk factors. Experimental results can be extrapolated to identify genetic risk factors in the human genome,” said Dr. Peltz. “In addition, the process has applications that are helpful for developing new diagnostic tools, targeted drug development, and in determining individual predisposition to certain diseases.”

The new method offers two advantages over conventional technologies. It can be used for genotyping pooled DNA samples, which markedly reduces the number of genotyping assays that have to be performed. In addition, SNP-based polymorphisms will provide a much denser data set for analyzing DNA samples than microsatellite markers previously used for genotyping.

The new methodology is expected to dramatically accelerate efforts to build a repository of mouse genetics data. “We’ve made great strides in developing mouse genotyping assays at RMS,” said Dr. Higuchi. “I believe that using mouse models to identify genetic counterparts to human disease is the best way to proceed because it will shorten the time to testing human disease cohorts.” Roche plans to apply this methodology initially to studying DNA samples obtained from individuals with osteoporosis and other conditions to identify genetic factors associated with these diseases.

https://www.chemeurope.com/en/news/353/new-genotyping-tool-developed-by-roche-expected-to-speed-practical-applications-of-genomic-research.html