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 95 views
Welcome
Jun 14, 2023 150 views
Addressing global challenges related to SDGs with AI
Jun 14, 2023 118 views
An introduction to the Kleefstra syndrome community
Jun 14, 2023 87 views
Kleefstra syndrome data collection and the Rare Diseases Observatory
Jun 14, 2023 86 views
Session 2
EEG data analysis and AI/ML methods for brain conditions
Jun 14, 2023 100 views
Inverse Molecular Docking as a New Powerful Tool for Drug-Repurposing
Jun 14, 2023 84 views
Characterizing sleep in Kleefstra syndrome individuals and fly models
Jun 14, 2023 0 views
IPSC-derived neural cells and strategies for upregulating the wt allele in patie...
Jun 14, 2023 55 views
Growth and metabolism in Kleefstra syndrome
Jun 14, 2023 76 views
Session 3
Patients-centered care plan based on Big Data and AI technologies
Jun 14, 2023 122 views
How to tackle unstructured data with data science? Showcase of Genida example (H...
Jun 14, 2023 95 views
Patient/caregiver reported data: Genida registry
Jun 14, 2023 93 views
Chromatinopaties study
Jun 14, 2023 58 views
Cell consequences of loss of function of the epigenetic factor EHMT1
Jun 14, 2023 42 views
Data visualisations for clinical and patients use
Jun 14, 2023 53 views
Session 4
AI/ML in healthcare
Jun 14, 2023 157 views
Comprehensive EHMT1 variant interpretation provides insight into EHMT1 functions
Jun 14, 2023 82 views
The establishment and characterization of iPSC derived 3D neurosphere cultures f...
Jun 14, 2023 38 views
Advanced treatments and its transfer to patients
Jun 14, 2023 52 views
Dissecting the cell-type specific contribution of EHMT1 to neuronal network func...
Jun 14, 2023 52 views
Session 5
Kleefstra and Kleefstra-like syndromes in the Spanish Undiagnosed Rare Diseases ...
Jun 14, 2023 70 views
GestaltMatcher: rare disease matching using facial phenotypic descriptors
Jun 14, 2023 53 views
Innovative approach towards the national organization of rare disease management...
Jun 14, 2023 43 views
Kleefstra syndrome speech and language study
Jun 14, 2023 55 views
Session 6
Unlocking New Possibilities for Rare Disease Healthcare Professionals and Patien...
Jun 14, 2023 58 views
Kleefstra syndrome, a hidden metabolic disorder?
Jun 14, 2023 0 views
Arrhythmias including Atrial Fibrillation in Kleefstra Syndrome: a possible epig...
Jun 14, 2023 67 views
The QuaLiSID system and related video analysis technologies for supporting indiv...
Jun 14, 2023 50 views
