Changes for page Neurodiagnoses
Last modified by manuelmenendez on 2025/03/03 22:46
From version 13.1
edited by manuelmenendez
on 2025/01/27 23:54
on 2025/01/27 23:54
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To version 35.1
edited by manuelmenendez
on 2025/02/02 00:48
on 2025/02/02 00:48
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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 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 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 ))) ... ... @@ -15,12 +15,23 @@ 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). 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. **Neurodegenerative and psychiatric disorders**, for example, exhibit significant **clinical overlap, co-pathology, and heterogeneity**, making current diagnostic models insufficient. 22 + 23 +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**. 24 + 25 +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**. 26 + 27 +=== **Project Aim** === 28 + 29 +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**. 30 + 31 +The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on: 32 + 33 +* **Axis 1**: Etiology (genetic or other causes of diseases). 34 +* **Axis 2**: Molecular Markers (biomarkers). 24 24 * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system). 25 25 26 26 This methodology enables: ... ... @@ -29,14 +29,28 @@ 29 29 * Integration of incomplete datasets using AI-driven probabilistic modeling. 30 30 * Stratification of patients for personalized treatment. 31 31 32 -== ** DiagnosticAxes** ==43 +== **The Role of AI-Powered Annotation** == 33 33 45 +To enhance **standardization, interpretability, and clinical application**, the framework integrates **an AI-powered annotation system**, which: 46 + 47 +* **Assigns structured metadata tags** to diagnostic features. 48 +* **Provides real-time contextual explanations** for AI-based classifications. 49 +* **Tracks longitudinal disease progression** using timestamped AI annotations. 50 +* **Improves AI model transparency** through interpretability tools (e.g., SHAP analysis). 51 +* **Facilitates decision-making for clinicians** by linking annotations to standardized biomedical ontologies (SNOMED, HPO). 52 + 53 +== **The case of neurodegenerative diseases** == 54 + 55 +There have been described these 3 diagnostic axes: 56 + 57 +[[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"]] 58 + 34 34 * ((( 35 35 **Axis 1: Etiology** 36 36 37 37 * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers. 38 38 * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression. 39 -* //Tests//: Genetic testing, lifestyle and cardiovascular screening. 64 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening. 40 40 ))) 41 41 * ((( 42 42 **Axis 2: Molecular Markers** ... ... @@ -60,10 +60,6 @@ 60 60 * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials. 61 61 * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking. 62 62 63 -== Who has access? == 64 - 65 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! 66 - 67 67 == How to Contribute == 68 68 69 69 * Access the `/docs` folder for guidelines. ... ... @@ -75,9 +75,17 @@ 75 75 * Develop interpretable AI models for diagnosis and progression tracking. 76 76 * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources. 77 77 * Foster collaboration among neuroscientists, AI researchers, and clinicians. 99 + 100 +== Who has access? == 101 + 102 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! 78 78 ))) 79 79 80 80 106 + 107 + 108 + 109 + 81 81 (% class="col-xs-12 col-sm-4" %) 82 82 ((( 83 83 {{box title="**Contents**"}} ... ... @@ -90,5 +90,9 @@ 90 90 * `/code`: Machine learning pipelines and scripts. 91 91 * `/data`: Sample datasets for testing. 92 92 * `/outputs`: Generated models, visualizations, and reports. 122 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]] 123 +* [[Notebooks>>Notebooks]] 124 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]] 125 +* [[to-do-list>>to-do-list]] 93 93 ))) 94 94 )))
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