Changes for page Neurodiagnoses

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

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edited by manuelmenendez
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edited by manuelmenendez
on 2025/02/01 13:54
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5 -= //A new tridimensional diagnostic framework for neurodegenerative 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 neurodegenerative 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.
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10 10  )))
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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 (NDD) are classified by focusing on:
21 21  
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 +
22 22  * **Axis 1**: Etiology (genetic or other causes of diseases).
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 -[[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"]]
27 -
28 -
29 29  This methodology enables:
30 30  
31 31  * Greater precision in diagnosis.
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32 32  * Integration of incomplete datasets using AI-driven probabilistic modeling.
33 33  * Stratification of patients for personalized treatment.
34 34  
35 -== **Diagnostic Axes** ==
43 +== **The Role of AI-Powered Annotation** ==
36 36  
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 +
37 37  * (((
38 38  **Axis 1: Etiology**
39 39  
40 40  * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
41 41  * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
42 -* //Tests//: Genetic testing, lifestyle and cardiovascular screening.
64 +* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
43 43  )))
44 44  * (((
45 45  **Axis 2: Molecular Markers**
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63 63  * **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
64 64  * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
65 65  
66 -== Who has access? ==
67 -
68 -We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
69 -
70 70  == How to Contribute ==
71 71  
72 72  * Access the `/docs` folder for guidelines.
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78 78  * Develop interpretable AI models for diagnosis and progression tracking.
79 79  * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
80 80  * 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!
81 81  )))
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86 86  {{box title="**Contents**"}}