Changes for page Neurodiagnoses

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5 -= //A new tridimensional diagnostic framework for neurodegenerative 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 neurodegenerative 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.
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10 10  )))
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15 15  (((
16 16  = What is this about and what can I find here? =
17 17  
18 -== **Overview** ==
18 += **Overview** =
19 19  
20 -The //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDD) are classified by focusing on:
21 21  
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 +
25 +The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
26 +
22 22  * **Axis 1**: Etiology (genetic or other causes of diseases).
23 23  * **Axis 2**: Molecular Markers (biomarkers).
24 24  * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
25 25  
26 -[[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"]]
27 -
28 -
29 29  This methodology enables:
30 30  
31 31  * Greater precision in diagnosis.
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32 32  * Integration of incomplete datasets using AI-driven probabilistic modeling.
33 33  * Stratification of patients for personalized treatment.
34 34  
35 -== **Diagnostic Axes** ==
37 +== **The role of AI-powered annotation** ==
36 36  
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 +
69 +== **The case of neurodegenerative diseases** ==
70 +
71 +There have been described these 3 diagnostic axes:
72 +
73 +[[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"]]
74 +
37 37  * (((
38 38  **Axis 1: Etiology**
39 39  
40 40  * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
41 41  * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
42 -* //Tests//: Genetic testing, lifestyle and cardiovascular screening.
80 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
81 +
82 +
43 43  )))
44 44  * (((
45 45  **Axis 2: Molecular Markers**
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47 47  * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
48 48  * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
49 49  * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
90 +
91 +
50 50  )))
51 51  * (((
52 52  **Axis 3: Neuroanatomoclinical**
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63 63  * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
64 64  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
65 65  
66 -== Who has access? ==
67 -
68 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
69 -
70 70  == How to Contribute ==
71 71  
72 72  * Access the `/docs` folder for guidelines.
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78 78  * Develop interpretable AI models for diagnosis and progression tracking.
79 79  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
80 80  * Foster collaboration among neuroscientists, AI researchers, and clinicians.
119 +
120 +== Who has access? ==
121 +
122 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
81 81  )))
82 82  
83 83  
126 +
127 +
128 +
129 +
84 84  (% class="col-xs-12 col-sm-4" %)
85 85  (((
86 86  {{box title="**Contents**"}}
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93 93  * `/code`: Machine learning pipelines and scripts.
94 94  * `/data`: Sample datasets for testing.
95 95  * `/outputs`: Generated models, visualizations, and reports.
142 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
143 +* [[Notebooks>>Notebooks]]
144 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
145 +* [[to-do-list>>to-do-list]]
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