Methodology
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:
Category | Description |
---|---|
Molecular Biomarkers | Omics-based markers (genomic, transcriptomic, proteomic, metabolomic, lipidomic) |
Neuroimaging Biomarkers | Structural (MRI, CT), Functional (fMRI, PET), Molecular Imaging (tau, amyloid, α-synuclein) |
Fluid Biomarkers | CSF, plasma, blood-based markers for tau, amyloid, α-synuclein, TDP-43, GFAP, NfL, autoantiboides |
Neurophysiological Biomarkers | EEG, MEG, evoked potentials (ERP), sleep-related markers |
Digital Biomarkers | Gait analysis, cognitive/speech biomarkers, wearables data, EHR-based markers |
Clinical Phenotypic Markers | Standardized clinical scores (MMSE, MoCA, CDR, UPDRS, ALSFRS, UHDRS) |
Genetic Biomarkers | Risk alleles (APOE, LRRK2, MAPT, C9orf72, PRNP) and polygenic risk scores |
Environmental & Lifestyle Factors | Toxins, 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:
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.
Download & Prepare Data
- Download datasets while adhering to database usage policies.
Ensure files meet Neurodiagnoses format requirements:
Data Type Accepted 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
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.
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 Type | Application |
---|---|
Graph Neural Networks (GNNs) | Identify shared biomarker pathways across diseases |
Contrastive Learning | Distinguish overlapping vs. unique biomarkers |
Multimodal Transformer Models | Integrate 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