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Stephen Montgomery: Functional Genomics and Molecular Diagnostics

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Recommended by: Steve Jones, BC Cancer Agency

Formally trained as an engineering physicist, Stanford University School of Medicine's Stephen Montgomery first became interested in genomics because of a "desire to direct my energy at research which would improve global health," he says.

Now, members of the Montgomery lab are working to understand "the function of the non-coding genome and how non-coding variation defines human traits," he adds. "We want to know why certain people who carry disease-predisposing variants do not have disease. We want to know for any given disease which tissues are pathological. We want to be able to use gene expression data to help predict the etiology of rare, undiagnosed diseases. We also want to facilitate the development of molecular diagnostics, which are more predictive of disease and treatment response than the genome or any other current test alone."

Indeed, to Montgomery's mind, the "development of molecular diagnostics using diverse types of sequencing will be one of the major outcomes of investment in functional genomics research."

Looking ahead

With an eye to the future, Montgomery says he looks forward to using applications on the horizon like high-throughput full-length transcript sequencing, single-cell transcriptomics analysis, and high-throughput single-nucleotide mutagenesis analysis. In the nearer term, Montgomery has a more modest technology request. "I could settle right now for WiFi on all airline flights," he says.

And the Nobel goes to…

Were he to win a Nobel Prize, Montgomery says he'd like it to be for "improving our understanding of a single disease to the point we can effectively eradicate it."