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.
Videos
Session 1

The Kleefstra syndrome journey
Jun 14, 2023
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76 views

Welcome
Jun 14, 2023
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122 views

Addressing global challenges related to SDGs with AI
Jun 14, 2023
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95 views

An introduction to the Kleefstra syndrome community
Jun 14, 2023
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63 views

Kleefstra syndrome data collection and the Rare Diseases Observatory
Jun 14, 2023
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69 views
Session 2

EEG data analysis and AI/ML methods for brain conditions
Jun 14, 2023
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82 views

Inverse Molecular Docking as a New Powerful Tool for Drug-Repurposing
Jun 14, 2023
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63 views

Characterizing sleep in Kleefstra syndrome individuals and fly models
Jun 14, 2023
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0 views

IPSC-derived neural cells and strategies for upregulating the wt allele in patie...
Jun 14, 2023
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40 views

Growth and metabolism in Kleefstra syndrome
Jun 14, 2023
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50 views
Session 3

Patients-centered care plan based on Big Data and AI technologies
Jun 14, 2023
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105 views

How to tackle unstructured data with data science? Showcase of Genida example (H...
Jun 14, 2023
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77 views

Patient/caregiver reported data: Genida registry
Jun 14, 2023
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63 views

Chromatinopaties study
Jun 14, 2023
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46 views

Cell consequences of loss of function of the epigenetic factor EHMT1
Jun 14, 2023
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28 views

Data visualisations for clinical and patients use
Jun 14, 2023
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36 views
Session 4

AI/ML in healthcare
Jun 14, 2023
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143 views

Comprehensive EHMT1 variant interpretation provides insight into EHMT1 functions
Jun 14, 2023
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56 views

The establishment and characterization of iPSC derived 3D neurosphere cultures f...
Jun 14, 2023
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11 views

Advanced treatments and its transfer to patients
Jun 14, 2023
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41 views

Dissecting the cell-type specific contribution of EHMT1 to neuronal network func...
Jun 14, 2023
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33 views
Session 5

Kleefstra and Kleefstra-like syndromes in the Spanish Undiagnosed Rare Diseases ...
Jun 14, 2023
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47 views

GestaltMatcher: rare disease matching using facial phenotypic descriptors
Jun 14, 2023
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32 views

Innovative approach towards the national organization of rare disease management...
Jun 14, 2023
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33 views

Kleefstra syndrome speech and language study
Jun 14, 2023
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44 views
Session 6

Unlocking New Possibilities for Rare Disease Healthcare Professionals and Patien...
Jun 14, 2023
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39 views

Kleefstra syndrome, a hidden metabolic disorder?
Jun 14, 2023
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0 views

Arrhythmias including Atrial Fibrillation in Kleefstra Syndrome: a possible epig...
Jun 14, 2023
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54 views

The QuaLiSID system and related video analysis technologies for supporting indiv...
Jun 14, 2023
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32 views