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Program






Keynote Speakers

Dr Angela Laird
Dr Angela Laird leads an MJD research group at the University of Sydney (ANZAC Research Institute and the Brain and Mind Research Institute). After her post-doctoral work using transgenic zebrafish within a leading Motor Neuron Disease laboratory at the University of Leuven, Belgium, Angela returned to Australia to establish the world’s first MJD zebrafish model, funded by the MJDF. Her group has been successful at producing and characterising MJD zebrafish and are currently testing the effect of various drugs on these fish with the aim of identifying potential MJD treatments.

Angela has regularly welcomed MJD patients and families to the Sydney research facility to see the MJD zebrafish. In 2012 Angela visited Groote Eylandt and presented an introduction to the zebrafish project.





Jorge Sequeiros
Jorge Sequeiros is a leading international specialist in Machado Joseph Disease and other hereditary ataxias, from the Univ. Porto. He works on MJD since 1977, in Portugal,USA, France and Canada. He is a clinical geneticist and research group leader, with major interests on genetic counseling and testing, genetic epidemiology, historical genetics, quality and regulation of genetic services, psychosocial aspects, ethics and public policies. He has been interested and leading a project on the origins of the MJD mutation(s) for over 30 years. He is the author or co-author of over 250 scientific papers (including three chapters in reference books on hereditary ataxias and more than 180 original articles in international journals). He had several leading functions at the ESHG; and in working groups at the EC, OECD, ESHRE, EASAC/FEAM and the WFN. He created and organized the external quality assessment scheme for genetic testing of the SCAs, for EMQN (2004-14).

Jorge attended and made an addressal at the 2008 launch of the MJD Foundation on Groote Eylandt (Australia). He is a member of the MJDF’s Research Advisory Committee, since its inception.

 


Tony Wurramarrba AO
Tony Wurramarrba is a Warnindilyakwa man of Groote Eylandt.  He is the Chairperson of the Anindilyakwa Land Council (ALC) and a founding Board member of the MJD Foundation. The ALC under Tony’s leadership has developed into a strong Land Council who focus on securing a future for their own people. The ALC committed  $1,000,000 in funding to the MJDF research fund in 2009 demonstrating incredible leadership in investing in research for the benefit of Indigenous Australians living with Machado Joseph Disease from Groote Eylandt archipelago.




Program
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Floor Plan

 Thursday 27th August

5:00pm

Registration table is open – Rydges Esplanade Hotel, Cairns QLD

6:00pm – 7:30pm

Welcome cocktail event – Fire & Ice Terrace, Rydges Esplanade Resort, Cairns Qld


Friday 28th August

07:30

Registration table is open – Rydges Esplanade Hotel, Cairns QLD

Room

Joseph Banks Ballroom

08:30

Welcome from hosts – MJD Foundation

08:40

Welcome to Country

08:45

Key note speaker – Genetics, history and historical genetics of MJD Professor Jorge Sequeiros

09:45

Plenary presentation – Machado Joseph disease: current treatment – Laura Jardim, Jonas Saute

10:15

Plenary presentation – Motor dysfunction in transgenic MJD zebrafish – Angela Laird (part 1 – for all delegates)

10:45

Morning tea – and posters

Room

Joseph Banks Ballroom

Golden Palm Room

Concurrent Sessions

Stream 1 – Disease Mechanisms

Stream 2 – Living with MJD – Client case studies, Health Services and Public Health

11:15

Analysis of proteasomal impairment in MJD using transgenic mice - Jana Schmidt

Fatigue and its Non-Motor determinants in Machado-Joseph Disease(SCA3) – Alberto Martinez

11:50

Controlling the intracellular localization of ataxin-3 as novel treatment approach for Machado-Joseph disease – Thorsten Schmidt

Piloting a Genetic Literacy Assessment Tool for Indigenous Australians – Kristine Barlow-Stewart

12:25

Impaired Vestibulo-Ocular Reflex (VOR) in Machado-Joseph Disease: A possible disease biomarker?
Carlos Gordon

Access to Mental Health Services and Case-management / family support as a culturally recognised, effective approach
Desireé LaGrappe

13:00

Gene expression analysis of the human brain as a route to SCA3 pathways and biomarkers – Conceição Bettencourt

Co-creating knowledge to transform lives – Hitnet’s approach to knowledge creation and dissemination in Indigenous Australia
Helen Travers

13:35

Lunch – and posters

Room

Joseph Banks Ballroom

Golden Palm Room

Concurrent Sessions

Stream 1 – Disease Mechanisms

Stream 2 – Living with MJD – Client case studies, Health Services and Public Health

14:35

Motor dysfunction in transgenic MJD zebrafish – Angela Laird (part 2 - scientific)

A retrospective review of the frequency and characteristics of sleep disorders in a population of the Northern Territory Indigenous Australians with Machado-Joseph Disease – Anuk Kruavit

15:10

Physiological and pathophysiological properties of ataxin-3 isoforms – Daniel Weishaupl

Practical considerations for the prescription of wheelchairs for people with Machado Joseph Disease – Simone McGrath

15:45

Afternoon tea – and posters

Room

Joseph Banks Ballroom

16:15

Plenary session – Interactive PANEL Discussion – The direction of MJD research – a world of hope

Jorge Sequeiros; Libby Massey; Laura Jardim; Jonas Saute; Angela Laird; Carlos Gordon; Patricia Maciel; Luis Pereira de Almeida; Conceição Bettencourt

18:00

Conference dinner

 

Saturday 29th August

08:30

Registration table is open – Rydges Esplanade Hotel, Cairns QLD

Room

Joseph Banks Ballroom

09:00

Key Note Speaker – Groote Eylandt Traditional Owners leading the efforts in funding research - Tony Wurramarrba AO

09:30

Plenary presentation - Clinical and Genetic Features of Machado-Joseph Disease (MJD) in a Yemenite Jewish Subpopulation –
Carlos Gordon

10:00

Morning tea – and posters

Room

Joseph Banks Ballroom

Golden Palm Room

Concurrent Sessions

Stream 1 – Disease Mechanisms

Stream 2 – Living with MJD – Client case studies

10:45

Using a transgenic zebrafish model of MJD to study the cause of ataxin-3 cleavage in MJD – Maxinne Watchon

MJD Global Effort to Find a Cure – Tomer Hillel

11:20

Drug discovery for Machado-Joseph disease: preclinical studies - Patricia Maciel

Physiotherapy with Indigenous MJD clients in East Arnhem Land – a Client Centred Approach – Nick Kenny

11:55

The effect of deep repetitive Transcranial Magnetic Stimulation (rTMS) on Spinocerebellar Ataxia type 3 (SCA-3): Preliminary results - Carlos Gordon

Families helping families – Genetics, Culture and Machado Joseph Disease in remote Australia - Libby Massey / Sarah MacMillan

12:30

Lunch – and posters

Room

Joseph Banks Ballroom

13:40

Association study between CAG repeats of PolyQ related genes and SCA3/MJD – Hong Jiang

14:15

From gene therapy to autophagy activation as promising therapeutic strategies for Machado-Joseph disease -
Luis Pereira de Almeida

14:50

Pluripotent models of MJD and HD – Malka Nissim-Rafinia

15:15

Preliminary results of intravenous trehalose for the treatment of Spinocerebellar Ataxia type 3 (SCA3) - Carlos Gordon

15:45

Afternoon tea – and posters

Room

Joseph Banks Ballroom

16:15

Dystonia in SCA3: clinical profile, response to treatment and neuroanatomical substrate – Alberto Martinez

16:50

Plenary session – open discussion

17:30

Conference close

 

Please note: Program is correct at the time of publication. However, it is subject to change at any time without notification.
 
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Vicki Dwyer,
Aug 23, 2015, 4:18 PM