Changes for page Neurodiagnoses

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edited by manuelmenendez
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To version 34.1
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on 2025/02/01 13:54
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5 -= //A new tridimensional diagnostic framework for CNS conditions// =
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 by using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies.
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 8  We aim to create a structured, interpretable, and scalable diagnostic tool.
9 9  )))
10 10  )))
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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 -The //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDDs) are classified by focusing on:
21 21  
22 -* **Axis 1**: Etiology (genetic/sporadic and environmental factors).
23 -* **Axis 2**: Molecular Markers (biomarkers and proteinopathies).
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 +
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).
24 24  * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
25 25  
26 26  This methodology enables:
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29 29  * Integration of incomplete datasets using AI-driven probabilistic modeling.
30 30  * Stratification of patients for personalized treatment.
31 31  
32 -==== **Diagnostic Axes** ====
43 +== **The Role of AI-Powered Annotation** ==
33 33  
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 +
34 34  * (((
35 35  **Axis 1: Etiology**
36 36  
37 37  * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
38 38  * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
39 -* //Tests//: Genetic testing, lifestyle and cardiovascular screening.
64 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
40 40  )))
41 41  * (((
42 42  **Axis 2: Molecular Markers**
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53 53  * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
54 54  )))
55 55  
56 -==== **Case Studies** ====
81 +== **Applications** ==
57 57  
58 -1. (((
59 -**Sporadic Alzheimer’s Disease**:
60 -
61 -* Axis 1: Sporadic (ApoE4, poor sleep habits).
62 -* Axis 2: Amyloid-beta plaques, elevated NFL.
63 -* Axis 3: Right hippocampus atrophy (visual memory loss).
64 -)))
65 -1. (((
66 -**Genetic Parkinson’s Disease**:
67 -
68 -* Axis 1: Genetic (LRRK2 mutation).
69 -* Axis 2: Alpha-synuclein aggregation.
70 -* Axis 3: Substantia nigra degeneration (motor dysfunction).
71 -)))
72 -
73 -==== **Applications** ====
74 -
75 75  This system enhances:
76 76  
77 -* **Research**: By stratifying patients, it reduces cohort heterogeneity in clinical trials.
85 +* **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
78 78  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
79 79  
80 -== Who has access? ==
88 +== How to Contribute ==
81 81  
82 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
83 -
84 -== How to Contribute: ==
85 -
86 86  * Access the `/docs` folder for guidelines.
87 87  * Use `/code` for the latest AI pipelines.
88 88  * Share feedback and ideas in the wiki discussion pages.
89 89  
90 -== Key Objectives: ==
94 +== Key Objectives ==
91 91  
92 92  * Develop interpretable AI models for diagnosis and progression tracking.
93 93  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
94 94  * 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!
95 95  )))
96 96  
97 97  
106 +
107 +
108 +
109 +
98 98  (% class="col-xs-12 col-sm-4" %)
99 99  (((
100 100  {{box title="**Contents**"}}
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101 101  {{toc/}}
102 102  {{/box}}
103 103  
104 -== Main contents: ==
116 +== Main contents ==
105 105  
106 106  * `/docs`: Documentation and contribution guidelines.
107 107  * `/code`: Machine learning pipelines and scripts.
108 108  * `/data`: Sample datasets for testing.
109 109  * `/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]]
110 110  )))
111 111  )))
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