Permed FH is a transformative initiative with a clear mission: to bring the power of personalised medicine to individuals and families affected by familial hypercholesterolaemia (FH). By integrating advanced genomic tools, high-throughput variant analysis, targeted drug screening, and digital innovation, Permed FH is paving the way toward truly individualised care.
This project isn’t just about improving treatment—it’s about changing the course of lives. For future generations, it means earlier diagnosis, more effective therapies, and the ability to prevent severe cardiovascular events before they ever occur. With Permed FH, we move from one-size-fits-all medicine to a precision approach where each patient’s genetic makeup guides their care.
This is a bold step toward a future where no child inherits a preventable risk without a solution—and no family faces the burden of FH without hope.
Familial hypercholesterolaemia (FH) affects 1 in 300 people, causing dangerously high cholesterol levels from birth and raising the risk of early heart attacks up to 20-fold.
In 90% of cases, a pathogenic variant in the LDLR gene is responsible—but many of these variants remain unclassified, leaving patients undiagnosed and untreated.
Existing therapies can be effective, but their success depends on the specific genetic defect—making personalised treatment not just beneficial, but essential.
Permed FH aims to develop tools for the implementation of personalised medicine in FH. By enabling targeted treatment based on specific genetic variants, Permed FH will enhance diagnosis, improve treatment outcomes, reduce side effects, and support patient adherence, ultimately leading to better management and health outcomes for FH patients.
Establishing a high-throughput pipeline for variant classification.
Developing a platform for drug optimisation tailored to individual genetic profiles.
Screening novel therapies targeting LDLR transport defects.
Creating a digital platform to integrate genetic, functional, and pharmacological data for clinical use.
Permed FH is structured into six interconnected work packages (WPs), each aligned with the core objectives of the research initiative. These include the functional characterisation of variants of unknown significance, the development of a drug optimisation platform, drug screening, digital health solutions, and strategic design for personalised medicine.
The sixth WP focuses on essential support functions, encompassing project management, financial oversight, administration, communication, and intellectual property management.
Together, these work packages are designed to deliver personalised, patient-centred solutions for individuals with familial hypercholesterolaemia, ultimately aiming to improve health outcomes and quality of care.
