Famiglie GNAO1 hosted the second GNAO1 European Conference online from 1-3 October 2020. The principal objectives of this conference were to:

  • Facilitate cross-pollination of research ideas and developments across the globe
  • Continue to build a centre of innovative GNAO1 research and practice in the European Union
  • Generate awareness, so that GNAO1 patients are able to arrive at the proper diagnosis and establish the appropriate clinical and rehabilitation programme as early as possible

Conference highlights:

  • Presentations by clinicians, researchers and therapists from Italy, United States, The Netherlands, Switzerland and Russia
  • More than 200 attendees from 20+ countries
  • Patronage of the European Parliament
  • Medal of Recognition from the President of the Republic of Italy

A special thanks to The Bow Foundation (USA), Stichting GNAO1 (NL), GNAO1 España (ES), Mondo GNAO1 (UK), GNAO1 Tuki Ri (FI), Cure GNAO1 (USA) for their role in the organization of the conference.

Research Updates Session

Moderator: Luca Battistini | Santa Lucia Foundation (Rome, IT)

Massimiliano Tomassi
Famiglie GNAO1 Association (Rome, IT)

Welcome and introduction to the Research Updates Session

Kirill Martemyanov
Scripps Research Institute (Jupiter, FL, USA)

Insights into GNAO1 function in the brain and pathogenic mechanisms of its disease variants

(Picture credit: www.scripps.edu)

Vladimir Katanaev
University of Geneva (Geneva, CH)

GNAO1 encephalopathy: molecular etiology and animal models

(Picture credit: nashagazeta.ch)

Simone Martinelli, Martina Di Rocco
National Institute of Health (Rome, IT)

Modelling GNAO1-related diseases in Caenorhabditis elegans

Frank Baas
Leiden University (Leiden, NL)

The use of induced pluripotent stem cell technology in studies of GNAO1 related disorders

Timofei Zatsepin
Skolkovo Institute of Science and Technology (Moscow, RU)

Early development of antisense oligonucleotide therapeutics to treat G203R GNAO1 encephalopathy

Clinicians and Researchers Round Table

Enza Maria Valente | University of Pavia (Pavia, IT)
Renzo Guerrini | Meyer Children’s Hospital (Florence, IT)

Clinical/Rehabilitation Session

Moderator: Jane Yoo | Famiglie GNAO1 APS (Rome, Italy)

Massimiliano Tomassi
Famiglie GNAO1 APS (Rome, IT)

Welcome and introduction to the Clinical/Rehabilitation Session

Amy Viehoever
Washington University in St. Louis (St. Louis, MO, USA)

GNAO1 Natural History Study

Erika Axeen
University of Virginia (Charlottesville, VA, USA)

Preliminary results of the GNAO1 International Registry

Serena Galosi
Sapienza University of Rome (Rome, IT)

GNAO1 related disorders: update on clinical spectrum

Giovanna Zorzi
Foundation I.R.C.C.S Carlo Besta Neurological Institute (Milan, IT)

Update on treatment options in GNAO1-associated movement disorder

Alessandro Capuano
Bambino Gesù Children’s Hospital (Rome, IT)

Eye-tracking for communication skills assessment and training in GNAO1 patients: a single center experience

Karen Balk
Washington University in St. Louis (St. Louis, MO, USA)

Occupational Therapy strategies for children affected by GNAO1 gene mutation

With the patronage of

  • European Parliament
  • Italian National Research Council
  • Italian National Institute of Health
  • Bambino Gesù Children’s Hospital (Rome, IT)
  • Meyer Children’s Hospital (Florence, IT)
  • Foundation I.R.C.C.S Carlo Besta Neurological Institute (Milan, IT)
  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Rome, IT)
  • Telethon Foundation
  • Osservatorio Malattie Rare (Rare Diseases Observatory)