Changes for page Neurodiagnoses

Last modified by manuelmenendez on 2025/03/03 22:46

From version 24.1
edited by manuelmenendez
on 2025/01/29 18:46
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To version 35.1
edited by manuelmenendez
on 2025/02/02 00:48
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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 +
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 +
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 +
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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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 -
27 -[[For instance, 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"]]
28 -
29 -
30 30  This methodology enables:
31 31  
32 32  * Greater precision in diagnosis.
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33 33  * Integration of incomplete datasets using AI-driven probabilistic modeling.
34 34  * Stratification of patients for personalized treatment.
35 35  
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 +
36 36  == **The case of neurodegenerative diseases** ==
37 37  
38 38  There have been described these 3 diagnostic axes:
39 39  
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 +
40 40  * (((
41 41  **Axis 1: Etiology**
42 42  
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66 66  * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
67 67  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
68 68  
69 -== Who has access? ==
70 -
71 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
72 -
73 73  == How to Contribute ==
74 74  
75 75  * Access the `/docs` folder for guidelines.
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81 81  * Develop interpretable AI models for diagnosis and progression tracking.
82 82  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
83 83  * 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!
84 84  )))
85 85  
86 86  
106 +
107 +
108 +
109 +
87 87  (% class="col-xs-12 col-sm-4" %)
88 88  (((
89 89  {{box title="**Contents**"}}
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97 97  * `/data`: Sample datasets for testing.
98 98  * `/outputs`: Generated models, visualizations, and reports.
99 99  * [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
123 +* [[Notebooks>>Notebooks]]
100 100  * [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
101 101  * [[to-do-list>>to-do-list]]
102 102  )))