EVENTOS
Conferências
Conferência da Comunidade Médica e Familiar GNAO1 e GNB1 de 2026
Organizado pela Bow Foundation e pelo GNB1 Advocacy Group.
19 e 20 de junho de 2026 em Orlando, Flórida
Fotos e apresentações da conferência em breve!
Fotos e apresentações da conferência em breve!
Fotos e apresentações da conferência em breve!
Clinical EEG features of GNAO1-related disorders
Erika Axeen, MD
University of Virginia, USA
Longitudinal phenotypic trajectories in GNAO1 related disorders and plasma cell-free RNA profiling: clinical profiles, disease progression and candidate biomarkers
Constructing a multicenter neuroimaging dataset to unveil structural brain alterations in GNAO1-related disorders
Juan Darío Ortigoza-Escobar, MD, PhD
Hospital Sant Joan de Déu, Barcelona, Spain
Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Movement Disorder: A Multicenter Experience
GNB1/GNB2-Related Neurodevelopmental Disorders: Preliminary Prospective Natural History Data
Katerina Bernardi, MD
Boston Children’s Hospital - Harvard Medical School, Massachusetts, USA
Genes in the GPCR signaling pathway: GNB1 phenotype, natural history and
first-year assessment results
Juan Darío Ortigoza-Escobar, MD, PhD
Hospital Sant Joan de Déu, Barcelona, Spain
Targeting GNAO1- related disorders with zinc: Findings from the ZINCGNAO1 an open-label, single-arm, monocenter, phase 2 trial
Moritz Thiel, MD
University of Cologne, Germany
Building disease in a dish models to study the impact of GNB1 mutations
Robert Rizk, PhD Candidate
McGill University, Canada
A novel mouse model of GNAO1 disorder for therapeutic development
Gloria Brunori, PhD
University of Miami, USA
Novel insights into the GNAO1-related disorder through hiPSC-based modelling
Harold Mikkers, PhD
Leiden University Medical Center, Netherlands
Mapping Signaling Network Dysregulation in Clinical GNAO1 Mutations
William Grant Ludlam, PhD
University of Miami, USA
Altered Dendritic Structure and Function in a Mouse Model of GNB1 Encephalopathy
Dr. Samuel Gritz, PhD
Rutgers University, USA
2nd generation AAV gene therapy for GNAO1 deficiency
Miguel Sena-Esteves, PhD
UMass Chan Medical School, USA
Pre-clinical development of a CRISPR-mediated gene therapy for GNAO1 Encephalopathy using patient stem cells and a mouse model
Pardis Kazemian, PhD Candidate
University of British Columbia, Canada
Non-Viral Delivery of CRISPR Gene Therapy for Brain Diseases
Dr. Blair R. Leavitt MDCM, FRCPC (Neurology)
University of British Columbia and Incisive Genetics Inc, Canada
Beyond Canonical Gi/o Signalling: New Mechanisms in GNAO1-Related Neurological Disease
Taanisha Gupta, PhD Candidate
Charité – Universitätsmedizin Berlin, Germany
Receptor internalization dynamics are influenced by mutations in G alpha o
Jacob B. Rowe, PhD
University of Miami Miller School of Medicine, USA
GNAO1 Disorder and Regulators of G-protein Signaling
Henrik G. Dohlman, PhD
University of North Carolina at Chapel Hill, USA
Tips and Tricks for Getting Started with Augmentative and Alternative
Communication (AAC)
Kerrie Mansfield Rigberg, M.S., CCC-SLP and Christy Naghitorabi, M.S., CCC-SLP, M.A
From Diagnosis to Function: Occupational Therapy’s Role in Rare Conditions
Tierra Momplaisir, OTR/L
Unlocking Financial Resources: Step-by-Step
Advocacy Abby (Abby Zachritz)
Holding Ourselves with Care: A Conversation on Connection and Emotional Wellness
Lisa-Marie Mac Lean, GNB1 Parent and LMFT-A (Supervised by Kim Fry, LMFT-S)