NCM Boston
NCM Boston
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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.29046Saffie 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.29390Saffie 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