Wiki source code of Neurodiagnoses

Version 21.1 by manuelmenendez on 2025/01/28 00:30

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17.1	5	= //A new tridimensional diagnostic framework for neurodegenerative diseases// =
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19.1	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.
6.1	8	We aim to create a structured, interpretable, and scalable diagnostic tool.
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6.1	16	= What is this about and what can I find here? =
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9.1	18	== Overview ==
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17.1	20	The //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDD) are classified by focusing on:
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16.1	22	* Axis 1: Etiology (genetic or other causes of diseases).
	23	* Axis 2: Molecular Markers (biomarkers).
6.1	24	* Axis 3: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system).
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14.1	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"]]
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6.1	29	This methodology enables:
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	31	* Greater precision in diagnosis.
	32	* Integration of incomplete datasets using AI-driven probabilistic modeling.
	33	* Stratification of patients for personalized treatment.
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9.1	35	== Diagnostic Axes ==
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	37	* (((
	38	Axis 1: Etiology
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	40	* //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
	41	* //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
	42	* //Tests//: Genetic testing, lifestyle and cardiovascular screening.
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	44	* (((
	45	Axis 2: Molecular Markers
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	47	* //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
	48	* //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
	49	* //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
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	51	* (((
	52	Axis 3: Neuroanatomoclinical
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	54	* //Description//: Links clinical symptoms to neuroanatomical changes, such as atrophy or functional impairments.
	55	* //Examples//: Hippocampal atrophy correlating with memory deficits.
	56	* //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations.
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9.1	59	== Applications ==
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	61	This system enhances:
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7.2	63	* Research: By stratifying patients, reduces cohort heterogeneity in clinical trials.
6.1	64	* Clinical Practice: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
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5.1	66	== Who has access? ==
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4.2	68	We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
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10.1	70	== How to Contribute ==
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	72	* Access the `/docs` folder for guidelines.
	73	* Use `/code` for the latest AI pipelines.
	74	* Share feedback and ideas in the wiki discussion pages.
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10.1	76	== Key Objectives ==
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	78	* Develop interpretable AI models for diagnosis and progression tracking.
	79	* Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
	80	* Foster collaboration among neuroscientists, AI researchers, and clinicians.
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	86	{{box title="Contents"}}
	87	{{toc/}}
	88	{{/box}}
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10.1	90	== Main contents ==
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5.1	92	* `/docs`: Documentation and contribution guidelines.
	93	* `/code`: Machine learning pipelines and scripts.
	94	* `/data`: Sample datasets for testing.
	95	* `/outputs`: Generated models, visualizations, and reports.
21.1	96	* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
	97	* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
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