Programme

Monday 22 November 2021

Session 1: Genetics & New Targets/Pathways

14.00 - 14.05 CET: Welcome

14.05 - 14.35: Keynote lecture
Stephan Zuchner (University of Miami)

14.35 - 14.55: AGI Working Groups - WG6: Next-generation genomics and platforms
Matthis Synofzik (University of Tübingen)

14.55 - 15.15: AGI Projects - Genetic modifiers of the CANVAS (RFC1 expansion) and other recessive repeat expansion disorders
Henry Houlden (University College London)

15.15 - 15.35: AGI Projects - Stem cells models of ARCAs to understand pathogenic, therapeutically tractable mechanisms
Andrea Nemeth (University of Oxford)

Session 2: AGI Business Meeting (members only)

15.40 - 15.50: Introduction
Thomas Klockgether (Chair of the AGI Steering Committee, University of Bonn)

15.50 - 16.10: Business presentation
Holm Graessner (Head of the AGI office, University of Tübingen)

16.10 - 16.20: Role of patient organisations in AGI
Sue Hagen (National Ataxia Foundation)
Julie Greenfield (Ataxia UK)

16.20 - 16.30: Trial readiness services
Birte Zurek (AGI office, University of Tübingen)

16.30 - 16.40: Collaboration with CPTA
Terina Martinez (CPTA)

16.40 - 17.10: Next actions and discussion
Annemarie Post (AGI office, University of Tübingen)

Tuesday 23 November 2021

Session 3: Biomarkers and natural history

19.30 - 19.35 CET: Welcome

19.35 - 20.00: Keynote lecture
Karl Broich (Federal Institute for Drugs and Medical Devices Germany)

20.00 - 20.17: AGI Working Groups - WG3: MR biomarkers
Gülin Öz (University of Minnesota)

20.17 - 20.29: AGI Projects - Retinal degeneration as a biomarker in ataxias
José Luiz Pedroso (Federal University of São Paulo)

20.29 - 20.41: AGI Projects - Identification and characterization of biomarkers from blood plasma and CSF of spinocerebellar ataxia-1 (SCA1) patients: alignment with imaging and natural history studies
Puneet Opal (Northwestern University)

20.41 - 20.53: AGI Projects - TBD

20.53 - 21.05: PAHAN survey: access of patients with hereditary ataxias to diagnosis and management in the American continents and the Caribbean
Laura Bannach Jardim (Federal University of Rio Grande do Sul)

Session 4: Therapy

21.10 - 21.35: Keynote lecture - ASO therapies in Huntington's disease
Blair Leavitt (University of British Columbia)

21.35 - 22.00: Keynote lecture - Gene therapy for polyQ SCAs
Natalie Cartier (INSERM)

22.00 - 22.12: AGI Working Groups - WG1: Clinical outcomes & registries
Thomas Klockgether (University of Bonn)

22.12 - 22.24: AGI Working Groups - WG5: Model systems and preclinical trials
TBD

22.24 - 22.36: AGI Projects - CACNA1A-related ataxia: functional characterization of clinically severe variants for drug repurposing
Ginevra Zanni (Bambino Gesù Children’s Hospital)