Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work”, Ljubljana 2023

Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work”, Ljubljana 2023

27 Lectures · Jun 1, 2023

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

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03:04

Welcome

Tjitske Kleefstra

Jun 14, 2023

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105 Views

Lecture
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08:36

An introduction to the Kleefstra syndrome community

Tanja Zdolšek

Jun 14, 2023

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31 Views

Lecture
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30:05

The Kleefstra syndrome journey

Tjitske Kleefstra

Jun 14, 2023

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65 Views

Lecture
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17:45

Kleefstra syndrome data collection and the Rare Diseases Observatory

Tanja Zdolšek

Jun 14, 2023

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57 Views

Lecture
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25:36

Addressing global challenges related to SDGs with AI

Mitja Jermol

Jun 14, 2023

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86 Views

Lecture

Session 2

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32:45

IPSC-derived neural cells and strategies for upregulating the wt allele in patie...

Hans van Bokhoven

Jun 14, 2023

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37 Views

Lecture
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23:44

Inverse Molecular Docking as a New Powerful Tool for Drug-Repurposing

Urban Bren

Jun 14, 2023

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57 Views

Lecture
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16:44

Growth and metabolism in Kleefstra syndrome

Arianne Bouman

Jun 14, 2023

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36 Views

Lecture
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23:34

EEG data analysis and AI/ML methods for brain conditions

Katerina Tzimourta

Jun 14, 2023

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73 Views

Lecture

Session 3

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11:45

Patient/caregiver reported data: Genida registry

Pauline Burger

Jun 14, 2023

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57 Views

Lecture
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21:52

Data visualisations for clinical and patients use

Alenka Gucek

Jun 14, 2023

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29 Views

Lecture
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15:59

How to tackle unstructured data with data science? Showcase of Genida example (H...

Erik Novak

Jun 14, 2023

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58 Views

Lecture
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19:09

Patients-centered care plan based on Big Data and AI technologies

Izidor Mlakar

Jun 14, 2023

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93 Views

Lecture
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16:42

Cell consequences of loss of function of the epigenetic factor EHMT1

Sabrina Rivero

Jun 14, 2023

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23 Views

Lecture
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13:30

Chromatinopaties study

Laura Pezzoli,

Federica Gaudioso

Jun 14, 2023

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35 Views

Lecture

Session 4

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27:03

Dissecting the cell-type specific contribution of EHMT1 to neuronal network func...

Nael Nadif Kasri

Jun 14, 2023

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27 Views

Lecture
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23:12

Comprehensive EHMT1 variant interpretation provides insight into EHMT1 functions

Dmitrijs Rots

Jun 14, 2023

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43 Views

Lecture
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12:06

The establishment and characterization of iPSC derived 3D neurosphere cultures f...

Andrea Balogh

Jun 14, 2023

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6 Views

Lecture
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24:35

Advanced treatments and its transfer to patients

Roman Jerala,

Mojca Benčina

Jun 14, 2023

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31 Views

Lecture
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22:59

AI/ML in healthcare

Aleksander Sadikov

Jun 14, 2023

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131 Views

Lecture

Session 5

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16:43

Kleefstra syndrome speech and language study

Lottie Morrison

Jun 14, 2023

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35 Views

Lecture
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19:51

Kleefstra and Kleefstra-like syndromes in the Spanish Undiagnosed Rare Diseases ...

Maria José Barrero

Jun 14, 2023

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41 Views

Lecture
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25:23

Innovative approach towards the national organization of rare disease management...

Luca Lovrečić

Jun 14, 2023

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26 Views

Lecture
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16:23

GestaltMatcher: rare disease matching using facial phenotypic descriptors

Peter Krawitz

Jun 14, 2023

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27 Views

Lecture

Session 6

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19:03

Unlocking New Possibilities for Rare Disease Healthcare Professionals and Patien...

João Pita Costa

Jun 14, 2023

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33 Views

Lecture
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18:42

The QuaLiSID system and related video analysis technologies for supporting indiv...

Vasileios Mezaris

Jun 14, 2023

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19 Views

Lecture
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19:55

Arrhythmias including Atrial Fibrillation in Kleefstra Syndrome: a possible epig...

Sunil K. Vasireddi

Jun 14, 2023

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52 Views

Lecture