Advances in High Throughput Proteomics using Next Generation Sequencing as a Readout

The combination of the wealth of genomic and phenotypic datasets to the measurement of the circulating proteome enables a snapshot of real-time biology and important results for determining underlying mechanisms of disease, identifying promising novel drug targets, and opening up new opportunities for companion diagnostics for personalized medicine. This presentation will cover the underlying technology to interrogate up to 3,000 protein biomarkers simultaneously using next-generation sequencing as a readout from a variety of biofluids. Importantly, we will also cover the application of measuring thousands of circulating protein biomarkers to genetic variation data and disease phenotype to determine causality across several diseases with ready application to drug target validation, drug safety and repurposing, and determining biological mechanism of drug action.

In addition, several large collaborative efforts with the UK Biobank and the SCALLOP consortium will illustrate the power of this approach to leverage large cohort studies that combine genetic and phenotypic data with protein biomarker information. 

Learning Objectives:

1. Discuss how genomic variant data can be used in combination with disease phenotype data and circulating proteome data to determine disease causality using a method called Mendelian Randomization

2. Discuss how powerful large cohorts with whole-exome and whole-genome datasets combined with collaborative efforts such as the UK Biobank and the SCALLOP Consortium can drive a new era in discovery of disease mechanisms, novel drug targets, and novel diagnostics

3. Explain the direct connection the plasma proteome offers in the drug discovery process, whether drug safety, drug repurposing, or determining the biological mechanism of drug action