Changes for page Neurodiagnoses

Last modified by manuelmenendez on 2025/03/03 22:46
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edited by manuelmenendez
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To version 47.1
edited by manuelmenendez
on 2025/03/03 22:46
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2 2  (((
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5 -= My Collab's Extended Title =
5 += //A new tridimensional diagnostic framework for complex CNS diseases// =
6 6  
7 -My collab's subtitle
7 +This project is focused on developing a novel nosological and diagnostic framework for complex CNS diseases by using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies.
8 +We aim to create a structured, interpretable, and scalable diagnostic tool.
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9 9  )))
10 10  
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15 -= What can I find here? =
16 += What is this about and what can I find here? =
16 16  
17 -* Notice how the table of contents on the right
18 -* is automatically updated
19 -* to hold this page's headers
18 += **Overview** =
20 20  
21 -= Who has access? =
20 +The classification and diagnosis of central nervous system (CNS) diseases have long been constrained by traditional, phenotype-based approaches that often fail to capture the complex interplay of pathophysiological mechanisms, molecular biomarkers, and neuroanatomical changes.
22 22  
23 -Describe the audience of this collab.
22 +**Neurodiagnoses** redefines this landscape by integrating advanced AI with multi-modal data—including genetics, neuroimaging, biomarkers, and digital health records—to create a more precise, scalable, and data-driven diagnostic system.
23 +
24 +Additionally, **Neurodiagnoses is now expanding into disease prediction and biomarker estimation**, integrating state-of-the-art machine learning models to enhance precision diagnostics and disease progression forecasting.
25 +
26 +On this page, you will find:
27 +
28 +* Detailed descriptions of both the clinical diagnostic tools and the research framework.
29 +* Access to our AI models, data processing pipelines, and digital twin simulations.
30 +* Collaborative resources for researchers, clinicians, and AI developers.
31 +* Guidelines and instructions on how to contribute to and expand the project.
32 +
33 +== **The role of AI-powered annotation** ==
34 +
35 +To enhance standardization, interpretability, and clinical application, the framework integrates an AI-powered annotation system, which:
36 +
37 +* Assigns structured metadata tags to diagnostic features.
38 +* Provides real-time contextual explanations for AI-based classifications.
39 +* Tracks longitudinal disease progression using timestamped AI annotations.
40 +* Improves AI model transparency through interpretability tools (e.g., SHAP analysis).
41 +* Facilitates decision-making for clinicians by linking annotations to standardized biomedical ontologies (SNOMED, HPO).
42 +
43 +Neurodiagnoses provides **two complementary AI-driven diagnostic approaches**:
44 +
45 +1. **Probabilistic Diagnosis**
46 + * AI assigns probability scores to multiple possible diagnoses based on biomarker, imaging, and clinical data.
47 + * Useful for differential diagnosis and treatment decision-making.
48 +
49 +2. **Tridimensional Diagnosis**
50 + * Diagnoses are structured based on:
51 + - **(1) Etiology** (genetic, autoimmune, metabolic, infectious).
52 + - **(2) Molecular Biomarkers** (amyloid-beta, tau, inflammatory markers, EEG patterns).
53 + - **(3) Neuroanatomoclinical Correlations** (brain atrophy, connectivity alterations).
54 + * This approach enables precise disease subtyping and biologically meaningful classification, particularly useful for tracking progression over time.
55 +
56 +Both systems will be offered for every patient case, allowing clinicians to compare AI-generated probabilistic diagnosis with a structured tridimensional classification.
57 +
58 +== **Disease Prediction and Biomarker Estimation** ==
59 +
60 +Neurodiagnoses is also implementing **biomarker prediction and disease progression modeling**, using advanced machine learning techniques:
61 +
62 +* **Biomarker Prediction:**
63 + - Estimation of fluid-based and neuroimaging biomarkers without invasive testing.
64 + - Multi-modal machine learning models for predicting molecular and clinical markers.
65 +
66 +* **Disease Progression Modeling:**
67 + - AI-driven forecasts for neurodegenerative disease evolution.
68 + - Probabilistic disease conversion models (e.g., MCI to AD, Parkinson's prodromal phases).
69 + - Survival models and risk stratification for precision medicine applications.
70 +
71 +== **The case of neurodegenerative diseases** ==
72 +
73 +There have been described these 3 diagnostic axes:
74 +
75 +[[Neurodegenerative diseases can be studied and classified in a tridimensional scheme with three axes: anatomic–clinical, molecular, and etiologic. CSF, cerebrospinal fluid; FDG, fluorodeoxyglucose; MRI, magnetic resonance imaging; PET, positron emission tomography.>>image:tridimensional.png||alt="tridimensional view of neurodegenerative diseases"]]
76 +
77 +* (((
78 +**Axis 1: Etiology**
79 +* //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
80 +* //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
81 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
24 24  )))
83 +* (((
84 +**Axis 2: Molecular Markers**
85 +* //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
86 +* //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
87 +* //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
88 +)))
89 +* (((
90 +**Axis 3: Neuroanatomoclinical**
91 +* //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments.
92 +* //Examples//: Hippocampal atrophy correlating with memory deficits.
93 +* //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
94 +)))
25 25  
96 +== **Applications** ==
26 26  
98 +This system enhances:
99 +
100 +* **Research**: By stratifying patients, reducing cohort heterogeneity in clinical trials.
101 +* **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
102 +
103 +== How to Contribute ==
104 +
105 +* Access the `/docs` folder for guidelines.
106 +* Use `/code` for the latest AI pipelines.
107 +* Share feedback and ideas in the wiki discussion pages.
108 +* Join our [[Community on EBRAINS>>https://community.ebrains.eu/_ideas/-OJHTZrpKrrrkx-u0djj/about]]
109 +* Join the [[Discussion Forum at GitHub>>https://github.com/Fundacion-de-Neurociencias/neurodiagnoses/discussions]]
110 +
111 +== Key Objectives ==
112 +
113 +* Develop interpretable AI models for diagnosis and progression tracking.
114 +* Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
115 +* Foster collaboration among neuroscientists, AI researchers, and clinicians.
116 +* Provide a dual diagnostic system:
117 + ** Probabilistic Diagnosis – AI assigns multiple traditional possible diagnoses with probability percentages.
118 + ** Tridimensional Diagnosis – AI structures diagnoses based on etiology, biomarkers, and neuroanatomical correlations.
119 +* Implement disease prediction models for neurodegenerative conditions.
120 +* Predict biomarkers from non-invasive data sources.
121 +
122 +== Who has access? ==
123 +
124 +We welcome contributions from the global community. Join us as we transform CNS diagnostics and drive precision medicine forward through a collaborative, open-source approach. Let’s build the future of neurological diagnostics together!
125 +)))
126 +
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29 29  {{box title="**Contents**"}}
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30 30  {{toc/}}
31 31  {{/box}}
32 32  
33 -
133 +== Main contents ==
134 +
135 +* `/docs`: Documentation and contribution guidelines.
136 +* `/code`: Machine learning pipelines and scripts.
137 +* `/data`: Sample datasets for testing.
138 +* `/outputs`: Generated models, visualizations, and reports.
139 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
140 +* [[Notebooks>>Notebooks]]
141 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
142 +* [[to-do-list>>to-do-list]]
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35 35  )))
145 +
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