Day: November 11, 2024

Addressing Rare Genetic Diseases: Insights from Paula Saffie

Paula Saffie from Clinica Santa Maria in Chile presented at the Nanopore Community Meeting in Boston on “Long-read sequencing: bridging the diagnostic gap for undiagnosed cases in Chile.” Saffie is a clinician and is working on a Ph.D. in Parkinson’s. Saffie wants to study the genetic diseases that their patients suffer. They spoke about rare […]
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