Changes for page Neurodiagnoses
Last modified by manuelmenendez on 2025/03/03 22:46
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edited by manuelmenendez
on 2025/02/05 11:14
on 2025/02/05 11:14
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To version 23.1
edited by manuelmenendez
on 2025/01/29 18:46
on 2025/01/29 18:46
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... ... @@ -2,9 +2,9 @@ 2 2 ((( 3 3 (% class="container" %) 4 4 ((( 5 -= //A new tridimensional diagnostic framework for complexCNS diseases// =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 complexCNS 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 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 ))) ... ... @@ -15,55 +15,27 @@ 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 20 21 -The classification and diagnosis of central nervous system (CNS) diseases have long been constrained by traditional, phenotype-based approaches that often fail to capture the complex interplay of pathophysiological mechanisms, molecular biomarkers, and neuroanatomical changes. Neurodiagnoses redefines this landscape by integrating advanced AI with multi-modal data—including genetics, neuroimaging, biomarkers, and digital health records—to create a more precise, scalable, and data-driven diagnostic system. 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 22 23 - In additionto these clinical diagnosticapproaches,Neurodiagnoseshasexpanded intoa research-orientedplatformthroughtheintegration of **CNS DigitalTwins**. Thiscutting-edgeconcept involvescreatingapersonalizeddigital replicaof a patient’sCNSby incorporatingmulti-omicsdata(proteomics,genomics,lipidomics,transcriptomics),variousuroimagingmodalities, anddigitalhealth information. These digital twins enable simulations ofdisease progression, supporthediscoveryof novel biomarkers, andhelp identify new therapeutictargets.26 +[[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"]] 24 24 25 -On this page, you will find: 26 26 27 -* Detailed descriptions of both the clinical diagnostic tools and the research framework. 28 -* Access to our AI models, data processing pipelines, and digital twin simulations. 29 -* Collaborative resources for researchers, clinicians, and AI developers. 30 -* Guidelines and instructions on how to contribute to and expand the project. 29 +This methodology enables: 31 31 31 +* Greater precision in diagnosis. 32 +* Integration of incomplete datasets using AI-driven probabilistic modeling. 33 +* Stratification of patients for personalized treatment. 32 32 33 -== **The role of AI-powered annotation** == 34 - 35 -To enhance standardization, interpretability, and clinical application, the framework integrates an AI-powered annotation system, which: 36 - 37 -* Assign structured metadata tags to diagnostic features. 38 -* Provides real-time contextual explanations for AI-based classifications. 39 -* Tracks longitudinal disease progression using timestamped AI annotations. 40 -* Improves AI model transparency through interpretability tools (e.g., SHAP analysis). 41 -* Facilitates decision-making for clinicians by linking annotations to standardized biomedical ontologies (SNOMED, HPO). 42 - 43 -Neurodiagnoses provides two complementary AI-driven diagnostic approaches: 44 - 45 -1. Traditional Probabilistic Diagnosis 46 - 47 -* AI provides multiple possible diagnoses, each assigned a probability percentage based on biomarker, imaging, and clinical data. 48 -* Useful for differential diagnosis and treatment decision-making. 49 - 50 -2. Tridimensional Diagnosis 51 - 52 -* Diagnoses are structured based on: 53 -(1) Etiology (genetic, autoimmune, metabolic, infectious) 54 -(2) Molecular Biomarkers (amyloid-beta, tau, inflammatory markers, EEG patterns) 55 -(3) Neuroanatomoclinical Correlations (brain atrophy, connectivity alterations) 56 -* This approach enables precise disease subtyping and biologically meaningful classification, particularly useful for tracking progression over time. 57 - 58 -Both systems will be offered for every patient case, allowing clinicians to compare AI-generated probabilistic diagnosis with a structured tridimensional classification. 59 - 60 - 61 61 == **The case of neurodegenerative diseases** == 62 62 63 63 There have been described these 3 diagnostic axes: 64 64 65 -[[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"]] 66 - 67 67 * ((( 68 68 **Axis 1: Etiology** 69 69 ... ... @@ -70,8 +70,6 @@ 70 70 * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers. 71 71 * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression. 72 72 * //Tests//: Genetic testing, lifestyle, and cardiovascular screening. 73 - 74 - 75 75 ))) 76 76 * ((( 77 77 **Axis 2: Molecular Markers** ... ... @@ -79,8 +79,6 @@ 79 79 * //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression. 80 80 * //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology. 81 81 * //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET). 82 - 83 - 84 84 ))) 85 85 * ((( 86 86 **Axis 3: Neuroanatomoclinical** ... ... @@ -97,6 +97,10 @@ 97 97 * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials. 98 98 * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking. 99 99 68 +== Who has access? == 69 + 70 +We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! 71 + 100 100 == How to Contribute == 101 101 102 102 * Access the `/docs` folder for guidelines. ... ... @@ -108,20 +108,9 @@ 108 108 * Develop interpretable AI models for diagnosis and progression tracking. 109 109 * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources. 110 110 * Foster collaboration among neuroscientists, AI researchers, and clinicians. 111 -* Provide a dual diagnostic system: 112 -** Probabilistic Diagnosis – AI assigns multiple traditional possible diagnoses with probability percentages. 113 -** Tridimensional Diagnosis – AI structures diagnoses based on etiology, biomarkers, and neuroanatomical correlations. 114 - 115 -== Who has access? == 116 - 117 -We welcome contributions from the global community. Join us as we transform CNS diagnostics and drive precision medicine forward through a collaborative, open-source approach. Let’s build the future of neurological diagnostics together! 118 118 ))) 119 119 120 120 121 - 122 - 123 - 124 - 125 125 (% class="col-xs-12 col-sm-4" %) 126 126 ((( 127 127 {{box title="**Contents**"}} ... ... @@ -135,7 +135,6 @@ 135 135 * `/data`: Sample datasets for testing. 136 136 * `/outputs`: Generated models, visualizations, and reports. 137 137 * [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]] 138 -* [[Notebooks>>Notebooks]] 139 139 * [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]] 140 140 * [[to-do-list>>to-do-list]] 141 141 )))