Changes for page Neurodiagnoses
Last modified by manuelmenendez on 2025/03/03 22:46
From version 20.1
edited by manuelmenendez
on 2025/01/28 00:03
on 2025/01/28 00:03
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To version 33.1
edited by manuelmenendez
on 2025/02/01 13:54
on 2025/02/01 13:54
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... ... @@ -2,9 +2,9 @@ 2 2 ((( 3 3 (% class="container" %) 4 4 ((( 5 -= //A new tridimensional diagnostic framework for neurodegenerativediseases// =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 neurodegenerativediseases 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 ))) ... ... @@ -15,18 +15,26 @@ 15 15 ((( 16 16 = What is this about and what can I find here? = 17 17 18 -= =**Overview** ==18 += **Overview** = 19 19 20 -T he //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDD) are classified by focusing on:20 +T 21 21 22 -* **Axis 1**: Etiology (genetic or other causes of diseases). 23 -* **Axis 2**: Molecular Markers (biomarkers). 24 -* **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system). 22 +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. 25 25 24 +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**. 26 26 27 - [[Neurodegenerativediseasescan bestudiedandclassified inatridimensional schemewith threeaxes: anatomic–clinical,molecular, and etiologic.CSF,cerebrospinalfluid;FDG, fluorodeoxyglucose; MRI, magneticresonance imaging; PET,positron emissiontomography.>>image:tridimensional.png||alt="tridimensionalviewof neurodegenerativediseases"]]26 +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**. 28 28 28 +=== **Project Aim** === 29 29 30 +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**. 31 + 32 +The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on: 33 + 34 +* **Axis 1**: Etiology (genetic or other causes of diseases). 35 +* **Axis 2**: Molecular Markers (biomarkers). 36 +* **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system). 37 + 30 30 This methodology enables: 31 31 32 32 * Greater precision in diagnosis. ... ... @@ -33,14 +33,28 @@ 33 33 * Integration of incomplete datasets using AI-driven probabilistic modeling. 34 34 * Stratification of patients for personalized treatment. 35 35 36 -== ** DiagnosticAxes** ==44 +== **The Role of AI-Powered Annotation** == 37 37 46 +To enhance **standardization, interpretability, and clinical application**, the framework integrates **an AI-powered annotation system**, which: 47 + 48 +* **Assigns structured metadata tags** to diagnostic features. 49 +* **Provides real-time contextual explanations** for AI-based classifications. 50 +* **Tracks longitudinal disease progression** using timestamped AI annotations. 51 +* **Improves AI model transparency** through interpretability tools (e.g., SHAP analysis). 52 +* **Facilitates decision-making for clinicians** by linking annotations to standardized biomedical ontologies (SNOMED, HPO). 53 + 54 +== **The case of neurodegenerative diseases** == 55 + 56 +There have been described these 3 diagnostic axes: 57 + 58 +[[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"]] 59 + 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. 65 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening. 44 44 ))) 45 45 * ((( 46 46 **Axis 2: Molecular Markers** ... ... @@ -64,10 +64,6 @@ 64 64 * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials. 65 65 * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking. 66 66 67 -== Who has access? == 68 - 69 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! 70 - 71 71 == How to Contribute == 72 72 73 73 * Access the `/docs` folder for guidelines. ... ... @@ -79,9 +79,17 @@ 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. 81 81 * Foster collaboration among neuroscientists, AI researchers, and clinicians. 100 + 101 +== Who has access? == 102 + 103 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! 82 82 ))) 83 83 84 84 107 + 108 + 109 + 110 + 85 85 (% class="col-xs-12 col-sm-4" %) 86 86 ((( 87 87 {{box title="**Contents**"}} ... ... @@ -94,5 +94,8 @@ 94 94 * `/code`: Machine learning pipelines and scripts. 95 95 * `/data`: Sample datasets for testing. 96 96 * `/outputs`: Generated models, visualizations, and reports. 123 +* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]] 124 +* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]] 125 +* [[to-do-list>>to-do-list]] 97 97 ))) 98 98 )))