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Oxford Nanopore Technologies

Paula Saffie

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Job title
Institution
Clinica Santa María, Chile
Biography

Paula Saffie is a Chilean MD, pursuing a PhD in Brazil with a Michael J. Fox Foundation grant to study the genetics of Parkinson's disease in Chile and southern Brazil. In 2016, we diagnosed the first ARSACS case in Chile after the patient had sought a diagnosis for 16 years, which motivated her to study undiagnosed cases. After a diagnostic odyssey for a family from southern Chile, we reported the first FGF14 expansions in Latin America. During her PhD, Paula has learned skills from DNA extraction to programming; and now aims to gain training and experience in long-read sequencing to potentially shorten the diagnostic journey for many patients.

Recent publications

Gama, M.T.D. et al. Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients. Mov Disord. 37(8):1773–1774 (2022).
DOI: 10.1002/mds.29046

Saffie Awad, P. et al. Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family. Mov Disord. 38(6):1107–9 (2023).
DOI: 10.1002/mds.29390

Saffie P. et al. Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS. Neurology 89(14):e178-e179 (2017).
DOI: 10.1212/WNL.0000000000004556

Talks at this conference