Changes for page Neurodiagnoses

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

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edited by manuelmenendez
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edited by manuelmenendez
on 2025/02/02 00:48
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2 2  (((
3 3  (% class="container" %)
4 4  (((
5 -= //A new tridimensional diagnostic framework for neurodegenerative diseases// =
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 neurodegenerative 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 (NDD) are classified by focusing on:
21 21  
22 -* **Axis 1**: Etiology (genetic or other causes of diseases).
23 -* **Axis 2**: Molecular Markers (biomarkers).
24 -* **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
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.
25 25  
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**.
26 26  
27 -[[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"]]
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**.
28 28  
27 +=== **Project Aim** ===
29 29  
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 +
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  
36 -== **Diagnostic Axes** ==
43 +== **The Role of AI-Powered Annotation** ==
37 37  
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 +
38 38  * (((
39 39  **Axis 1: Etiology**
40 40  
41 41  * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
42 42  * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
43 -* //Tests//: Genetic testing, lifestyle and cardiovascular screening.
64 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
44 44  )))
45 45  * (((
46 46  **Axis 2: Molecular Markers**
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64 64  * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
65 65  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
66 66  
67 -== Who has access? ==
68 -
69 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
70 -
71 71  == How to Contribute ==
72 72  
73 73  * Access the `/docs` folder for guidelines.
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79 79  * Develop interpretable AI models for diagnosis and progression tracking.
80 80  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
81 81  * 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!
82 82  )))
83 83  
84 84  
106 +
107 +
108 +
109 +
85 85  (% class="col-xs-12 col-sm-4" %)
86 86  (((
87 87  {{box title="**Contents**"}}
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94 94  * `/code`: Machine learning pipelines and scripts.
95 95  * `/data`: Sample datasets for testing.
96 96  * `/outputs`: Generated models, visualizations, and reports.
122 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
123 +* [[Notebooks>>Notebooks]]
124 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
125 +* [[to-do-list>>to-do-list]]
97 97  )))
98 98  )))