Changes for page Neurodiagnoses

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edited by manuelmenendez
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To version 4.5
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5 -= //A new tridimensional diagnostic framework for CNS diseases// =
5 += Neurodiagnoses =
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.
8 -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 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.
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11 11  
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16 -= What is this about and what can I find here? =
15 += What can I find here? =
17 17  
18 -= **Overview** =
17 +* `/docs`: Documentation and contribution guidelines.
18 +* `/code`: Machine learning pipelines and scripts.
19 +* `/data`: Sample datasets for testing. - `/outputs`: Generated models, visualizations, and reports.
19 19  
21 += Who has access? =
20 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.
23 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
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**.
25 +== How to Contribute: ==
24 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 -
90 90  * Access the `/docs` folder for guidelines.
91 91  * Use `/code` for the latest AI pipelines.
92 92  * Share feedback and ideas in the wiki discussion pages.
93 -
94 -== Key Objectives ==
95 -
96 -* Develop interpretable AI models for diagnosis and progression tracking.
97 -* Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
98 -* 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!
103 103  )))
104 104  
105 105  
106 -
107 -
108 -
109 -
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112 112  {{box title="**Contents**"}}
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113 113  {{toc/}}
114 114  {{/box}}
115 115  
116 -== Main contents ==
39 +== Key Objectives: ==
117 117  
118 -* `/docs`: Documentation and contribution guidelines.
119 -* `/code`: Machine learning pipelines and scripts.
120 -* `/data`: Sample datasets for testing.
121 -* `/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]]
41 +* Develop interpretable AI models for diagnosis and progression tracking.
42 +* Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
43 +* Foster collaboration among neuroscientists, AI researchers, and clinicians.
44 +
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