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Paula Saffie Awad, MD, PhD

Clinica Santa Maria

Santiago, Chile

Biography

With a 10-year career in neurology, I have established myself as a subspecialist in movement disorders, currently practicing at Clínica Santa María. I completed my doctorate in October 2024, funded by The Michael J. Fox Foundation, in Porto Alegre, Brasil, with the supervision of Prof. Artur Schuh and co-supervision of prof. Christine Klein. My focus on rare disease research has sharpened my ability to build bridges and pioneer advancements in underdeveloped areas within Chile.

Outputs and publications by Paula Saffie Awad, MD, PhD

Evaluating the performance of polygenic risk profiling across diverse ancestry populations in Parkinson’s disease
Study evaluates polygenic risk score models using 90 risk variants from 78 loci associated with Parkinson’s disease across seven ancestry groups to improve risk prediction accuracy and address disparities.
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Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family
Discovery of intronic GAA repeat expansions in FGF14 gene and biallelic expansions in RFC1 gene have increased diagnostic yield in ataxia, improving detection rates from <50% with exome sequencing.
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Chapter 9 - LRRK2: Genetic mechanisms vs genetic subtypes
LRRK2 G2019S is a common cause of Parkinson's disease (PD), with variable prevalence. Variants may increase kinase activity, while some could reduce PD risk, offering potential for precision medicine in PD treatment.
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