Basic biology of GNAO1 signaling

Molecular mechanisms of GNAO1 disorder: mouse models and functional studies
K. Martemyanov, Jupiter, FL/USA

Molecular and cellular defects of pathogenic GNAO1 variants
V. Katanaev, Geneva/CH

Regulators of G protein Signaling
H. Dohlman, Chapel Hill/USA
 

Preclinical models of GNAO1-related disease

Induced pluripotent stem cells for studying the GNAO1-related neurodevelopmental disorder
H. Mikkers, Leiden/NL

Human iPSC-based GNAO1 disease models show impaired neuronal differentiation and function
A. Rosa, Rome/I

Insights from C. eleganas Models of Post-Synaptic Disorders affecting GPCR-cAMP Signaling
S. Martinelli, Rome/I

Drosophila models in GNAO1
M. Savitsky, Geneva/CH

Studies on the Role of GNAO1 in Synaptic Transmission in a Mouse Model
H. Suh-Kim, Suwom, ROK
 

Drug / therapeutic discovery programs dedicated to the disease

Pre-clinical development of a CRISPR-mediated gene therapy for GNAO1 Encephalopathy using patient stem cells and a mouse model
P. Kazemian, Vancouver/CDN

Personalized Allele-Selective ASO for GNAO1 Neurodevelopmental Disorder
I. Shomer, Ramat Gan/IL

Base editing technology and translational studies
D. Li, Shanghai/CHN

Gene therapy for GNAO1-related disorder
C. Limatola, Rome/I
 

Poster Walk with short presentation

Consensus-based domains and instruments for a GNAO1 registry: a modified Delphi procedure
L. Heideman, Amsterdam/NL

GABAergic and cholinergic neurons are the main determinants of hyperactive locomotion in C. elegans model of GNAO1 encephalopathy
M. Di Rocco, Rome/I

Functional characterization of mutant GNAO1 hiPSC-derived striatal neurons
R. de Mori, Rome/I

Exploring the impact of dyskinetic crises in GNAO1-related disorders: A survey for parents and caregivers
J. Dominguez-Carral, Barcelona/E

Impact of GNAO1 point mutations on neurite formation and elongation
D. Silachev, Geneve/CH

Caregivers perspectives and decision-making on deep brain stimulation in GNAO1-related disorders
J. Dominguez-Carral, Barcelona/E
 

Clinical trials dedicated to the disease

First Insights and Experiences with Zinc in GNAO1-Related Disorders - ZINCGNAO1 Trial
M. Thiel, Cologne/D

Caffein in GNAO1-related disorders
V. Leuzzi, Rome/I

Updates about the GNAO1-EU project
G. Zorzi, Milano/I

Visualizing the Dominant GPCR-Coupling of GNAO1 Mutations
G. Solis, Geneve/CH

Talks of accepted abstracts

Repositioning disulfiram as a potentail durg for GNAO1-neurodevelopmental disorders
Y. Larasati, Geneve/CH

Neuronal oscillatory imbalances in GNAO1-related disorders associted with disease severity
T. Wang, Amsterdam/NL

Study of the pathophysiology of GNAO1 encephalopathy using patient hiPSC-derived neurons
M. Saez Gonzalez. Leiden/NL

Clinical aspects of the disease: conventional approaches and patient care innovations

Insight in language comprehension and communication abilities in children with GNAO1
J. Geytenbeek, Amsterdam/NL

Feeding and swallowing in rare neurological disorders
A. Cerchiari, Rome/I; C. Murgioni, Rome/I

Epilepsy in GNAO1
E. Axeen, Charlottesville, VA/USA

Advances in GNAO1 research: Patient-centered approaches, caregiver insights, and natural history analysis
D. Ortigoza-Escobar, Barcelona/E

Feeding Sessions with parents
A. Cerchiari; C. Murgioni, Rome/I

Various

Risk – benefit ratio of deep brain stimulation (including experiences of GEPESTIM -Registry)
A. Koy, Cologne/D

Rehabilitation in neurological disorders and GNAO1
K. Martakis, Gießen/D

Transition from childhood to adulthood (video presentation)
L. de Graaff, Rotterdam/NL
 

Lunch break

Various

The Dual Process Model - Coping with grief
Y. Kuijer, Bilthoven/NL

How to become happy again in a life you didn‘t choose. Me-Movement The Happiness Plan
T. de Jong, Amsterdam/NL
 

Clinical Cases and rising Star session

Young researchers presenting their word conecpts or ideas