Scientific Program - Machado Joseph Disease (MJD/SCA3)
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| 11:00-13:15 |
Chairs: Luis Pereira de Almeida, Portugal; Thomas Klockgether, Germany |
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| 11:00-11:15 |
Introductory remarks
Luis Pereira de Almeida, Portugal; Thomas Klockgether, Germany
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| 11:15-12:15 | Clinical perspective | ||
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11:15-11:30
11:30-11:45
11:45-12:00
12:00-12:15 |
Clinical features and the natural history: Thomas Klockgether, Germany Clinical features | Central Portugal Cohort: Cristina Januario, Portugal MRI imaging: Marcondes França, Brazil Executive impairment correlates with motor impairment in SCA-3: Michael Geschwind, USA |
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| 12:15-13:15 | ATXN3 gene and protein | ||
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12:15-12:30
12:30-12:45
12:45-13:00
13:00-13:15 |
Ancestral origins of MJD/SCA-3: Sandra Martins, Portugal
Planning and feasibility of clinical trials: Thomas Klockgether, Germany Ataxin-3 structure and function: Sandra Macedo-Ribeiro, Portugal Phosphorylation of ataxin-3: Ana Luisa Carvalho, Portugal |
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| 13:15-14:00 | Lunch Break | ||
| 14:00-16:30 | |||
| 14:00-15:15 | Models of disease | ||
| 14:00-14:15 | C. Elegans: Andreia Teixeira-Castro, Portugal | ||
| 14:15-14:30 | Potential treatment on MJD/SCA-3 drosophila models and patients: Hong Jiang, China | ||
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14:30-14:45 |
Zebrafish model of MJD: Mainne Watchon, Australia | ||
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14:45-15:00 |
Knock-in model of MJD/SCA-3: Maciej Figiel, Poland | ||
| 15:15-16:30 | Mechanisms of disease | ||
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15:15-15:30
15:30-15:45
15:45-16:00
16:00-16:15
16:15-16:30 |
Nuclear localization and transport: Thorsten Schmidt, Germany
DNA-repair mechanisms: Partha Sarkar, USA Transcriptional dysregulation: Bernd Evert, Germany Regulation of translation of Ataxin-3 by Ataxin-2: Clevio Nobrega, Portugal Proteolysis of ataxin-3: Jonasz Weber, Germany |
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| 16:30-17:30 | |||
| 16:30-17:30 | Pharmacological and advancedtherapies | ||
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16:30-16:45
16:45-17:00
17:00-17:15
17:15-17:30 |
Low molecular weight drugs: Patrícia Maciel, Portugal Pre-clinical studies with trehalose: Magda Santana, Portugal Stem cell therapies: Liliana Mendonça, Portugal Molecular approaches for MJD: Luis Pereira de Almeida, Portugal |
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| 17:30-18:30 | Cinical trials | ||
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17:30-17:45
17:45-18:00
18:00-18:15 |
Biomarkers of MJD/SCA-3: Manuela Lima, Portugal The Lithium clinical trial: Laura Jardim, Brazil Preliminary results of intravenous trehalose for the treatment of SCA3: Carlos Gordon, Israel |
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18:15-18:30 |
Closing remarks and discussion Luis Pereira de Almeida, Portugal; Thomas Klockgether, Germany |
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| Details to follow. Please submit your abstract directly to the CONy Secretariat: cony@comtecmed.com |
