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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on 2025/01/29 18:53
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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 +The classification and diagnosis of central nervous system (CNS) diseases have long been constrained by traditional phenotypic approaches that fail to capture the underlying pathophysiological mechanisms, molecular biomarkers, and neuroanatomical changes that drive disease progression. For instance, neurodegenerative and psychiatric disorders exhibit significant clinical overlap, co-pathology, and heterogeneity, a new diagnostic framework is urgently needed—one that shifts from symptom-based classifications toward an etiology-driven, tridimensional system integrating genetics, proteomics, neuroimaging, and computational modeling. By leveraging AI, multi-modal biomarkers, and precision medicine, this framework aims to provide a more objective, scalable, and biologically grounded approach to diagnosing and managing CNS diseases, ultimately leading to earlier detection, personalized interventions, and improved patient outcomes.
22 22  
23 -* **Axis 1**: Etiology (genetic/sporadic and environmental factors).
24 -* **Axis 2**: Molecular Markers (biomarkers and proteinopathies).
22 +The project aims to develop a tridimensional diagnostic framework with an AI-powered annotation system, integrating etiology, molecular biomarkers, and neuroanatomoclinical correlations for precise and scalable CNS disease diagnostics.
23 +
24 +The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
25 +
26 +* **Axis 1**: Etiology (genetic or other causes of diseases).
27 +* **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** ====
36 +== **The case of neurodegenerative diseases** ==
34 34  
38 +There have been described these 3 diagnostic axes:
39 +
40 +[[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"]]
41 +
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.
47 +* //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** ====
64 +== **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.
68 +* **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 81  == Who has access? ==
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82 82  
83 83  We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
84 84  
85 -== How to Contribute: ==
75 +== How to Contribute ==
86 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: ==
81 +== 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.
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96 96  )))
97 97  
98 98  
89 +
90 +
91 +
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: ==
98 +== 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.
104 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
105 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
106 +* [[to-do-list>>to-do-list]]
111 111  )))
112 112  )))
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