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 Full Professor at the Department of Internal Medicine, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil. She is a physician scientist who identified the founder effect and cluster of a large population of spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD) in south Brazil. Thanks to her studies, SCA3/MJD is known to have a relatively high local prevalence (7: 100,000), with more than 600 live patients and approximately 1,500 people at risk in that region. Since 2001, she has been the PI of the Neurogenetics Research Group at her institution. Her study group raised original evidence about the effect of mutation on the fecundity of carriers; the preferential segregation of the mutant allele during conception; population-specific effects that modify the age of onset regardless of causal mutation; the various neurological manifestations and their correlations with causal factors; the natural history of disease as measured by NESSCA scale; potential biomarkers; and safety and efficacy of lithium on neurological progression in a randomized, investigator-initiated (non-industry-funded) trial. Since 2008, Dr. Jardim established Rede Neurogenetica (www.redeneurogenetica.ufrgs.br), a Brazilian network that allowed the diagnosis of several SCAs in Brazil and Peru. After that, her group was able to study the natural history and genetic characteristics of SCA2, SCA7, SCA10, Huntington disease, Friedreich disease and other neurogenetic disorders commonly found in Latin America.
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
- Interdisciplinary Workshop for Clinicians and Researchers