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Published on: June 14, 2020
Basic Science and Pathogenesis
Ezequiel Ignacio Surace1, Leonardo Romorini2, Mariela Marazita2
1Institute of Neurosciences (INEU), Fleni-CONICET, Buenos Aires, Buenos Aires, Argentina.
This research explores neurodegenerative diseases like Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS) in Latin America. It highlights advancements in genetic analysis and patient-derived cell models for better understanding and diagnosis.
Area of Science:
- Neuroscience
- Genetics
- Biomarker Research
Background:
- Established 14 years ago in Buenos Aires, Argentina, the lab is a regional hub for Latin America.
- Focuses on familial and sporadic cases of Alzheimer's disease (AD), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS).
Purpose of the Study:
- To deepen insight into complex pathophysiological mechanisms of neurodegenerative diseases in diverse populations.
- To discuss challenges in technological advancements and the importance of international collaboration.
Main Methods:
- Incorporation of cerebrospinal fluid AD biomarker analysis into clinical diagnostics.
- Genetic counseling and study of novel genetic variants.
- Development of patient-derived cell models using induced pluripotent stem cell technology.
Main Results:
- Pioneered early adoption of AD biomarker analysis in the region.
- Advanced research in genetic variants and patient-derived cell models for AD, FTD, and ALS.
- Contributed to understanding neurodegenerative disease mechanisms through regional and international collaborations.
Conclusions:
- Emphasizes the critical role of international collaboration in advancing local and global knowledge of neurodegenerative diseases.
- Highlights the ongoing challenges and importance of staying at the forefront of technological advancements in the field.
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