GNAO1 European Conference 2019

Famiglie GNAO1 hosted the first European GNAO1 conference in Rome, Italy on 16 November 2019.

PRINCIPAL OBJECTIVES OF THIS CONFERENCE

The goal of this conference was to engage the medical, research, rehabilitation and health policy community in Italy and Europe to:

begin the foundations of a strong center of innovative GNAO1 research and practice in the European Union;
facilitate global initiatives with intercontinental project teams.

Conference highlights:

presentations by clinicians, researchers and therapists from Italy, The Netherlands, Germany, UK and Switzerland;
attendance by 20+ families from 9 countries;
patronage of the European Parliament;
medal of Recognition from the President of the Republic of Italy.

A special thanks, once more, to the National Roman Museum – Thermal Baths of Diocletian for their hospitality and the special reception dedicated to our children.

Presentation and video

FAMIGLIE GNAO1 ASSOCIATION (ROME, ITALY)

Massimiliano Tomassi

Welcome and presentation of the Famiglie GNAO1 Association

NATIONAL CENTRE FOR RARE DISEASE, NATIONAL INSTITUTE OF HEALTH (ROME, ITALY)

Domenica Taruscio

Rare Diseases: National and International Contexts

SAPIENZA UNIVERSITY OF ROME (ROME, ITALY)

Vincenzo Leuzzi

Characteristics of GNAO1 Movement Disorders and Paroxysms

MEYER CHILDREN’S HOSPITAL (FLORENCE, ITALY)

Renzo Guerrini

Epileptic and Dyskinetic Encephalopathies

UNIVERSITY OF PAVIA (PAVIA, ITALY)

Enza Maria Valente

Mutational Spectrum and Pathogenic Mechanisms

AGOSTINO GEMELLI UNIVERSITY HOSPITAL FOUNDATION (ROME, ITALY)

Domenica Battaglia, Daniela Ricci

Cognitive Development and Neuro-visual Function in Children with GNAO1 Mutations

BAMBINO GESÙ CHILDREN’S HOSPITAL (ROME, ITALY)

Alessandro Capuano

Pharmacological Treatment of Dyskinetic and Dystonic States in Domestic and Hospital Settings

UNIVERSITY OF PADUA (PADUA, ITALY)

Miryam Carecchio

Pharmacological Treatments and Long-term Clinical Outcomes

UNIVERSITY OF COLOGNE (COLOGNE, GERMANY)

Anne Koy

Effects of DBS in patients with GNAO1

EVELINA LONDON CHILDREN’S HOSPITAL (LONDON, UNITED KINGDOM)

Jean-Pierre Lin

Long-term and short-term outcomes of DBS for GNAO1 dystonia-dyskinesia in childhood: what can families expect?

LEIDEN UNIVERSITY (LEIDEN, NETHERLANDS)

Frank Baas

Gene identification and studies in neurodevelopmental disorders

UNIVERSITY OF GENEVA (GENEVA, SWITZERLAND)

Vladimir Katanaev

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