Changes for page Neurodiagnoses

Last modified by manuelmenendez on 2025/03/03 22:46
From version 6.1
edited by manuelmenendez
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To version 33.1
edited by manuelmenendez
on 2025/02/01 13:54
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2 2  (((
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4 4  (((
5 -= **Neurodiagnoses**
6 -//A new tridimensional diagnostic framework for CNS conditions// =
5 += //A new tridimensional diagnostic framework for CNS diseases// =
7 7  
8 -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.
9 9  We aim to create a structured, interpretable, and scalable diagnostic tool.
10 10  )))
11 11  )))
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16 16  (((
17 17  = What is this about and what can I find here? =
18 18  
19 -==== **Overview** ====
18 += **Overview** =
20 20  
21 -The //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDDs) are classified by focusing on:
20 +T
22 22  
23 -* **Axis 1**: Etiology (genetic/sporadic and environmental factors).
24 -* **Axis 2**: Molecular Markers (biomarkers and proteinopathies).
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.
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).
25 25  * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
26 26  
27 27  This methodology enables:
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30 30  * Integration of incomplete datasets using AI-driven probabilistic modeling.
31 31  * Stratification of patients for personalized treatment.
32 32  
33 -==== **Diagnostic Axes** ====
44 +== **The Role of AI-Powered Annotation** ==
34 34  
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 +
35 35  * (((
36 36  **Axis 1: Etiology**
37 37  
38 38  * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
39 39  * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
40 -* //Tests//: Genetic testing, lifestyle and cardiovascular screening.
65 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
41 41  )))
42 42  * (((
43 43  **Axis 2: Molecular Markers**
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54 54  * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
55 55  )))
56 56  
57 -==== **Case Studies** ====
82 +== **Applications** ==
58 58  
59 -1. (((
60 -**Sporadic Alzheimer’s Disease**:
61 -
62 -* Axis 1: Sporadic (ApoE4, poor sleep habits).
63 -* Axis 2: Amyloid-beta plaques, elevated NFL.
64 -* Axis 3: Right hippocampus atrophy (visual memory loss).
65 -)))
66 -1. (((
67 -**Genetic Parkinson’s Disease**:
68 -
69 -* Axis 1: Genetic (LRRK2 mutation).
70 -* Axis 2: Alpha-synuclein aggregation.
71 -* Axis 3: Substantia nigra degeneration (motor dysfunction).
72 -)))
73 -
74 -==== **Applications** ====
75 -
76 76  This system enhances:
77 77  
78 -* **Research**: By stratifying patients, it reduces cohort heterogeneity in clinical trials.
86 +* **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
79 79  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
80 80  
81 -== Who has access? ==
89 +== How to Contribute ==
82 82  
83 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
84 -
85 -== How to Contribute: ==
86 -
87 87  * Access the `/docs` folder for guidelines.
88 88  * Use `/code` for the latest AI pipelines.
89 89  * Share feedback and ideas in the wiki discussion pages.
90 90  
91 -== Key Objectives: ==
95 +== Key Objectives ==
92 92  
93 93  * Develop interpretable AI models for diagnosis and progression tracking.
94 94  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
95 95  * 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!
96 96  )))
97 97  
98 98  
107 +
108 +
109 +
110 +
99 99  (% class="col-xs-12 col-sm-4" %)
100 100  (((
101 101  {{box title="**Contents**"}}
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102 102  {{toc/}}
103 103  {{/box}}
104 104  
105 -== Main contents: ==
117 +== Main contents ==
106 106  
107 107  * `/docs`: Documentation and contribution guidelines.
108 108  * `/code`: Machine learning pipelines and scripts.
109 109  * `/data`: Sample datasets for testing.
110 110  * `/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]]
111 111  )))
112 112  )))
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