Methodology

Version 22.1 by manuelmenendez on 2025/02/15 12:55

Neurodiagnoses AI is an open-source, AI-driven framework designed to enhance the diagnosis and prognosis of central nervous system (CNS) disorders. Building upon the Florey Dementia Index (FDI) methodology, it now encompasses a broader spectrum of neurological conditions. The system integrates multimodal data sources—including EEG, neuroimaging, biomarkers, and genetics—and employs machine learning models to deliver explainable, real-time diagnostic insights. A key feature of this framework is the incorporation of the Generalized Neuro Biomarker Ontology Categorization (Neuromarker), which standardizes biomarker classification across all neurodegenerative diseases, facilitating cross-disease AI training.

Neuromarker: Generalized Biomarker Ontology

Neuromarker extends the Common Alzheimer’s Disease Research Ontology (CADRO) into a comprehensive biomarker categorization framework applicable to all neurodegenerative diseases (NDDs). This ontology enables standardized classification, AI-based feature extraction, and seamless multimodal data integration.

Core Biomarker Categories

Within the Neurodiagnoses AI framework, biomarkers are categorized as follows:

CategoryDescription
Molecular BiomarkersOmics-based markers (genomic, transcriptomic, proteomic, metabolomic, lipidomic)
Neuroimaging BiomarkersStructural (MRI, CT), Functional (fMRI, PET), Molecular Imaging (tau, amyloid, α-synuclein)
Fluid BiomarkersCSF, plasma, blood-based markers for tau, amyloid, α-synuclein, TDP-43, GFAP, NfL
Neurophysiological BiomarkersEEG, MEG, evoked potentials (ERP), sleep-related markers
Digital BiomarkersGait analysis, cognitive/speech biomarkers, wearables data, EHR-based markers
Clinical Phenotypic MarkersStandardized clinical scores (MMSE, MoCA, CDR, UPDRS, ALSFRS, UHDRS)
Genetic BiomarkersRisk alleles (APOE, LRRK2, MAPT, C9orf72, PRNP) and polygenic risk scores
Environmental & Lifestyle FactorsToxins, infections, diet, microbiome, comorbidities

Integrating External Databases into Neurodiagnoses

To enhance diagnostic precision, Neurodiagnoses AI incorporates data from multiple biomedical and neurological research databases. Researchers can integrate external datasets by following these steps:

  1. Register for Access

    • Each external database requires individual registration and access approval.
    • Ensure compliance with ethical approvals and data usage agreements before integrating datasets into Neurodiagnoses.
    • Some repositories may require a Data Usage Agreement (DUA) for sensitive medical data.
  2. Download & Prepare Data

    • Download datasets while adhering to database usage policies.
    • Ensure files meet Neurodiagnoses format requirements:

      Data TypeAccepted Formats
      Tabular Data.csv, .tsv
      Neuroimaging.nii, .dcm
      Genomic Data.fasta, .vcf
      Clinical Metadata.json, .xml
    • Mandatory Fields for Integration:

      • Subject ID: Unique patient identifier
      • Diagnosis: Standardized disease classification
      • Biomarkers: CSF, plasma, or imaging biomarkers
      • Genetic Data: Whole-genome or exome sequencing
      • Neuroimaging Metadata: MRI/PET acquisition parameters
  3. Upload Data to Neurodiagnoses

    • Option 1: Upload to EBRAINS Bucket

      • Location: EBRAINS Neurodiagnoses Bucket
      • Ensure correct metadata tagging before submission.
    • Option 2: Contribute via GitHub Repository

      • Location: GitHub Data Repository
      • Create a new folder under /data/ and include a dataset description.
      • For large datasets, contact project administrators before uploading.
  4. Integrate Data into AI Models

    • Open Jupyter Notebooks on EBRAINS to run preprocessing scripts.
    • Standardize neuroimaging and biomarker formats using harmonization tools.
    • Utilize machine learning models to handle missing data and feature extraction.
    • Train AI models with newly integrated patient cohorts.

    Reference: See docs/data_processing.md for detailed instructions.

AI-Driven Biomarker Categorization

Neurodiagnoses employs advanced AI models for biomarker classification:

Model TypeApplication
Graph Neural Networks (GNNs)Identify shared biomarker pathways across diseases
Contrastive LearningDistinguish overlapping vs. unique biomarkers
Multimodal Transformer ModelsIntegrate imaging, omics, and clinical data

Collaboration & Partnerships

Neurodiagnoses actively seeks partnerships with data providers to:

  • Enable API-based data integration for real-time processing.
  • Co-develop harmonized AI-ready datasets with standardized annotations.
  • Secure funding opportunities through joint grant applications.

Interested in Partnering?

If you represent a research consortium or database provider, reach out to explore data-sharing agreements.

Contact: info@neurodiagnoses.com