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Agenda

Tuesday, May 6, 2025

5:30 PM - 6:00 PM Registrations Open
6:00 PM - 8:00 PM Welcome Reception
5:30 PM - 6:00 PM Registrations Open
6:00 PM - 8:00 PM Welcome Reception

5:30 PM - 6:00 PM Registrations Open
6:00 PM - 8:00 PM Welcome Reception

Wednesday, May 7, 2025

8:00 AM - 9:00 AM Conference Registration - Day 1
8:30 AM - 8:40 AM Welcome to Country - Mary Williams
8:40 AM - 8:45 AM Official Conference Opening - His Honour Professor the Honourable Hugh Heggie AO PSM
8:45 AM - 9:00 AM Welcome to Darwin - Gayangwa Lalara
Understanding Progression and Targeted Treatments
9:00 AM - 9:40 AM Keynote: Professor Thomas Klockgether - SCA3/MJD: Paving the way toward meaningful trials
9:40 AM - 10:20 AM Invited Speaker: Professor Laura Bannach Jardim - DNA repair genes and ATXN2 change the age at onset of MJD
10:20 AM - 10:55 AM Morning Break - Day 1
Local and Patient Perspectives
Chair: Emeritus Professor Deborah Theodoros
10:55 AM - 11:00 AM The History of the Diagnosis of MJD in Australia - Doctor Timothy Burt
11:00 AM - 11:15 AM "Our Way" Enhancing Ataxia Care in Non-Dominant Cultures: Reflections on the MJD Foundation models - Elizabeth Massey OAM
11:15 AM - 12:45 PM Workshop: How to engage Patient Participation in Ataxia Research - Doctor Penina Ponger
12:45 PM - 1:45 PM Lunch Break - Day 1
Genetics, Genomics and Age of Onset
Chair: Associate Professor Patricia Maciel
1:45 PM - 2:20 PM Invited Speaker: Associate Professor David Szmulewicz - Phenotypic features seen in Northern Australian Aboriginal people with SCA3 and SCA7
2:20 PM - 2:35 PM Genotype-phenotype correlation in 1015 Chinese families with spinocerebellar ataxia type 3 - Professor Zhi-Ying Wu
Preclinical 1
Chair: Associate Professor Angela Laird and Anastasiya Potapenko
2:35 PM - 2:50 PM Neurotherapeutic potential of bile acids in MJD via glucocorticoid receptor modulation - Associate Professor Patricia Maciel
2:50 PM - 2:55 PM Mood regulation in Machado-Joseph Disease: a step forward to more comprehensive care - Joana Sofia Correia
2:55 PM - 3:00 PM Advancing Proteostasis-enhancing Therapies: A Novel Assay for Drug Discovery in Machado-Joseph disease - Daniela Vilasboas-Campos
3:00 PM - 3:05 PM Depletion of TRMT2A alleviates pathological features in an MJD/SCA3 mouse model - Tiago Moreira-Gomes
3:05 PM - 3:35 PM Afternoon Break - Day 1
Preclinical 2
Chair: Doctor Thornsten Schmidt
3:35 PM - 3:50 PM Long-read sequencing sheds new light on the genomic basis of Indigenous MJD - Doctor Ira Deveson
3:50 PM - 4:05 PM Invited Speaker: Associate Professor David Szmulewicz - Objective Neurological assessment of Aboriginal people with MJD and SCA7
4:05 PM - 4:20 PM Exploring the dysregulation of RNA-binding proteins, including matrin-3, in MJD - Anastasiya Potapenko
4:20 PM - 4:35 PM RBPome – RNA-binding proteins in Machado-Joseph disease: from pathogenesis to therapy - Professor Clévio Nóbrega
4:35 PM - 5:00 PM End of Day 1 - Wrap Up
8:00 AM - 9:00 AM Conference Registration - Day 1
8:30 AM - 8:40 AM Welcome to Country - Mary Williams
8:40 AM - 8:45 AM Official Conference Opening - His Honour Professor the Honourable Hugh Heggie AO PSM
8:45 AM - 9:00 AM Welcome to Darwin - Gayangwa Lalara
Understanding Progression and Targeted Treatments
9:00 AM - 9:40 AM Keynote: Professor Thomas Klockgether - SCA3/MJD: Paving the way toward meaningful trials
9:40 AM - 10:20 AM Invited Speaker: Professor Laura Bannach Jardim - DNA repair genes and ATXN2 change the age at onset of MJD
10:20 AM - 10:55 AM Morning Break - Day 1
Local and Patient Perspectives
Chair: Emeritus Professor Deborah Theodoros
10:55 AM - 11:00 AM The History of the Diagnosis of MJD in Australia - Doctor Timothy Burt
11:00 AM - 11:15 AM "Our Way" Enhancing Ataxia Care in Non-Dominant Cultures: Reflections on the MJD Foundation models - Elizabeth Massey OAM
11:15 AM - 12:45 PM Workshop: How to engage Patient Participation in Ataxia Research - Doctor Penina Ponger
12:45 PM - 1:45 PM Lunch Break - Day 1
Genetics, Genomics and Age of Onset
Chair: Associate Professor Patricia Maciel
1:45 PM - 2:20 PM Invited Speaker: Associate Professor David Szmulewicz - Phenotypic features seen in Northern Australian Aboriginal people with SCA3 and SCA7
2:20 PM - 2:35 PM Genotype-phenotype correlation in 1015 Chinese families with spinocerebellar ataxia type 3 - Professor Zhi-Ying Wu
Preclinical 1
Chair: Associate Professor Angela Laird and Anastasiya Potapenko
2:35 PM - 2:50 PM Neurotherapeutic potential of bile acids in MJD via glucocorticoid receptor modulation - Associate Professor Patricia Maciel
2:50 PM - 2:55 PM Mood regulation in Machado-Joseph Disease: a step forward to more comprehensive care - Joana Sofia Correia
2:55 PM - 3:00 PM Advancing Proteostasis-enhancing Therapies: A Novel Assay for Drug Discovery in Machado-Joseph disease - Daniela Vilasboas-Campos
3:00 PM - 3:05 PM Depletion of TRMT2A alleviates pathological features in an MJD/SCA3 mouse model - Tiago Moreira-Gomes
3:05 PM - 3:35 PM Afternoon Break - Day 1
Preclinical 2
Chair: Doctor Thornsten Schmidt
3:35 PM - 3:50 PM Long-read sequencing sheds new light on the genomic basis of Indigenous MJD - Doctor Ira Deveson
3:50 PM - 4:05 PM Invited Speaker: Associate Professor David Szmulewicz - Objective Neurological assessment of Aboriginal people with MJD and SCA7
4:05 PM - 4:20 PM Exploring the dysregulation of RNA-binding proteins, including matrin-3, in MJD - Anastasiya Potapenko
4:20 PM - 4:35 PM RBPome – RNA-binding proteins in Machado-Joseph disease: from pathogenesis to therapy - Professor Clévio Nóbrega
4:35 PM - 5:00 PM End of Day 1 - Wrap Up

8:00 AM - 9:00 AM Conference Registration - Day 1
8:30 AM - 8:40 AM Welcome to Country - Mary Williams
8:40 AM - 8:45 AM Official Conference Opening - His Honour Professor the Honourable Hugh Heggie AO PSM
8:45 AM - 9:00 AM Welcome to Darwin - Gayangwa Lalara
Understanding Progression and Targeted Treatments
9:00 AM - 9:40 AM Keynote: Professor Thomas Klockgether - SCA3/MJD: Paving the way toward meaningful trials
9:40 AM - 10:20 AM Invited Speaker: Professor Laura Bannach Jardim - DNA repair genes and ATXN2 change the age at onset of MJD
10:20 AM - 10:55 AM Morning Break - Day 1
Local and Patient Perspectives
Chair: Emeritus Professor Deborah Theodoros
10:55 AM - 11:00 AM The History of the Diagnosis of MJD in Australia - Doctor Timothy Burt
11:00 AM - 11:15 AM "Our Way" Enhancing Ataxia Care in Non-Dominant Cultures: Reflections on the MJD Foundation models - Elizabeth Massey OAM
11:15 AM - 12:45 PM Workshop: How to engage Patient Participation in Ataxia Research - Doctor Penina Ponger
12:45 PM - 1:45 PM Lunch Break - Day 1
Genetics, Genomics and Age of Onset
Chair: Associate Professor Patricia Maciel
1:45 PM - 2:20 PM Invited Speaker: Associate Professor David Szmulewicz - Phenotypic features seen in Northern Australian Aboriginal people with SCA3 and SCA7
2:20 PM - 2:35 PM Genotype-phenotype correlation in 1015 Chinese families with spinocerebellar ataxia type 3 - Professor Zhi-Ying Wu
Preclinical 1
Chair: Associate Professor Angela Laird and Anastasiya Potapenko
2:35 PM - 2:50 PM Neurotherapeutic potential of bile acids in MJD via glucocorticoid receptor modulation - Associate Professor Patricia Maciel
2:50 PM - 2:55 PM Mood regulation in Machado-Joseph Disease: a step forward to more comprehensive care - Joana Sofia Correia
2:55 PM - 3:00 PM Advancing Proteostasis-enhancing Therapies: A Novel Assay for Drug Discovery in Machado-Joseph disease - Daniela Vilasboas-Campos
3:00 PM - 3:05 PM Depletion of TRMT2A alleviates pathological features in an MJD/SCA3 mouse model - Tiago Moreira-Gomes
3:05 PM - 3:35 PM Afternoon Break - Day 1
Preclinical 2
Chair: Doctor Thornsten Schmidt
3:35 PM - 3:50 PM Long-read sequencing sheds new light on the genomic basis of Indigenous MJD - Doctor Ira Deveson
3:50 PM - 4:05 PM Invited Speaker: Associate Professor David Szmulewicz - Objective Neurological assessment of Aboriginal people with MJD and SCA7
4:05 PM - 4:20 PM Exploring the dysregulation of RNA-binding proteins, including matrin-3, in MJD - Anastasiya Potapenko
4:20 PM - 4:35 PM RBPome – RNA-binding proteins in Machado-Joseph disease: from pathogenesis to therapy - Professor Clévio Nóbrega
4:35 PM - 5:00 PM End of Day 1 - Wrap Up

Thursday, May 8, 2025

8:00 AM - 8:30 AM Conference Registration - Day 2
8:30 AM - 8:40 AM Welcome to MJD International Research Conference Day 2 - Hon Jenny Macklin AC
8:40 AM - 8:50 AM Guest Speaker: Deputy Minister for Health, Brian O’Gallagher
8:50 AM - 9:00 AM Guest Speaker: Shadow Minister for Health, Dheran Young
Culture and Communication
Chair: Associate Professor Deborah Theodoros
9:00 AM - 10:30 AM Invited Speaker: Doctor Rebecca Amery – Working together to develop augmentative and alternative communication (AAC) systems in Indigenous languages with Aboriginal families living with MJD in the Northern Territory
10:30 AM - 11:00 AM Morning Break - Day 2
Basic Science
Chair: Professor Marnie Blewitt
11:00 AM - 11:30 AM Using AI to Talk Better - Doctor Damien Howard & Daniel Lalara
11:30 AM - 11:45 AM Investigating potential causes of altered gut microbiome in Machado-Joseph disease mice - Associate Professor Angela Laird
11:45 AM - 11:50 AM Modulating ataxin-3 abundance using a novel high-throughput drug testing pipeline - Doctor Maxinne Watchon
11:50 AM - 12:05 PM Strategies for therapeutic restoration of diminished butyrate levels in Machado-Joseph disease - Prapti Chakraborty
12:05 PM - 12:20 PM Invited Speaker: Doctor Thorsten Schmidt - The Cholesterol Metabolism as Treatment Target For MJD
12:20 PM - 1:20 PM Lunch Break - Day 2
Clinical Research and Trial Readiness
Chair: Associate Professor David Szmulewicz
1:20 PM - 1:55 PM Invited Speaker: Doctor Sarah Milne - Rehabilitation for Hereditary Cerebellar Ataxia
1:55 PM - 2:10 PM Daily Living Alterations in Gait and Mobility among SCA3 population: Exploratory Study - Doctor Penina Ponger
2:10 PM - 2:15 PM Step Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results - Doctor Penina Ponger
2:15 PM - 2:30 PM Perspectives about Disease and Research of Aboriginal Australians living with Machado-Joseph Disease - Elizabeth Massey OAM
2:30 PM - 2:45 PM MJDhub: An online clinical monitoring and education platform for people with MJD - Doctor Louisa Selvadurai
2:45 PM - 3:45 PM Afternoon Break and Posters - Day 2
Cognition and Imaging
Chair: Professor Ian Harding
3:45 PM - 4:00 PM Invited Speaker: Associate Professor Ian Harding - Staging of Brain Degeneration in Spinocerebellar Ataxia Types 2 and 3
4:00 PM - 4:15 PM Cognition and its correlates in SCA 1, 2, 3, and 6 - Doctor Louisa Selvadurai
4:15 PM - 4:30 PM Sensitivity of advanced MRI to progression over 6 months in spinocerebellar ataxias - Doctor Thiago Rezende
4:30 PM - 4:45 PM Exploring cognitive phenotypes and extra-cerebellar pathology in a murine model of MJD - Doctor Katherine Robinson
4:45 PM - 5:00 PM End of Day 2 - Wrap Up
6:00 PM - 10:00 PM Conference Dinner
8:00 AM - 8:30 AM Conference Registration - Day 2
8:30 AM - 8:40 AM Welcome to MJD International Research Conference Day 2 - Hon Jenny Macklin AC
8:40 AM - 8:50 AM Guest Speaker: Deputy Minister for Health, Brian O’Gallagher
8:50 AM - 9:00 AM Guest Speaker: Shadow Minister for Health, Dheran Young
Culture and Communication
Chair: Associate Professor Deborah Theodoros
9:00 AM - 10:30 AM Invited Speaker: Doctor Rebecca Amery – Working together to develop augmentative and alternative communication (AAC) systems in Indigenous languages with Aboriginal families living with MJD in the Northern Territory
10:30 AM - 11:00 AM Morning Break - Day 2
Basic Science
Chair: Professor Marnie Blewitt
11:00 AM - 11:30 AM Using AI to Talk Better - Doctor Damien Howard & Daniel Lalara
11:30 AM - 11:45 AM Investigating potential causes of altered gut microbiome in Machado-Joseph disease mice - Associate Professor Angela Laird
11:45 AM - 11:50 AM Modulating ataxin-3 abundance using a novel high-throughput drug testing pipeline - Doctor Maxinne Watchon
11:50 AM - 12:05 PM Strategies for therapeutic restoration of diminished butyrate levels in Machado-Joseph disease - Prapti Chakraborty
12:05 PM - 12:20 PM Invited Speaker: Doctor Thorsten Schmidt - The Cholesterol Metabolism as Treatment Target For MJD
12:20 PM - 1:20 PM Lunch Break - Day 2
Clinical Research and Trial Readiness
Chair: Associate Professor David Szmulewicz
1:20 PM - 1:55 PM Invited Speaker: Doctor Sarah Milne - Rehabilitation for Hereditary Cerebellar Ataxia
1:55 PM - 2:10 PM Daily Living Alterations in Gait and Mobility among SCA3 population: Exploratory Study - Doctor Penina Ponger
2:10 PM - 2:15 PM Step Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results - Doctor Penina Ponger
2:15 PM - 2:30 PM Perspectives about Disease and Research of Aboriginal Australians living with Machado-Joseph Disease - Elizabeth Massey OAM
2:30 PM - 2:45 PM MJDhub: An online clinical monitoring and education platform for people with MJD - Doctor Louisa Selvadurai
2:45 PM - 3:45 PM Afternoon Break and Posters - Day 2
Cognition and Imaging
Chair: Professor Ian Harding
3:45 PM - 4:00 PM Invited Speaker: Associate Professor Ian Harding - Staging of Brain Degeneration in Spinocerebellar Ataxia Types 2 and 3
4:00 PM - 4:15 PM Cognition and its correlates in SCA 1, 2, 3, and 6 - Doctor Louisa Selvadurai
4:15 PM - 4:30 PM Sensitivity of advanced MRI to progression over 6 months in spinocerebellar ataxias - Doctor Thiago Rezende
4:30 PM - 4:45 PM Exploring cognitive phenotypes and extra-cerebellar pathology in a murine model of MJD - Doctor Katherine Robinson
4:45 PM - 5:00 PM End of Day 2 - Wrap Up
6:00 PM - 10:00 PM Conference Dinner

8:00 AM - 8:30 AM Conference Registration - Day 2
8:30 AM - 8:40 AM Welcome to MJD International Research Conference Day 2 - Hon Jenny Macklin AC
8:40 AM - 8:50 AM Guest Speaker: Deputy Minister for Health, Brian O’Gallagher
8:50 AM - 9:00 AM Guest Speaker: Shadow Minister for Health, Dheran Young
Culture and Communication
Chair: Associate Professor Deborah Theodoros
9:00 AM - 10:30 AM Invited Speaker: Doctor Rebecca Amery – Working together to develop augmentative and alternative communication (AAC) systems in Indigenous languages with Aboriginal families living with MJD in the Northern Territory
10:30 AM - 11:00 AM Morning Break - Day 2
Basic Science
Chair: Professor Marnie Blewitt
11:00 AM - 11:30 AM Using AI to Talk Better - Doctor Damien Howard & Daniel Lalara
11:30 AM - 11:45 AM Investigating potential causes of altered gut microbiome in Machado-Joseph disease mice - Associate Professor Angela Laird
11:45 AM - 11:50 AM Modulating ataxin-3 abundance using a novel high-throughput drug testing pipeline - Doctor Maxinne Watchon
11:50 AM - 12:05 PM Strategies for therapeutic restoration of diminished butyrate levels in Machado-Joseph disease - Prapti Chakraborty
12:05 PM - 12:20 PM Invited Speaker: Doctor Thorsten Schmidt - The Cholesterol Metabolism as Treatment Target For MJD
12:20 PM - 1:20 PM Lunch Break - Day 2
Clinical Research and Trial Readiness
Chair: Associate Professor David Szmulewicz
1:20 PM - 1:55 PM Invited Speaker: Doctor Sarah Milne - Rehabilitation for Hereditary Cerebellar Ataxia
1:55 PM - 2:10 PM Daily Living Alterations in Gait and Mobility among SCA3 population: Exploratory Study - Doctor Penina Ponger
2:10 PM - 2:15 PM Step Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results - Doctor Penina Ponger
2:15 PM - 2:30 PM Perspectives about Disease and Research of Aboriginal Australians living with Machado-Joseph Disease - Elizabeth Massey OAM
2:30 PM - 2:45 PM MJDhub: An online clinical monitoring and education platform for people with MJD - Doctor Louisa Selvadurai
2:45 PM - 3:45 PM Afternoon Break and Posters - Day 2
Cognition and Imaging
Chair: Professor Ian Harding
3:45 PM - 4:00 PM Invited Speaker: Associate Professor Ian Harding - Staging of Brain Degeneration in Spinocerebellar Ataxia Types 2 and 3
4:00 PM - 4:15 PM Cognition and its correlates in SCA 1, 2, 3, and 6 - Doctor Louisa Selvadurai
4:15 PM - 4:30 PM Sensitivity of advanced MRI to progression over 6 months in spinocerebellar ataxias - Doctor Thiago Rezende
4:30 PM - 4:45 PM Exploring cognitive phenotypes and extra-cerebellar pathology in a murine model of MJD - Doctor Katherine Robinson
4:45 PM - 5:00 PM End of Day 2 - Wrap Up
6:00 PM - 10:00 PM Conference Dinner

Friday, May 9, 2025

8:00 AM - 8:30 AM Conference Registration - Day 3
8:30 AM - 8:40 AM Welcome to MJD International Research Conference Day 3 - Hon Jenny Macklin AC
Innovative Approaches to Working with Indigenous Populations
Chair: Doctor Howard Flavell
8:40 AM - 10:10 AM Invited Speaker: Associate Professor Courtney Ryder - Workshop - Strength-based knowledge systems, innovation science and practice since time immemorial
10:10 AM - 10:15 AM Developing a functional Indigenous Data Stewardship Model for Genomics - Associate Professor Kalinda Griffiths
10:15 AM - 10:30 AM Acceptability, Access and Equity: Issues associated with using Assisted Reproductive Technology - Elizabeth Massey OAM
10:30 AM - 11:30 AM Morning Break and Posters - Day 3
11:30 AM - 1:00 PM Patient Forum Q&A
1:00 PM - 1:45 PM Lunch Break - Day 3
1:45 PM - 2:00 PM Closing Remarks
8:00 AM - 8:30 AM Conference Registration - Day 3
8:30 AM - 8:40 AM Welcome to MJD International Research Conference Day 3 - Hon Jenny Macklin AC
Innovative Approaches to Working with Indigenous Populations
Chair: Doctor Howard Flavell
8:40 AM - 10:10 AM Invited Speaker: Associate Professor Courtney Ryder - Workshop - Strength-based knowledge systems, innovation science and practice since time immemorial
10:10 AM - 10:15 AM Developing a functional Indigenous Data Stewardship Model for Genomics - Associate Professor Kalinda Griffiths
10:15 AM - 10:30 AM Acceptability, Access and Equity: Issues associated with using Assisted Reproductive Technology - Elizabeth Massey OAM
10:30 AM - 11:30 AM Morning Break and Posters - Day 3
11:30 AM - 1:00 PM Patient Forum Q&A
1:00 PM - 1:45 PM Lunch Break - Day 3
1:45 PM - 2:00 PM Closing Remarks

8:00 AM - 8:30 AM Conference Registration - Day 3
8:30 AM - 8:40 AM Welcome to MJD International Research Conference Day 3 - Hon Jenny Macklin AC
Innovative Approaches to Working with Indigenous Populations
Chair: Doctor Howard Flavell
8:40 AM - 10:10 AM Invited Speaker: Associate Professor Courtney Ryder - Workshop - Strength-based knowledge systems, innovation science and practice since time immemorial
10:10 AM - 10:15 AM Developing a functional Indigenous Data Stewardship Model for Genomics - Associate Professor Kalinda Griffiths
10:15 AM - 10:30 AM Acceptability, Access and Equity: Issues associated with using Assisted Reproductive Technology - Elizabeth Massey OAM
10:30 AM - 11:30 AM Morning Break and Posters - Day 3
11:30 AM - 1:00 PM Patient Forum Q&A
1:00 PM - 1:45 PM Lunch Break - Day 3
1:45 PM - 2:00 PM Closing Remarks


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