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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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 -== 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 +T
20 20  
21 -== How to Contribute: ==
22 +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  
24 +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**.
25 +
26 +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**.
27 +
28 +=== **Project Aim** ===
29 +
30 +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**.
31 +
32 +The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
33 +
34 +* **Axis 1**: Etiology (genetic or other causes of diseases).
35 +* **Axis 2**: Molecular Markers (biomarkers).
36 +* **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
37 +
38 +This methodology enables:
39 +
40 +* Greater precision in diagnosis.
41 +* Integration of incomplete datasets using AI-driven probabilistic modeling.
42 +* Stratification of patients for personalized treatment.
43 +
44 +== **The Role of AI-Powered Annotation** ==
45 +
46 +To enhance **standardization, interpretability, and clinical application**, the framework integrates **an AI-powered annotation system**, which:
47 +
48 +* **Assigns structured metadata tags** to diagnostic features.
49 +* **Provides real-time contextual explanations** for AI-based classifications.
50 +* **Tracks longitudinal disease progression** using timestamped AI annotations.
51 +* **Improves AI model transparency** through interpretability tools (e.g., SHAP analysis).
52 +* **Facilitates decision-making for clinicians** by linking annotations to standardized biomedical ontologies (SNOMED, HPO).
53 +
54 +== **The case of neurodegenerative diseases** ==
55 +
56 +There have been described these 3 diagnostic axes:
57 +
58 +[[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"]]
59 +
60 +* (((
61 +**Axis 1: Etiology**
62 +
63 +* //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
64 +* //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
65 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
66 +)))
67 +* (((
68 +**Axis 2: Molecular Markers**
69 +
70 +* //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
71 +* //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
72 +* //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
73 +)))
74 +* (((
75 +**Axis 3: Neuroanatomoclinical**
76 +
77 +* //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments.
78 +* //Examples//: Hippocampal atrophy correlating with memory deficits.
79 +* //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
80 +)))
81 +
82 +== **Applications** ==
83 +
84 +This system enhances:
85 +
86 +* **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
87 +* **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
88 +
89 +== How to Contribute ==
90 +
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: ==
95 +== 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.
100 +
101 +== Who has access? ==
102 +
103 +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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108 +
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110 +
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37 37  {{box title="**Contents**"}}
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38 38  {{toc/}}
39 39  {{/box}}
40 40  
41 -== Main contents: ==
117 +== 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.
123 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
124 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
125 +* [[to-do-list>>to-do-list]]
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