Changes for page Neurodiagnoses

Last modified by manuelmenendez on 2025/03/03 22:46
From version 26.1
edited by manuelmenendez
on 2025/01/29 18:48
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To version 7.1
edited by manuelmenendez
on 2025/01/27 23:21
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4 4  (((
5 -= //A new tridimensional diagnostic framework for CNS diseases// =
5 += //A new tridimensional diagnostic framework for CNS conditions// =
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.
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.
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 CNS diseases can be classified and diagnosed by focusing on:
20 +The //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDDs) are classified by focusing on:
21 21  
22 -* **Axis 1**: Etiology (genetic or other causes of diseases).
23 -* **Axis 2**: Molecular Markers (biomarkers).
22 +* **Axis 1**: Etiology (genetic/sporadic and environmental factors).
23 +* **Axis 2**: Molecular Markers (biomarkers and proteinopathies).
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 -== **The case of neurodegenerative diseases** ==
32 +==== **Diagnostic Axes** ====
33 33  
34 -There have been described these 3 diagnostic axes:
35 -
36 -[[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"]]
37 -
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.
39 +* //Tests//: Genetic testing, lifestyle and cardiovascular screening.
44 44  )))
45 45  * (((
46 46  **Axis 2: Molecular Markers**
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57 57  * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
58 58  )))
59 59  
60 -== **Applications** ==
56 +==== **Case Studies** ====
61 61  
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 +
62 62  This system enhances:
63 63  
64 -* **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
77 +* **Research**: By stratifying patients, it reduces cohort heterogeneity in clinical trials.
65 65  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
66 66  
67 67  == Who has access? ==
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68 68  
69 69  We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
70 70  
71 -== How to Contribute ==
84 +== How to Contribute: ==
72 72  
73 73  * Access the `/docs` folder for guidelines.
74 74  * Use `/code` for the latest AI pipelines.
75 75  * Share feedback and ideas in the wiki discussion pages.
76 76  
77 -== Key Objectives ==
90 +== Key Objectives: ==
78 78  
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.
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82 82  )))
83 83  
84 84  
85 -
86 -
87 87  (% class="col-xs-12 col-sm-4" %)
88 88  (((
89 89  {{box title="**Contents**"}}
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90 90  {{toc/}}
91 91  {{/box}}
92 92  
93 -== Main contents ==
104 +== Main contents: ==
94 94  
95 95  * `/docs`: Documentation and contribution guidelines.
96 96  * `/code`: Machine learning pipelines and scripts.
97 97  * `/data`: Sample datasets for testing.
98 98  * `/outputs`: Generated models, visualizations, and reports.
99 -* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
100 -* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
101 -* [[to-do-list>>to-do-list]]
102 102  )))
103 103  )))
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