Skip to main content
Premium Trial:

Request an Annual Quote

Stephen Montgomery: Functional Genomics and Molecular Diagnostics

Premium

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."

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.