Summary

• Page properties (1 modified, 0 added, 0 removed)

Details

Page properties

Content

...	...	@@ -17,17 +17,10 @@
17	17
18	18	= **Overview** =
19	19
	20	+The classification and diagnosis of central nervous system (CNS) diseases have long been constrained by traditional phenotypic approaches that fail to capture the underlying pathophysiological mechanisms, molecular biomarkers, and neuroanatomical changes that drive disease progression. For instance, neurodegenerative and psychiatric disorders exhibit significant clinical overlap, co-pathology, and heterogeneity, a new diagnostic framework is urgently needed—one that shifts from symptom-based classifications toward an etiology-driven, tridimensional system integrating genetics, proteomics, neuroimaging, and computational modeling. By leveraging AI, multi-modal biomarkers, and precision medicine, this framework aims to provide a more objective, scalable, and biologically grounded approach to diagnosing and managing CNS diseases, ultimately leading to earlier detection, personalized interventions, and improved patient outcomes.
20	20
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	+The project aims to develop a tridimensional diagnostic framework with an AI-powered annotation system, integrating etiology, molecular biomarkers, and neuroanatomoclinical correlations for precise and scalable CNS disease diagnostics.
22	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	31	The //Tridimensional Diagnostic Framework// redefines CNS diseases can be classified and diagnosed by focusing on:
32	32
33	33	* **Axis 1**: Etiology (genetic or other causes of diseases).
...	...	@@ -40,16 +40,6 @@
40	40	* Integration of incomplete datasets using AI-driven probabilistic modeling.
41	41	* Stratification of patients for personalized treatment.
42	42
43		-== **The Role of AI-Powered Annotation** ==
44		-
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	53	== **The case of neurodegenerative diseases** ==
54	54
55	55	There have been described these 3 diagnostic axes:
...	...	@@ -62,8 +62,6 @@
62	62	* //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers.
63	63	* //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression.
64	64	* //Tests//: Genetic testing, lifestyle, and cardiovascular screening.
65		-
66		-
67	67	)))
68	68	* (((
69	69	**Axis 2: Molecular Markers**
...	...	@@ -71,8 +71,6 @@
71	71	* //Description//: Analyzes primary (amyloid-beta, tau) and secondary biomarkers (NFL, GFAP) for tracking disease progression.
72	72	* //Examples//: CSF amyloid-beta concentrations to confirm Alzheimer’s pathology.
73	73	* //Tests//: Blood/CSF biomarkers, PET imaging (Tau-PET, Amyloid-PET).
74		-
75		-
76	76	)))
77	77	* (((
78	78	**Axis 3: Neuroanatomoclinical**
...	...	@@ -89,6 +89,10 @@
89	89	* **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials.
90	90	* **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking.
91	91
	71	+== Who has access? ==
	72	+
	73	+We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
	74	+
92	92	== How to Contribute ==
93	93
94	94	* Access the `/docs` folder for guidelines.
...	...	@@ -100,10 +100,6 @@
100	100	* Develop interpretable AI models for diagnosis and progression tracking.
101	101	* Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources.
102	102	* Foster collaboration among neuroscientists, AI researchers, and clinicians.
103		-
104		-== Who has access? ==
105		-
106		-We welcome contributions from the global community. Let’s build the future of neurological diagnostics together!
107	107	)))
108	108
109	109
...	...	@@ -110,7 +110,6 @@
110	110
111	111
112	112
113		-
114	114	(% class="col-xs-12 col-sm-4" %)
115	115	(((
116	116	{{box title="**Contents**"}}
...	...	@@ -124,7 +124,6 @@
124	124	* `/data`: Sample datasets for testing.
125	125	* `/outputs`: Generated models, visualizations, and reports.
126	126	* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]]
127		-* [[Notebooks>>Notebooks]]
128	128	* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]]
129	129	* [[to-do-list>>to-do-list]]
130	130	)))