KEYNOTE speakers ANNounced!
MORE COMING SOON!
Jorge Sequeiros, MD, PhD
Jorge Sequeiros is a clinical geneticist and full professor of Medical Genetics at ICBAS, University of Porto; group leader of UnIGENe (a research unit on genetics and epidemiology of late-onset neurological diseases) and director of CGPP (the Centre for Predictive and Preventive Genetics, providing genetic services to the community), both at IBMC - Institute for Molecular and Cell Biology, now part of i3S - Instituto de Investigação e Inovação em Saúde, also at the University of Porto. He has been involved for several decades in the study of MJD and other spinocerebellar ataxias (SCAs), as well as other hereditary neurological diseases. His main interests are genetic testing, genetic counselling, quality of genetic services, public and professional issues of genetics, and psycho-social and ethical aspects particularly in presymptomatic testing and prenatal diagnosis of late-onset neurological diseases, as well as historical genetics particularly of MJD. He will present on his knowledge and experience with patient organizations, since the early times of the first descriptions of MJD.
Luís Pereira de Almeida, PhD
Dr. Luís Pereira de Almeida's group develops and uses viral vectors to study the pathogenesis of neurodegenerative diseases, with a focus on Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD). To study this and other disorders, his lab group uses lentiviral and adeno-associated viruses, which are powerful technological platforms for gene delivery to the Central Nervous System. Dr. Pereira de Almeida's lab expects to generate disease-modifying approaches for MJD and other neurodegenerative diseases. Encouraging results have already been obtained with the strategies of gene silencing, autophagy activation, proteolysis inhibition, adenosine receptor blockage and modulation of the interaction of ataxin-3 with other polyglutamine proteins. It is expected that these studies will contribute to finding new therapies for this devastating disorder for which no effective therapy is available.
Professor Laura Jardim, MD, PhD
Dr. Jardim is a professor of the Department of Internal Medicine at UFGRS in Brasil where she conducts research and teaching activities as chief of the Genetic Medicine Service at the Hospital de Clínicas de Porto Alegre. Dr. Jardim is the PI of the Neurogenetic Research Group of UFRGS. Her clinical publications on Machado-Joseph disease covered epidemiology, neurological manifestations and progression rate, the design of a clinical scale (NESSCA), statistical modeling of natural history studies, survival estimates, the impact of pre-symptomatic testing, and clinical trials on symptomatic and on potential disease modifying drugs. Laura has also co-authored the book Polyglutamine Disorders.
Dr Angela Laird, PhD
Dr. Laird studies the pathogenesis of movement disorders with a particular focus on identifying and testing potential disease treatments. Her group has been successful at producing and characterising the world’s first zebrafish model of spinocerebellar ataxia type-3 (also known as Machado Joseph Disease, MJD). They are currently testing the effect of various drugs on these zebrafish with the aim of identifying a treatment for the disease. She will present on her research in addition to working collaboratively with patients, families and advocacy organisations.
Dr Tomer Hillel, PhD
Dr. Hillel is Chairman of the Israeli Machado-Joseph Association, co-host of the 2019 International MJD Research Conference. Dr. Hillel is a materials engineer experienced in marine engineering who obtained his PhD from the Technion. Tomer will present on Yemenite-Jewish families with Machado–Joseph disease and lifestyle interventions for MJD/SCA3.
Conference Topics to include:
- Contextual Care: issues and innovation in MJD care in low resourced and culturally complex contexts
- Clinical Research & Practice
- Clinical Trials: questions, access, equity and issues concerning clinical trials for MJD
- Natural History and cohort studies
- Diagnostic, therapeutic and rehabilitative services: engagement and delivery of services
- Pre-clinical and Drug therapies: information, advances and collaboration
- Gene therapies: current knowledge, innovations and best practice/ethical considerations
- Drug compounds and other therapies
- Disease mechanisms: Pathogenesis, biomarker studies
- Patient Panel
- Workshops for Clinicians and Researchers by discipline