Navigating disease phenotypes – A multidimensional single-cell resolution compass leads the way

Abstract

Cellular phenotyping, in particular immune cell phenotyping, has become an integral part of personalized and stratified medicine approaches in order to facilitate classification of patient cohorts according to proteomic, transcriptomic or genomic information, with the ultimate goal to increase treatment efficiency and outcome. However, choosing the optimal and most informative phenotyping approach to discover novel and predictive biomarkers for patient cohorts has become a major challenge and greatly hampers knowledge gain to successfully develop and tailor new and existing therapies to suitable patient collectives [1]. Recent technological innovations, such as single-cell proteomics (Mass Cytometry) and single-cell transcriptomics have become available which possess the power to measure thousands of features for thousands to millions of cells in parallel, thereby allowing the deep characterization of complex cellular networks in homeostasis as well as perturbations under disease conditions [2]. These multidimensional approaches dramatically accelerate the discovery of novel biomarkers for disease prediction and progression within personalized medicine approaches. These approaches now allow for the characterization of small amounts of patient material both on the protein and on the transcriptome level to allow for an unbiased, high-dimensional, and bioinformatically supported systems biology approach which enables discovery, design and implementation of novel biomarkers into the clinical routine in a rapid fashion. In this review, we will discuss the available technologies and recent applications and scientific advances enabled by these technologies highlighting our view of how to integrate these technologies into translational research to achieve a more reliable, more rapid and better informed approach to molecular phenotyping ultimately achieving the level of knowledge needed to implement personalized medicine approaches for a wider patient base.