Changes for page Neurodiagnoses

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

From version 24.1
edited by manuelmenendez
on 2025/01/29 18:46
Change comment: There is no comment for this version
To version 40.1
edited by manuelmenendez
on 2025/02/02 15:12
Change comment: There is no comment for this version

Summary

Details

Page properties
Content
... ... @@ -2,9 +2,9 @@
2 2  (((
3 3  (% class="container" %)
4 4  (((
5 -= //A new tridimensional diagnostic framework for CNS diseases// =
5 += //A new tridimensional diagnostic framework for complex CNS diseases// =
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 complex 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  )))
... ... @@ -15,8 +15,13 @@
15 15  (((
16 16  = What is this about and what can I find here? =
17 17  
18 -== **Overview** ==
18 += **Overview** =
19 19  
20 +
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.
22 +
23 +Neurodiagnoses is an open-source AI-powered diagnostic system designed for complex CNS disorders, including neurodegenerative diseases, autoimmune encephalopathies, prion disorders, and genetic syndromes. 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.
24 +
20 20  The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
21 21  
22 22  * **Axis 1**: Etiology (genetic or other causes of diseases).
... ... @@ -23,10 +23,6 @@
23 23  * **Axis 2**: Molecular Markers (biomarkers).
24 24  * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
25 25  
26 -
27 -[[For instance, 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"]]
28 -
29 -
30 30  This methodology enables:
31 31  
32 32  * Greater precision in diagnosis.
... ... @@ -33,10 +33,44 @@
33 33  * Integration of incomplete datasets using AI-driven probabilistic modeling.
34 34  * Stratification of patients for personalized treatment.
35 35  
37 +== **The Role of AI-Powered Annotation** ==
38 +
39 +To enhance standardization, interpretability, and clinical application, the framework integrates an AI-powered annotation system, which:
40 +
41 +* Assigns structured metadata tags to diagnostic features.
42 +* Provides real-time contextual explanations for AI-based classifications.
43 +* Tracks longitudinal disease progression using timestamped AI annotations.
44 +* Improves AI model transparency through interpretability tools (e.g., SHAP analysis).
45 +* Facilitates decision-making for clinicians by linking annotations to standardized biomedical ontologies (SNOMED, HPO).
46 +
47 +Neurodiagnoses provides two complementary AI-driven diagnostic approaches:
48 +
49 +1. Traditional Probabilistic Diagnosis
50 +
51 +* AI provides multiple possible diagnoses, each assigned a probability percentage based on biomarker, imaging, and clinical data.
52 +* Example Output:
53 +** 75% Alzheimer's Disease
54 +** 20% Lewy Body Dementia
55 +** 5% Vascular Dementia
56 +* Useful for differential diagnosis and treatment decision-making.
57 +
58 +2. Tridimensional Diagnosis
59 +
60 +* Diagnoses are structured based on:
61 +(1) Etiology (genetic, autoimmune, metabolic, infectious)
62 +(2) Molecular Biomarkers (amyloid-beta, tau, inflammatory markers, EEG patterns)
63 +(3) Neuroanatomoclinical Correlations (brain atrophy, connectivity alterations)
64 +* This approach enables precise disease subtyping and biologically meaningful classification, particularly useful to track progression over time.
65 +
66 +For every patient case, both systems will be offered, allowing clinicians to compare AI-generated probabilistic diagnosis with a structured tridimensional classification.
67 +
68 +
36 36  == **The case of neurodegenerative diseases** ==
37 37  
38 38  There have been described these 3 diagnostic axes:
39 39  
73 +[[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"]]
74 +
40 40  * (((
41 41  **Axis 1: Etiology**
42 42  
... ... @@ -43,6 +43,8 @@
43 43  * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
44 44  * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
45 45  * //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
81 +
82 +
46 46  )))
47 47  * (((
48 48  **Axis 2: Molecular Markers**
... ... @@ -50,6 +50,8 @@
50 50  * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
51 51  * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
52 52  * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
90 +
91 +
53 53  )))
54 54  * (((
55 55  **Axis 3: Neuroanatomoclinical**
... ... @@ -66,10 +66,6 @@
66 66  * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
67 67  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
68 68  
69 -== Who has access? ==
70 -
71 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
72 -
73 73  == How to Contribute ==
74 74  
75 75  * Access the `/docs` folder for guidelines.
... ... @@ -81,9 +81,17 @@
81 81  * Develop interpretable AI models for diagnosis and progression tracking.
82 82  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
83 83  * Foster collaboration among neuroscientists, AI researchers, and clinicians.
119 +
120 +== Who has access? ==
121 +
122 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
84 84  )))
85 85  
86 86  
126 +
127 +
128 +
129 +
87 87  (% class="col-xs-12 col-sm-4" %)
88 88  (((
89 89  {{box title="**Contents**"}}
... ... @@ -97,6 +97,7 @@
97 97  * `/data`: Sample datasets for testing.
98 98  * `/outputs`: Generated models, visualizations, and reports.
99 99  * [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
143 +* [[Notebooks>>Notebooks]]
100 100  * [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
101 101  * [[to-do-list>>to-do-list]]
102 102  )))