16 November 2019 at 09:00
Roman National Museum
Thermal Baths of Diocletian
Rome, Italy

Famiglie GNAO1 will host the first European GNAO1 conference in Rome, Italy on Saturday, 16 November 2019.

The goal of this conference is to engage the medical, research, rehabilitation and health policy community in Italy and Europe to begin the foundations of a strong centre of innovative GNAO1 research and practice in the European Union. Our aim is to facilitate global initiatives with intercontinental project teams.

Speakers will include neurologists, geneticists, medical researchers and therapists from Italy, the Netherlands, Germany, UK and Switzerland.

We will provide Italian-to-English and English-to-Italian translations in real-time for the attendees that would require it. The conference will not be live-streamed, but video footage will be available following the event.

The conference will be held at the Museo Nazionale Romano – Terme di Diocleziano, which is conveniently located in front of Termini rail station. Children will be hosted in a playroom with entertainment.

Registration required at info@gnao1.it

The Programme

9:00 Check-in

9:30 Welcome
Carlotta Caruso – National Roman Museum, Thermal Baths of Diocletian
Massimiliano Tomassi – Famiglie GNAO1 Association

09:45 Rare Diseases: National and International Contexts
Domenica Taruscio – National Centre for Rare Diseases, National Institute of Health

10:00 Characteristics of GNAO1 Movement Disorders and Paroxysms
Vincenzo Leuzzi – Sapienza University of Rome

10:25 Epileptic and Dyskinetic Encephalopathies
Renzo Guerrini – Meyer Children’s Hospital of Florence

10:50 Coffee break

11:20 Mutational Spectrum and Pathogenic Mechanisms
Enza Maria Valente – University of Pavia

11:45 Cognitive Development and Neuro-visual Function in Children with GNAO1 Mutations
Domenica Battaglia, Daniela Ricci – Agostino Gemelli University Hospital Foundation

12:10 Q&A with Physicians

12:30 Pharmacological Treatment of Dyskinetic and Dystonic States in Domestic and Hospital Settings
Alessandro Capuano – Bambino Gesù Children’s Hospital of Rome

12:55 Pharmacological Treatments and Long-term Clinical Outcomes
Miryam Carecchio – University of Padua

13:20 Lunch Break

14:20 Effects of DBS in patients with GNAO1
Anne Koy – University of Cologne

14:45 Long-term and short-term outcomes of DBS for GNAO1 dystonia-dyskinesia in childhood: what can families expect?
Jean-Pierre Lin – Evelina London Children’s Hospital

15:10 Q&A with Physicians

15:30 Gene identification and studies in neurodevelopmental disorders
Frank Baas – Leiden University Medical Centre

16:00 GNAO1/Gαo: from fundamental research on the functions of the major neuronal G protein to development of novel approaches to the treatment of pediatric encephalopathies
Vladimir Katanaev – University of Geneva

16:30 In parallel, in other room: round table on scientific research topics

16:30 Augmentative and Alternative Communication (AAC): Strategies and Tools for Engagement and Autonomy
Raffaela Amantis – Leonarda Vaccari Institute of Rome

16:55 Neuromotor Rehabilitation in Children with GNAO1
Maria Teresa Giannini – Sapienza University of Rome

17:20 Q&A with Rehabilitation Experts

17:40 Presentation of the “Stichting GNAO1” Dutch Foundation
Eva Broekhuizen – Stichting GNAO1 NL

17:50 Closing Remarks
Massimiliano Tomassi – Famiglie GNAO1 Association

18:00 End of the event