About
The Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work” focuses on Kleefstra syndrome, a rare genetic disorder with app. 1000 diagnosed patients worldwide. Due to the rarity of the disease, a global perspective is needed to foster new research insights. The event brings together Kleefstra syndrome PAOs, clinicians and researchers from different domains having a common interest: share new research findings related to Kleefstra syndrome that will lead the Kleefstra community to optimize current care and to reach their final goal, the discovering of a life-changing treatment and cure for Kleefstra syndrome. A special focus is given to artificial intelligence (AI), which is generally still something new for the rare disease communities, but it can play a crucial role, especially in shortening the time needed for new research insights.
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Uploaded videos:
Session 1
Welcome
Jun 14, 2023
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103 Views
An introduction to the Kleefstra syndrome community
Jun 14, 2023
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31 Views
The Kleefstra syndrome journey
Jun 14, 2023
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64 Views
Kleefstra syndrome data collection and the Rare Diseases Observatory
Jun 14, 2023
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53 Views
Addressing global challenges related to SDGs with AI
Jun 14, 2023
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84 Views
Session 2
IPSC-derived neural cells and strategies for upregulating the wt allele in patie...
Jun 14, 2023
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35 Views
Inverse Molecular Docking as a New Powerful Tool for Drug-Repurposing
Jun 14, 2023
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54 Views
Growth and metabolism in Kleefstra syndrome
Jun 14, 2023
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36 Views
EEG data analysis and AI/ML methods for brain conditions
Jun 14, 2023
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73 Views
Session 3
Patient/caregiver reported data: Genida registry
Jun 14, 2023
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57 Views
Data visualisations for clinical and patients use
Jun 14, 2023
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29 Views
How to tackle unstructured data with data science? Showcase of Genida example (H...
Jun 14, 2023
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54 Views
Patients-centered care plan based on Big Data and AI technologies
Jun 14, 2023
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92 Views
Cell consequences of loss of function of the epigenetic factor EHMT1
Jun 14, 2023
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23 Views
Chromatinopaties study
Jun 14, 2023
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34 Views
Session 4
Dissecting the cell-type specific contribution of EHMT1 to neuronal network func...
Jun 14, 2023
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27 Views
Comprehensive EHMT1 variant interpretation provides insight into EHMT1 functions
Jun 14, 2023
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42 Views
The establishment and characterization of iPSC derived 3D neurosphere cultures f...
Jun 14, 2023
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6 Views
Advanced treatments and its transfer to patients
Jun 14, 2023
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26 Views
AI/ML in healthcare
Jun 14, 2023
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131 Views
Session 5
Kleefstra syndrome speech and language study
Jun 14, 2023
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35 Views
Kleefstra and Kleefstra-like syndromes in the Spanish Undiagnosed Rare Diseases ...
Jun 14, 2023
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41 Views
Innovative approach towards the national organization of rare disease management...
Jun 14, 2023
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25 Views
GestaltMatcher: rare disease matching using facial phenotypic descriptors
Jun 14, 2023
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27 Views
Session 6
Unlocking New Possibilities for Rare Disease Healthcare Professionals and Patien...
Jun 14, 2023
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32 Views
The QuaLiSID system and related video analysis technologies for supporting indiv...
Jun 14, 2023
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19 Views
Arrhythmias including Atrial Fibrillation in Kleefstra Syndrome: a possible epig...
Jun 14, 2023
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51 Views