Finding biological markers of MS for better diagnosis and prognostication

Dr Xin Lin

Menzies Institute for Medical Research, University of Tasmania, TAS

January 2024

specialisation: Epidemiology

focus area: Causes and Prevention

funding type: Fellowship

project type: Investigator Led Research

Summary

Over recent decades, the clinical diagnosis of MS has evolved and improved with the inclusion of imaging and cerebrospinal fluid markers in the diagnostic criteria. However, the less invasive and more clinically accessible blood-based signs of disease (known as “biomarkers”) are not yet available for MS, and thus the process of diagnosing MS remains time-consuming and presents a barrier to treating MS from the earliest stages. To overcome this challenge, we need to first develop a comprehensive understanding of the genetic and molecular basis of MS. This will enable the identification of key points of interventions for stopping the underlying mechanisms triggering and/or driving MS disease activities.

Advanced technologies are now capable of measuring thousands of molecules for evaluation as biomarkers, such as proteins (proteomics), metabolites (metabolomics) and lipids (lipidomics), in the form of “multi-omics” data (multiple biological data types). Dr Lin’s recent work has demonstrated the power of multi-omics research in supporting MS biomarker discovery when combined with well-curated clinical data. Additionally, his work has indicated a significant role for rare forms of genetic changes in MS.

In this study, Dr Lin will integrate multi-omics data and extensive clinical data to examine how molecular signs of MS are interconnected across different biological layers and contribute to MS risk and progression. He will also examine different forms of genetic changes that are understudied in MS.

Through a better understanding of the genetic and molecular basis of MS, results from this work could help identify new biomarkers of MS and contribute to developing better diagnostics to detect MS earlier. This could increase precision in disease monitoring and treatments for MS.

Progress

Using blood samples collected by the AusLong Study, Dr Lin and his team conducted experiments for measuring thousands of different molecules that are critical for this project. These included metabolites and lipids, which are small molecules that reflect a range of biological processes.

Dr Lin and his team have developed and employed a set of procedures to process and analyse the newly generated data. Preliminary results have identified a set of MS-associated molecules as important candidates for further investigations, including whether these may also play a role in driving MS disease progression.

Over the next year, Dr Lin and his team will jointly analyse different available datasets together to better understand the set of identified molecules and their connection with MS progression.

Dr Lin is currently preparing two manuscripts for publication and a third manuscript is being reviewed by a peer-reviewed journal.

Updated 31 March 2025

lead investigator

total funding

$225,000

start year

2024

duration

3 years

STATUS

Current project

Stages of the research process

Fundamental laboratory Research

Laboratory research that investigates scientific theories behind the possible causes, disease progression, ways to diagnose and better treat MS.

Lab to clinic timeline

10+ years

Translational Research

Research that builds on fundamental scientific research to develop new therapies, medical procedures or diagnostics and advances it closer to the clinic.

Lab to clinic timeline

5+ years

Clinical Studies and Clinical Trials

Clinical research is the culmination of fundamental and translational research turning those research discoveries into treatments and interventions for people with MS.

Lab to clinic timeline

3+ years

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Finding biological markers of MS for better diagnosis and prognostication