GNAO1 European Conference 2023

Famiglie GNAO1, the Italian GNAO1 patients association, is happy to announce the third edition of the GNAO1 European Conference, in Rome, on the 16th and 17th of June 2023 . Two days entirely dedicated to the ultra-rare disease caused by the GNAO1 gene mutation. An event open to clinicians, researchers, rehabilitation experts, families and everyone interested in this genetic disease.

The conference is structured as follows:

• The first day will focus on clinical aspects of the disease as well as on the latest updates on the ongoing research projects. Note that all the talks will be in English with real time translation to Italian and Spanish.
• The second day will cover rehabilitation topics and will go through what has been discussed the day before with an easier language, at the advantage of the non-technical audience. A session dedicated to accessible videogaming will complete the day. Note that the talks will be mostly in Italian with real time translation to English and Spanish.



First Day (16th of June) Agenda



09:00 Registration

09:30 Greetings

Massimiliano Tomassi (Famiglie GNAO1 APS, Italy), Sara Mespah (ROAD Rome Advanced District, Italy)



LECTURES ON THE CLINICAL ASPECTS OF THE DISEASE

CHAIRS: Giovanna Zorzi (C. Besta Neurological Institute, Italy), Vincenzo Leuzzi (Sapienza University of Rome, Italy)



09:45 Genetic disorders affecting G protein-coupled receptors-cAMP signaling: pathophysiology, phenotypic spectrum, and therapeutic implications

Serena Galosi (Sapienza University of Rome, Italy)



10:10 Natural History of GNAO1 Neurodevelopmental Disorder

Amy R. Viehoever (St. Louis Children’s Hospital, Missouri, USA)



10:35 Deep Brain Stimulation in GNAO1

Anne Koy (University of Cologne, Germany)



11:00 Break



11:20 GNAO1-related neurodevelopmental disorder: phenotypic and genotypic characterization of Spanish patients

Juan Dario Ortigoza-Escobar (Sant Joan de Déu Hospital, Spain)



11:45 Highlighting the Dystonic Phenotype Related to GNAO1

Thomas Wirth (Université de Strasbourg, France)

Diane Doummar (Hôpital Armand-Trousseau, France)



12:10 Results from the GNAO1 Registry in Germany

Moritz Thiel (University of Cologne, Germany)



12:35 Managing and prevention of status dystonicus in GNAO1: the Evelina experience

Jean Pierre Lin (Evelina Children's Hospital, UK)



13:00 Break & Posters session



LECTURES ON RESEARCH PROJECTS UPDATES

CHAIRS: Enza Maria Valente (University of Pavia, Italy), Martina Di Rocco (National Institute of Health (ISS), Italy)



14:00 Exploring the three-dimensional structure of the Gαo protein, encoded by the GNAO1 gene, as a possible pharmaceutical target: an in-silico study

Davide Pirolli (National Research Council (CNR), Italy)



14:25 Generation and characterization of a new in vitro model for GNAO1 encephalopathy based on human iPSCs

Alessandro Rosa (Sapienza University of Rome, Italy)



14:50 Pathogenetic mechanisms and drug screening in C. elegans

Simone Martinelli (National Institute of Health (ISS), Italy)



15:15 Neomorphic mutations in GNAO1 encephalopathy: from mechanisms to drug discovery

Vladimir Katanaev (University of Geneva, Switzerland)



15:40 Break & Posters session



16:10 Modeling dominant negative GNAO1 disorder in mice

Kirill Martemyanov (Scripps Biomedical Research, Florida, US)



16:35 RNA-Based therapeutics for GNAO1 neurodevelopmental disorder

Inna Shomer (Sheba Medical Center, Israel)



ORAL COMMUNICATIONS FROM YOUNG RESEARCHERS

CHAIRS: Serena Galosi (Sapienza University of Rome, Italy), Simone Martinelli (National Institute of Health (ISS), Italy)



17:00 Four oral communications selected by the scientific committee from the Posters Panel



18:15 End of the event



Second Day (17th of June) Agenda



09:00 Registrations

09:30 Greetings

Massimiliano Tomassi (Famiglie GNAO1 APS, Italy), Domenica Surace (Joule, the Eni school of entrepreneurship, Italy)

09:50 RESEARCH DEMYSTIFIED AND THE ROLE OF PATIENTS

CHAIR: Angelica Giambelluca (Director at INNLIFES-Innovation in LifeScience, Italy)

Serena Galosi (Sapienza University of Rome, Italy)

Simone Martinelli (National Institute of Health (ISS), Italy)

Paola Kruger (Patient Expert EUPATI, Italy)

10:50 Break

THERAPY TIPS AND TRICKS

CHAIR: Giovanna Zorzi (C. Besta Neurological Institute, Italy)

11:20 Postural Competence in GNAO1 patients: functional needs and suggestions

Mariateresa Giannini (Sapienza, Policlinico Umberto I, Italy)

Caterina Gioachin (Sapienza, Policlinico Umberto I, Italy)

11:45 AAC: strategies and tools to support participation

Raffaela Amantis (AAC Expert Therapist, Italy)

12:10 Feeding and Swallowing Disorders in rare diseases

Cristiana Murgioni (Bambino Gesù Children's Hospital, Italy)

12:35 Balancing Needs: Your Child, You & Your Emotions

Eleonora Damiani (Family Psychotherapist, Italy)

13:00 Break

G STANDS FOR GAME TOO

CHAIR: Anna Chiara Izzo (Famiglie GNAO1 APS, Italy)

14:00 Taking control through technology

Mick Donegan (Special Effect, UK)

14:25 Play4all, an italian community

Nicola Gencarelli (Asphi Foundation, Italy)

14:50 Adaptive videogaming hands-on session

16:00 End of the event



This Networking event has received funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575