MJD Foundation

2019 International Machado Joseph Disease Research Conference - Washington, DC USA

MJD Conf Washington Group Shot 2

In response to a question posed in the patient panel for the recent International Machado Joseph Disease Research Conference, respected neuroscientist Professor Luis Almeida noted that “we actually live in exciting moments in terms of planning new therapies… some years ago you would not have seen all these different approaches that we know are very promising because they were effective in the animal models… today if you look around you see that there are people from different (pharmaceutical) companies who are here in this meeting and this is a fantastic sign, they are interested, they believe that the technologies that have developed over the last few years will work and be effective and will alleviate the disease..  so I think that we should have a positive view  –we have never had such a good moment as we have now…”

For participants of the meeting and those they represent who are living with Machado-Joseph disease (MJD) – the most common spinocerebellar ataxia worldwide, these are welcome words indeed.  While it is not possible to put an exact time frame on the development of a treatment, there was ample evidence in the packed program of marked progress in molecular and gene therapies.  This  brings with it the need to focus on ensuring people living with MJD are ‘trial ready’ and that clinicians and lab scientists are able to identify and utilise appropriate biomarkers of the disease.   

The conference was held in Washington DC on the 12th and 13th of November as a satellite of the third International Ataxia Research Conference (IARC) held from November 14th-16th.  Researchers from ten countries attended and presented outcomes correlated with 5 themes:  Contextual care and innovation in MJD care in low resourced and culturally complex contexts; Pre-clinical and Drug therapies - information, advances and collaboration; Gene therapies; Disease mechanisms: Pathogenesis & Biomarkers and Clinical research and practice.

MJD Foundation Chairperson Neil Westbury and Vice Chairperson Gayangwa Lalara along with Director for Research & Education Libby Massey and several MJDF staff, (one client and 3 therapists) made the long trip from Australia and were enthusiastic about the strong positive messages that can be brought home.  Neil thanked the presenters for their commitment and particularly noted the importance of ongoing international collaborations across all spheres of disease management and treatment.  

The conference was supported by  GEMCO (South 32), The Telstra Foundation, ALCGEAT, the Lowitja Institute and James Cook University,   and would not have been possible without the superb efforts of the Scientific committee: Jorge Sequeiros, Thorsten Schmidt, Manuela Lima, Luis Pereira de Almeida, Laura Bannach Jardim, Patricia Maciel, Tomer Hiller, Libby Massey and Desireé La Grappe.  The organisers of IARC - Ataxia UK, FARA (USA) and NAF (USA) - also provided invaluable advice and support.


Welcome from Hosts

Day 1MJD Foundation, Mr. Neil Westbury PSM & Israeli Machado-Joseph Association, Dr. Tomer Hillel
Day 2MJD Foundation & Israeli Machado-Joseph Association

Key Note Speakers

- Professor Jorge Sequeiros Patient Associations and MJD: from the IJDF to the MJDF (read on behalf of Professor Jorge Sequeiros: minutes 16:30 - 22:00)
2 - Dr. Tomer HillelIsraeli Machado-Joseph Association & Lifestyle Interventions in MJD 
3 - Dr. Angela LairdDrug Discovery, Collaboration with patients & Research Dissemination
4 - Prof. Luis Perriera de AlmeidaGenetic Therapies for MJD 
5 - Prof. Laura JardimClinical Research & Biomarkers

Oral Presentations

Ms. Libby Massey OAMMJDF Australia – ‘our way’ models of client led support and engagement in remote Aboriginal Australia
2 (I) - Ms. Jen Carr &
Ms. Joyce Lalara 

Staying Strong Toolbox for Aboriginal families with MJD in the Top End of Australia
2 (II) - Ms. Rebecca Amery &
Ms. Alison Grootendorst
The MJD Foundation Communication Group: Building understanding and exploring culturally-responsive ways to support communication opportunities for people living with MJD
3 - Álvaro MendesLiving with or at risk for Machado-Joseph disease in a community of the Tagus valley, Portugal: making decisions about pre-symptomatic testing and reproductive risks
4 - Dr. Mario Cornejo-OlivasExtended pedigrees of Machado-Joseph disease in Peruvian population 
5 - Ana Vasconcelos-FerreiraReinstating levels of dysregulated authophagy-associated transcripts alleviates neuropathology and motor impairments of mouse models of Machado-Joseph Disease
6 - Dr. Angela LairdTreatment with HDAC inhibitor compounds is protective for models of MJD 
7 - Andreia Teixeira-CastroSerotonergic signaling activation suppresses proteotoxicity
8 - Dr. Patrícia MacielDisease-modifying therapies for MJD: lessons from preclinical trials
9 - Ms. Sara LopesCRISPR-Cas9 systems targeting ATXN3 as therapeutic approaches for Machado-Joseph Disease
10 - Mafalda RaposoNovel genetic modifiers of Machado-Joseph disease (MJD/SCA3) identified by whole-exome sequencing 
11 - Dr. Hayley McLoughlinNonneuronal contributions to SCA3 disease pathogenesis
12 - Dr. Thorsten SchmidtThe importance of the ATXN3 haplotype status for the pathophysiology of MJD/SCA3
13 - Ms. Priscila Pereira SenaLess sugar, please! Reducing O-GlcNAcylation alleviates the molecular pathology in Machado-Joseph disease
14 - Dr. Patrícia MacielRegulation of neuronal mRNA splicing and Tau isoform ratio by ATXN3 through deubiquitylation of splicing factors
15 - Dr. Maria do CostaDruggable genome screen identifies new regulators of the abundance and toxicity of ATXN3, the Machado-Joseph disease protein
16 - Dr. Hector Garcia-MorenoBlood biomarker quantification in SCA3 samples using the Neurology 4-PLEX A kit and the Simoa technology
17 - Prof. Carlos GordonVestibulo-Ocular Reflex impairment in Machado-Joseph disease: A possible biomarker of the disease
19 - Prof. Marcondes França JrProgression and size effect of structural changes in SCA3/MJD: A longitudinal in multimodal neuroimaging
20 - Dr. Sandra MartinsThe Joseph and Machado lineages and their sublineages in families with Machado-Joseph disease spread worldwide
21 - Ms. Camila Maria de OliveiraEye movements measured by video-oculography as biomarkers of pre-clinical stages in Machado-Joseph disease/Spinocerebellar ataxia type 3 (BIGPRO Study)

Fire Talks

1 - Dr. Maxinne Watchon
Inducing the autophagy pathway as a potential treatment option for Machado-Joseph disease 
2 - Ms. Katherine RobinsonTreatment with sodium butyrate induces autophagy activity in cell culture models of Machado Joseph Disease 
- Mrs. Joana Pereira-SousaTargeting of the serotonin (1A) receptor suppresses mutant ataxin-3 pathogenesis in C. elegans
- Ms. Gabriela BolzanQuality of Life displays changes in preclinical phases of Machado-Joseph Disease/Spinocerebellar Ataxia type 3 (BIGPRO Study) 
5 - Ms. Ana Rosa MeloSearching for modifier effects of variation in Untranslated Regions (UTR) of the ataxin-3 gene (ATXN3) in Machado-Joseph disease (MJD): a pilot study 
6 - Mr. Yun PengPreliminary detection and analysis of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado–Joseph disease 
7 - Dr. Jonasz Jeremiasz WeberCalpain-1 ablation ameliorates molecular disease hallmarks in cell and mouse models of Machado-Joseph disease 
8 - Ms. Ana Filipa FerreiraExpression Signatures of the apoptosis-related BCL2 AND BAX in blood and brain of Machado-Joseph disease subjects and transgenic mice 
9 - Dr. Patrícia MacielMicroglial and astrocytic pathology in a mouse model of Machado-Joseph disease
Panel and Workshop

Patient & Family Panel
Interdisciplinary WorkshopChallenges and Prospects in the Future of MJD Research & Clinical Care
Closing Remarks

Closing Remarks MJD Foundation & Israeli Machado-Joseph Association

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