Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder for which despite its severity, no validated biomarker currently exists to support early diagnosis, limiting therapeutic effectiveness and patient survival. In this context, mathematical modeling therefore becomes essential: it allows us to maximize the information obtainable from a limited number of samples, identify patterns that may not be directly observable, and estimate the relative contribution of different molecular markers to ALS progression. In this work, we propose methods for qualitatively and quantitatively evaluating the relevance of selected biomarkers in ALS classification and disease-state identification and laying the foundations for the definition of a protocol useful for constructing “digital twins” of the entire process of study, diagnosis, and treatment of the disease from the perspective of innovative precision medicine.

Mathematical Approaches for the Characterization and Analysis of Molecular Markers in the Study of the Progression and Severity of Amyotrophic Lateral Sclerosis

Carracciuolo
Primo
;
2026

Abstract

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder for which despite its severity, no validated biomarker currently exists to support early diagnosis, limiting therapeutic effectiveness and patient survival. In this context, mathematical modeling therefore becomes essential: it allows us to maximize the information obtainable from a limited number of samples, identify patterns that may not be directly observable, and estimate the relative contribution of different molecular markers to ALS progression. In this work, we propose methods for qualitatively and quantitatively evaluating the relevance of selected biomarkers in ALS classification and disease-state identification and laying the foundations for the definition of a protocol useful for constructing “digital twins” of the entire process of study, diagnosis, and treatment of the disease from the perspective of innovative precision medicine.
2026
Istituto per i Polimeri, Compositi e Biomateriali - IPCB
Amyotrophic Lateral Sclerosis, molecular markers, Principal Components Analysis, Multiple Imputation by Chained Equations, deep neural networks
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/566344
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