Changes for page Neurodiagnoses

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on 2025/02/02 20:53
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2 2  (((
3 3  (% class="container" %)
4 4  (((
5 -= //A new tridimensional diagnostic framework for CNS diseases// =
5 += //A new tridimensional diagnostic framework for complex CNS diseases// =
6 6  
7 -This project is focused on developing a novel nosological and diagnostic framework for CNS diseases by using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies.
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 8  We aim to create a structured, interpretable, and scalable diagnostic tool.
9 9  )))
10 10  )))
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17 17  
18 18  = **Overview** =
19 19  
20 +
21 +The classification and diagnosis of central nervous system (CNS) diseases have long been constrained by traditional phenotype-based approaches, which often fail to capture the complex pathophysiological mechanisms, molecular biomarkers, and neuroanatomical changes that drive disease progression.
22 +
23 +Neurodiagnoses is an open-source AI-powered diagnostic system designed for complex CNS disorders, including neurodegenerative diseases, autoimmune encephalopathies, prion disorders, and genetic syndromes. The project aims to develop a tridimensional diagnostic framework with an AI-powered annotation system, integrating etiology, molecular biomarkers, and neuroanatomoclinical correlations for precise, standardized, and scalable CNS disease diagnostics.
24 +
20 20  The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
21 21  
22 22  * **Axis 1**: Etiology (genetic or other causes of diseases).
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29 29  * Integration of incomplete datasets using AI-driven probabilistic modeling.
30 30  * Stratification of patients for personalized treatment.
31 31  
37 +== **The role of AI-powered annotation** ==
38 +
39 +To enhance standardization, interpretability, and clinical application, the framework integrates an AI-powered annotation system, which:
40 +
41 +* Assigns structured metadata tags to diagnostic features.
42 +* Provides real-time contextual explanations for AI-based classifications.
43 +* Tracks longitudinal disease progression using timestamped AI annotations.
44 +* Improves AI model transparency through interpretability tools (e.g., SHAP analysis).
45 +* Facilitates decision-making for clinicians by linking annotations to standardized biomedical ontologies (SNOMED, HPO).
46 +
47 +Neurodiagnoses provides two complementary AI-driven diagnostic approaches:
48 +
49 +1. Traditional Probabilistic Diagnosis
50 +
51 +* AI provides multiple possible diagnoses, each assigned a probability percentage based on biomarker, imaging, and clinical data.
52 +* Example Output:
53 +** 75% Alzheimer's Disease
54 +** 20% Lewy Body Dementia
55 +** 5% Vascular Dementia
56 +* Useful for differential diagnosis and treatment decision-making.
57 +
58 +2. Tridimensional Diagnosis
59 +
60 +* Diagnoses are structured based on:
61 +(1) Etiology (genetic, autoimmune, metabolic, infectious)
62 +(2) Molecular Biomarkers (amyloid-beta, tau, inflammatory markers, EEG patterns)
63 +(3) Neuroanatomoclinical Correlations (brain atrophy, connectivity alterations)
64 +* This approach enables precise disease subtyping and biologically meaningful classification, particularly useful to track progression over time.
65 +
66 +For every patient case, both systems will be offered, allowing clinicians to compare AI-generated probabilistic diagnosis with a structured tridimensional classification.
67 +
68 +
32 32  == **The case of neurodegenerative diseases** ==
33 33  
34 34  There have been described these 3 diagnostic axes:
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41 41  * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
42 42  * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
43 43  * //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
81 +
82 +
44 44  )))
45 45  * (((
46 46  **Axis 2: Molecular Markers**
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48 48  * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
49 49  * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
50 50  * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
90 +
91 +
51 51  )))
52 52  * (((
53 53  **Axis 3: Neuroanatomoclinical**
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64 64  * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
65 65  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
66 66  
67 -== Who has access? ==
68 -
69 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
70 -
71 71  == How to Contribute ==
72 72  
73 73  * Access the `/docs` folder for guidelines.
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79 79  * Develop interpretable AI models for diagnosis and progression tracking.
80 80  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
81 81  * Foster collaboration among neuroscientists, AI researchers, and clinicians.
119 +* Provide a dual diagnostic system:
120 +** Probabilistic Diagnosis – AI assigns multiple traditional possible diagnoses with probability percentages.
121 +** Tridimensional Diagnosis – AI structures diagnoses based on etiology, biomarkers, and neuroanatomical correlations.
122 +
123 +== Who has access? ==
124 +
125 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
82 82  )))
83 83  
84 84  
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85 85  
86 86  
87 87  
132 +
88 88  (% class="col-xs-12 col-sm-4" %)
89 89  (((
90 90  {{box title="**Contents**"}}
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98 98  * `/data`: Sample datasets for testing.
99 99  * `/outputs`: Generated models, visualizations, and reports.
100 100  * [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
146 +* [[Notebooks>>Notebooks]]
101 101  * [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
102 102  * [[to-do-list>>to-do-list]]
103 103  )))