Changes for page Neurodiagnoses

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5 -= Neurodiagnoses =
5 += //A new tridimensional diagnostic framework for CNS diseases// =
6 6  
7 -This project is focused on developing a novel nosological and diagnostic framework for neurological diseases. Using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies, we aim to create a structured, interpretable, and scalable diagnostic tool.
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.
8 +We aim to create a structured, interpretable, and scalable diagnostic tool.
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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 -== Who has access? ==
18 += **Overview** =
18 18  
19 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
20 20  
21 -== How to Contribute: ==
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. **Neurodegenerative and psychiatric disorders**, for example, exhibit significant **clinical overlap, co-pathology, and heterogeneity**, making current diagnostic models insufficient.
22 22  
23 +This project proposes a **new diagnostic framework**—one that **shifts from symptom-based classifications** to an **etiology-driven, tridimensional system**. By integrating **genetics, proteomics, neuroimaging, computational modeling, and AI-powered annotations**, this approach aims to provide a **more precise, scalable, and biologically grounded method for diagnosing and managing CNS diseases**.
24 +
25 +The **AI-powered annotation system** plays a critical role by **structuring, interpreting, and tracking multi-modal data**, ensuring **real-time disease progression analysis, clinician decision support, and personalized treatment pathways**.
26 +
27 +=== **Project Aim** ===
28 +
29 +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**.
30 +
31 +The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
32 +
33 +* **Axis 1**: Etiology (genetic or other causes of diseases).
34 +* **Axis 2**: Molecular Markers (biomarkers).
35 +* **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
36 +
37 +This methodology enables:
38 +
39 +* Greater precision in diagnosis.
40 +* Integration of incomplete datasets using AI-driven probabilistic modeling.
41 +* Stratification of patients for personalized treatment.
42 +
43 +== **The Role of AI-Powered Annotation** ==
44 +
45 +To enhance **standardization, interpretability, and clinical application**, the framework integrates **an AI-powered annotation system**, which:
46 +
47 +* **Assigns structured metadata tags** to diagnostic features.
48 +* **Provides real-time contextual explanations** for AI-based classifications.
49 +* **Tracks longitudinal disease progression** using timestamped AI annotations.
50 +* **Improves AI model transparency** through interpretability tools (e.g., SHAP analysis).
51 +* **Facilitates decision-making for clinicians** by linking annotations to standardized biomedical ontologies (SNOMED, HPO).
52 +
53 +== **The case of neurodegenerative diseases** ==
54 +
55 +There have been described these 3 diagnostic axes:
56 +
57 +[[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"]]
58 +
59 +* (((
60 +**Axis 1: Etiology**
61 +
62 +* //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
63 +* //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
64 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
65 +)))
66 +* (((
67 +**Axis 2: Molecular Markers**
68 +
69 +* //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
70 +* //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
71 +* //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
72 +)))
73 +* (((
74 +**Axis 3: Neuroanatomoclinical**
75 +
76 +* //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments.
77 +* //Examples//: Hippocampal atrophy correlating with memory deficits.
78 +* //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
79 +)))
80 +
81 +== **Applications** ==
82 +
83 +This system enhances:
84 +
85 +* **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
86 +* **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
87 +
88 +== How to Contribute ==
89 +
23 23  * Access the `/docs` folder for guidelines.
24 24  * Use `/code` for the latest AI pipelines.
25 25  * Share feedback and ideas in the wiki discussion pages.
26 26  
27 -== Key Objectives: ==
94 +== Key Objectives ==
28 28  
29 29  * Develop interpretable AI models for diagnosis and progression tracking.
30 30  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
31 31  * Foster collaboration among neuroscientists, AI researchers, and clinicians.
99 +
100 +== Who has access? ==
101 +
102 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
32 32  )))
33 33  
34 34  
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107 +
108 +
109 +
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37 37  {{box title="**Contents**"}}
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38 38  {{toc/}}
39 39  {{/box}}
40 40  
41 -== Main contents: ==
116 +== Main contents ==
42 42  
43 43  * `/docs`: Documentation and contribution guidelines.
44 44  * `/code`: Machine learning pipelines and scripts.
45 45  * `/data`: Sample datasets for testing.
46 46  * `/outputs`: Generated models, visualizations, and reports.
122 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
123 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
124 +* [[to-do-list>>to-do-list]]
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