Biomarker Discovery Services
Rare liver diseases pose significant diagnostic and therapeutic challenges due to their intricate biological mechanisms and variable clinical presentations. Protheragen addresses these challenges by integrating multi-omics technologies (genomics, proteomics, metabolomics) with AI-powered analytics and clinical validation to identify biomarkers with translational relevance. Our end-to-end services support researchers and biopharma partners in streamlining therapeutic development, enhancing patient stratification accuracy, and generating regulatory-grade data for preclinical and clinical applications. By translating complex biological insights into actionable strategies, we enable efficient progression from biomarker discovery to therapeutic validation.
Overview
Rare liver diseases like alpha-1 antitrypsin deficiency (AATD), Wilson disease, and progressive familial intrahepatic cholestasis (PFIC) face challenges in clinical management due to insufficient reliable biomarkers for timely diagnosis, disease monitoring, and treatment evaluation. Biomarkers-objective indicators of biological states-are critical for:
- Early differentiation of disease subtypes (e.g., PFIC classification)
- Tracking progression (e.g., fibrosis in AATD)
- Predicting therapeutic outcomes (e.g., RNAi therapy response)
- Stratifying patients for targeted interventions (e.g., gene therapy eligibility)
Advances in multi-omics (genomics, proteomics, metabolomics) and liquid biopsy methods (exosomes, circulating tumor DNA) now enable non-invasive, dynamic biomarker discovery, addressing long-standing gaps in rare liver disease research.
Traditional biomarkers for rare liver diseases have focused on genomic markers, proteomic signatures, and metabolomic profiles. Emerging approaches now integrate extracellular vesicle (EV) analysis for detecting disease-specific miRNAs, methylation-based biomarkers, and AI-driven predictive models. This progression reflects a shift from static genetic markers to dynamic, multi-modal systems that capture real-time disease states and therapeutic interactions.
Fig1. Conceptual model of the future of liver-disease management. (Wu, et al., 2022)Our Services
Protheragen addresses biomarker challenges in rare liver diseases through a phased methodology:
- Discovery Phase: Systematic identification of biomarker candidates via high-throughput omics screening.
- Verification Phase: Rigorous validation using targeted mass spectrometry and immunoassay platforms.
Our process integrates advanced analytical instrumentation, custom bioinformatics pipelines, and hepatology-specific expertise to generate biomarkers with demonstrated clinical applicability. This structured approach ensures biological relevance while maintaining technical reproducibility across discovery and validation workflows.
Multi-Omics Biomarker Screening
We perform integrated genomic, proteomic, and metabolomic analyses to identify candidate biomarkers. Genomic profiling includes whole-exome sequencing for mutation detection and single-cell RNA sequencing (scRNA-seq) of liver tissues. Proteomic workflows incorporate LC-MS/MS for differential protein expression analysis, phosphoproteomics for signaling pathway evaluation, and exosome proteome characterization. Metabolomic services focus on bile acid quantification (UPLC-MS) and lipidomic profiling to assess steatosis and fibrosis progression.
Liquid Biopsy Development
Our liquid biopsy platform isolates and characterizes circulating biomarkers, including exosome analysis (nanoparticle tracking, TEM imaging, protein validation), ctDNA methylation profiling for early cancer detection, and miRNA signature identification (e.g., miR-122 as a hepatocyte injury marker). These minimally invasive methods enable longitudinal disease monitoring.
AI-Powered Biomarker Prediction
We deploy machine learning algorithms to analyze multi-omics and clinical datasets, prioritizing biomarkers with high diagnostic or therapeutic relevance. Our framework incorporates computational models to optimize biomarker selection, reducing discovery timelines while maintaining biological validity.
Why Choose Us?
- Comprehensive Analytical Platforms
We deliver integrated multi-omics profiling spanning genomics, proteomics, and metabolomics to support biomarker discovery and validation.
- Custom Biomarker Solutions
Project-specific workflows are designed to meet unique research objectives, from initial biomarker identification to clinical validation.
- Expert Scientific Support
Our team of experienced scientists provides technical consultation and protocol optimization throughout the discovery process.
- Data Quality Assurance
Advanced analytical platforms and standardized quality control protocols ensure reproducible, high-confidence datasets for preclinical and clinical applications.
FAQs?
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Q: What biomarker types can you identify?
A: We detect genomic variants (e.g., mutations), protein expression profiles, and metabolic alterations relevant to liver disease pathology.
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Q: What is the typical duration of a biomarker discovery project?
A: Project timelines range from 3 to 6 months, depending on scope (e.g., single-omics vs. multi-omics analysis) and sample complexity.
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Q: Which technologies are used in your workflows?
A: Our pipelines incorporate next-generation sequencing (NGS), mass spectrometry (LC-MS/MS), and flow cytometry, supported by standardized quality control protocols.
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Q: What sample types are accepted for analysis?
A: We process plasma, serum, liver biopsies, urine, and saliva samples. Stabilization protocols are optimized for biomarker integrity (tubes for RNA preservation in liquid samples).
Reference
- Wu T, Cooper SA, Shah VH. Omics and AI advance biomarker discovery for liver disease. Nat Med. 2022;28(6):1131-1132.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.