Changes for page Neurodiagnoses
Last modified by manuelmenendez on 2025/03/03 22:46
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edited by manuelmenendez
on 2025/01/27 23:58
on 2025/01/27 23:58
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To version 41.1
edited by manuelmenendez
on 2025/02/02 15:13
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... ... @@ -2,9 +2,9 @@ 2 2 ((( 3 3 (% class="container" %) 4 4 ((( 5 -= //A new tridimensional diagnostic framework for CNS conditions// =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 neurologicaldiseases 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 ))) ... ... @@ -15,16 +15,19 @@ 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 (NDDs) are classified by focusing on: 21 21 22 -* **Axis 1**: Etiology (genetic/sporadic and environmental factors). 23 -* **Axis 2**: Molecular Markers (biomarkers and proteinopathies). 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. 25 25 26 - [[Neurodegenerativediseasescanbetudied andclassifiedina tridimensional scheme withthree axes:anatomic–clinical,molecular, and etiologic.CSF, cerebrospinalfluid;FDG,fluorodeoxyglucose;MRI, magnetic resonance imaging;PET,positron emission tomography.>>image:tridimensional.png||alt="tridimensionalviewofneurodegenerative diseases"]]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. 27 27 25 +The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on: 26 + 27 +* **Axis 1**: Etiology (genetic or other causes of diseases). 28 +* **Axis 2**: Molecular Markers (biomarkers). 29 +* **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system). 30 + 28 28 This methodology enables: 29 29 30 30 * Greater precision in diagnosis. ... ... @@ -31,14 +31,52 @@ 31 31 * Integration of incomplete datasets using AI-driven probabilistic modeling. 32 32 * Stratification of patients for personalized treatment. 33 33 34 -== ** Diagnostic Axes** ==37 +== **The role of AI-powered annotation** == 35 35 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 + 69 +== **The case of neurodegenerative diseases** == 70 + 71 +There have been described these 3 diagnostic axes: 72 + 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 + 36 36 * ((( 37 37 **Axis 1: Etiology** 38 38 39 39 * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers. 40 40 * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression. 41 -* //Tests//: Genetic testing, lifestyle and cardiovascular screening. 80 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening. 81 + 82 + 42 42 ))) 43 43 * ((( 44 44 **Axis 2: Molecular Markers** ... ... @@ -46,6 +46,8 @@ 46 46 * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression. 47 47 * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology. 48 48 * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET). 90 + 91 + 49 49 ))) 50 50 * ((( 51 51 **Axis 3: Neuroanatomoclinical** ... ... @@ -62,10 +62,6 @@ 62 62 * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials. 63 63 * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking. 64 64 65 -== Who has access? == 66 - 67 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! 68 - 69 69 == How to Contribute == 70 70 71 71 * Access the `/docs` folder for guidelines. ... ... @@ -77,9 +77,17 @@ 77 77 * Develop interpretable AI models for diagnosis and progression tracking. 78 78 * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources. 79 79 * 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! 80 80 ))) 81 81 82 82 126 + 127 + 128 + 129 + 83 83 (% class="col-xs-12 col-sm-4" %) 84 84 ((( 85 85 {{box title="**Contents**"}} ... ... @@ -92,5 +92,9 @@ 92 92 * `/code`: Machine learning pipelines and scripts. 93 93 * `/data`: Sample datasets for testing. 94 94 * `/outputs`: Generated models, visualizations, and reports. 142 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]] 143 +* [[Notebooks>>Notebooks]] 144 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]] 145 +* [[to-do-list>>to-do-list]] 95 95 ))) 96 96 )))