Frederick Roth’s research team is developing technology to accelerate discovery of gene functions, the pathways they encode, the relationships of genes and pathways and variation to human disease.
They are exploring new ways to adapt technology for sequencing DNA to increase the scale at which we can determine a gene’s function. For example, they are harnessing sequencing technology to systematically map the effects of multiple genetic changes in combination across multiple environments. They are applying advanced sequencing technologies to efficiently measure interactions between proteins, and to identify the effects of viral proteins or cancer-causing signalling proteins on the network of interactions between human proteins.
A current major challenge in medicine is interpreting the disease risk of variants in individual human genomes. Roth’s team has recently undertaken an effort to test the functional effect of essentially all possible variants in human disease genes, so that the impact of even the rarest human sequence variants can be interpreted as soon as they are detected. The team continues to focus on developing technology to more efficiently relate genes to the functioning of living systems and human disease.
Canada Excellence Research Chair
National Science Foundation Graduate Fellowship
Member of the U.S. National Institutes of Health Study Section on Genomics, Computational Biology and Technology
Roth, F.P. et al. "Finding DNA regulatory motifs within unaligned noncoding sequences clustered by whole-genome mRNA quantitation.” Nature Biotechnology 16 (1998): 939–45.