London Calling 2025 - Speakers
Speakers
Check out the line up of speakers at London Calling 2025.
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Oxford Nanopore Technologies
Paula Saffie-Awad
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- Job title
- Institution
- Santa Maria Clinic, Chile
- Biography
Dr Paula Saffi-Awad is an MD, PhD, and movement disorders neurologist specializing in hereditary neurodegenerative diseases since 2016. Her recent research focuses on Parkinson's disease genetics, exploring both monogenic and polygenic contributions. She is dedicated to simplifying the diagnostic journey for patients with rare diseases in Chile through innovative, cost-effective, and accessible genetic approaches. With expertise spanning from DNA extraction to bioinformatics, her work aims to bridge gaps in diagnosis and improve outcomes for underrepresented populations.
- Recent publications
Saffie-Awad, P. et al. Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis. Movement Disorders 39(1):6–16 (2023).
DOI: 10.1002/mds.29614Tan, A.H. et al. Genetic Testing for Parkinson’s Disease and Movement Disorders in Less Privileged Areas: Barriers and Opportunities. Movement Disorders Clinical Practice 11(1):14–20 (2023).
DOI: 10.1002/mdc3.13903Saffie-Awad, P. et al. Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family. Movement Disorders 38(6):1107–1109 (2023).
DOI: 10.1002/mds.29390
Talks at this conference
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