Changes for page Neurodiagnoses

Last modified by manuelmenendez on 2025/03/03 22:46
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To version 5.1
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on 2025/01/27 23:04
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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 +== Who has access? ==
19 19  
20 -T
19 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
21 21  
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.
21 +== How to Contribute: ==
23 23  
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 -
91 91  * Access the `/docs` folder for guidelines.
92 92  * Use `/code` for the latest AI pipelines.
93 93  * Share feedback and ideas in the wiki discussion pages.
94 94  
95 -== Key Objectives ==
27 +== Key Objectives: ==
96 96  
97 97  * Develop interpretable AI models for diagnosis and progression tracking.
98 98  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
99 99  * 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!
104 104  )))
105 105  
106 106  
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108 -
109 -
110 -
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113 113  {{box title="**Contents**"}}
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114 114  {{toc/}}
115 115  {{/box}}
116 116  
117 -== Main contents ==
41 +== Main contents: ==
118 118  
119 119  * `/docs`: Documentation and contribution guidelines.
120 120  * `/code`: Machine learning pipelines and scripts.
121 121  * `/data`: Sample datasets for testing.
122 122  * `/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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127 127  )))
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