New insights in the genetics of FH

Mafalda Bourbon is a senior researcher at the National Institute of Health in Portugal (INSA), where she serves as the coordinator of the R&D Unit and Head of the Cardiovascular Research Group within the Department of Health Promotion and Prevention of Non-Communicable Diseases. As a leading researcher in the field of genetics of familial hypercholesterolemia (FH), her work has significantly enhanced the identification, functional characterization, and interpretation of variants found in patients with a clinical diagnosis of FH and other dyslipidemias.

In this lecture, she will explore the most recent advances in the genetic diagnosis of FH.

Mafalda Bourbon

PhD

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