PerMed FH - Personalising diagnosis and treatment for Familial Hypercholeserolaemia patients

Work Packages

Advancing Innovation at Every Stage of PerMed FH Project

To bring personalised medicine to patients with FH, PerMed FH is based on 6 work packages:

Better understanding of the genetic variants

  • Functional characterisation of variants of unknown significance in LDLR, APOB and PCSK9 genes
  • Variant classification for diagnosis

Addressing the need to improve patient treatment

  • Implementation of a platform for drug optimisation (statins, PCSK9 inhibitors)
  • LDLR functionality assay and analysis

Identifying novel compounds

  • Drug screen (incl. analysis, optimisation and validation)

Variant Platform

  • Interactive
  • ACMG-classified
  • Development of a ready to use variant platform that can inform an accurate diagnosis and personalised treatment 

Design of a strategy for PM in health care settings

  • Delphi study
  • Focus groups

Support functions

  • Project management, communication, reporting
  • Financial and administrative management
  • Intellectual property
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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.
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