Toward Molecular Stratification and Precision Medicine in Systemic Sclerosis

Systemic sclerosis (SSc), a complex multi-systemic disease characterized by immune dysregulation, vasculopathy and fibrosis, is associated with high mortality. Its pathogenesis is only partially understood. The heterogenous pathological processes that define SSc and its stages present a challenge to...

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Main Authors: Maria Noviani, Vasuki Ranjani Chellamuthu, Salvatore Albani, Andrea Hsiu Ling Low
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Medicine
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2022.911977/full
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author Maria Noviani
Maria Noviani
Vasuki Ranjani Chellamuthu
Salvatore Albani
Salvatore Albani
Andrea Hsiu Ling Low
Andrea Hsiu Ling Low
author_facet Maria Noviani
Maria Noviani
Vasuki Ranjani Chellamuthu
Salvatore Albani
Salvatore Albani
Andrea Hsiu Ling Low
Andrea Hsiu Ling Low
author_sort Maria Noviani
collection DOAJ
description Systemic sclerosis (SSc), a complex multi-systemic disease characterized by immune dysregulation, vasculopathy and fibrosis, is associated with high mortality. Its pathogenesis is only partially understood. The heterogenous pathological processes that define SSc and its stages present a challenge to targeting appropriate treatment, with differing treatment outcomes of SSc patients despite similar initial clinical presentations. Timing of the appropriate treatments targeted at the underlying disease process is critical. For example, immunomodulatory treatments may be used for patients in a predominantly inflammatory phase, anti-fibrotic treatments for those in the fibrotic phase, or combination therapies for those in the fibro-inflammatory phase. In advancing personalized care through precision medicine, groups of patients with similar disease characteristics and shared pathological processes may be identified through molecular stratification. This would improve current clinical sub-setting systems and guide personalization of therapies. In this review, we will provide updates in SSc clinical and molecular stratification in relation to patient outcomes and treatment responses. Promises of molecular stratification through advances in high-dimensional tools, including omic-based stratification (transcriptomics, genomics, epigenomics, proteomics, cytomics, microbiomics) and machine learning will be discussed. Innovative and more granular stratification systems that integrate molecular characteristics to clinical phenotypes would potentially improve therapeutic approaches through personalized medicine and lead to better patient outcomes.
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spelling doaj.art-c653d47bffca4885892713e9bea5c0b72022-12-22T00:32:21ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2022-06-01910.3389/fmed.2022.911977911977Toward Molecular Stratification and Precision Medicine in Systemic SclerosisMaria Noviani0Maria Noviani1Vasuki Ranjani Chellamuthu2Salvatore Albani3Salvatore Albani4Andrea Hsiu Ling Low5Andrea Hsiu Ling Low6Department of Rheumatology and Immunology, Singapore General Hospital, Singapore, SingaporeDuke–National University of Singapore Medical School, Singapore, SingaporeTranslational Immunology Institute, SingHealth Duke-NUS Academic Medical Centre, Singapore, SingaporeDuke–National University of Singapore Medical School, Singapore, SingaporeTranslational Immunology Institute, SingHealth Duke-NUS Academic Medical Centre, Singapore, SingaporeDepartment of Rheumatology and Immunology, Singapore General Hospital, Singapore, SingaporeDuke–National University of Singapore Medical School, Singapore, SingaporeSystemic sclerosis (SSc), a complex multi-systemic disease characterized by immune dysregulation, vasculopathy and fibrosis, is associated with high mortality. Its pathogenesis is only partially understood. The heterogenous pathological processes that define SSc and its stages present a challenge to targeting appropriate treatment, with differing treatment outcomes of SSc patients despite similar initial clinical presentations. Timing of the appropriate treatments targeted at the underlying disease process is critical. For example, immunomodulatory treatments may be used for patients in a predominantly inflammatory phase, anti-fibrotic treatments for those in the fibrotic phase, or combination therapies for those in the fibro-inflammatory phase. In advancing personalized care through precision medicine, groups of patients with similar disease characteristics and shared pathological processes may be identified through molecular stratification. This would improve current clinical sub-setting systems and guide personalization of therapies. In this review, we will provide updates in SSc clinical and molecular stratification in relation to patient outcomes and treatment responses. Promises of molecular stratification through advances in high-dimensional tools, including omic-based stratification (transcriptomics, genomics, epigenomics, proteomics, cytomics, microbiomics) and machine learning will be discussed. Innovative and more granular stratification systems that integrate molecular characteristics to clinical phenotypes would potentially improve therapeutic approaches through personalized medicine and lead to better patient outcomes.https://www.frontiersin.org/articles/10.3389/fmed.2022.911977/fullsystemic sclerosisstratificationprecision medicinemolecularmulti-omic analyses
spellingShingle Maria Noviani
Maria Noviani
Vasuki Ranjani Chellamuthu
Salvatore Albani
Salvatore Albani
Andrea Hsiu Ling Low
Andrea Hsiu Ling Low
Toward Molecular Stratification and Precision Medicine in Systemic Sclerosis
Frontiers in Medicine
systemic sclerosis
stratification
precision medicine
molecular
multi-omic analyses
title Toward Molecular Stratification and Precision Medicine in Systemic Sclerosis
title_full Toward Molecular Stratification and Precision Medicine in Systemic Sclerosis
title_fullStr Toward Molecular Stratification and Precision Medicine in Systemic Sclerosis
title_full_unstemmed Toward Molecular Stratification and Precision Medicine in Systemic Sclerosis
title_short Toward Molecular Stratification and Precision Medicine in Systemic Sclerosis
title_sort toward molecular stratification and precision medicine in systemic sclerosis
topic systemic sclerosis
stratification
precision medicine
molecular
multi-omic analyses
url https://www.frontiersin.org/articles/10.3389/fmed.2022.911977/full
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