PerMed FH - Personalising diagnosis and treatment for Familial Hypercholeserolaemia patients

Studies, Data & Research

Driving scientific progress and delivering innovation for FH patients and families.

Functional Studies in LDLR to Improve Genetic Diagnosis in Familial Hypercholesterolemia

Author(s): Ana Catarina Alves
Congress: 59th Annual Scientific Meeting of the European Society for Clinical investigation
Date/Location: Genoa, Italy, 21st – 23rd May 2025
Download

POSITION MATTERS: FUNCTIONAL EFFECTS OF LDLR NONSENSE VARIANTS

Author(s): Ana Catarina Alves
Congress: 94th Congress of the European Atherosclerosis Society (EAS 94)
Date/Location: 22-27 May 2026/ Athens, Greece
Download

Variant-Specific Drug Responses in FH: an Ex Vivo Pilot Study

Author(s): Rafael Graça
Congress: 94th Congress of the European Atherosclerosis Society (EAS 94)
Date/Location: 22-27 May 2026/ Athens, Greece
Download

FROM SCREENING TO PRECISION CARE: VALIDATING BORDERLINE LDLR VARIANTS THROUGH FLOW CYTOMETRY

Author(s): Maria Ferreira
Congress: 94th Congress of the European Atherosclerosis Society (EAS 94)
Date/Location: 22-27 May 2026/ Athens, Greece
Download

Development of gene-specific ACMG/AMP guidelines for the interpretation of APOB and PCSK9 variants in Familial Hypercholesterolemia

Author(s): Joana Chora
Congress: 93rd European Atherosclerosis Society (EAS) congress
Date/Location: Glasgow, UK
Download
The project leading to these results has received funding from “la Caixa” Foundation and FCT, I.P. under the project code: LCF/PR/HP23/52330032. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the "la Caixa" Foundation or the FCT. Neither "la Caixa" Foundation nor the FCT can be held responsible for them.
© 2026 - PerMed FH