Personalised medicine tools to improve early diagnosis of familial hypercholesterolaemia

Mafalda Bourbon

  • PROJECT LEADER

    Mafalda Bourbon

  • HOST ORGANIZATION,
    COUNTRY

    Instituto Nacional de Saúde Dr Ricardo Jorge and BioISI - Instituto de Biossistemas e Ciências Integrativas, Lisbon, Portugal

  • DESCRIPTION

    Familial hypercholesterolaemia (FH) is the world’s most common monogenic disorder, affecting 2.5 million Europeans, with 2 million adults and 500,000 children, and is caused by a defect on chromosome 19. The defect makes the body unable to remove a compound from the blood, low-density lipoprotein (LDL), commonly known as the ‘bad’ cholesterol. This compound accumulates in the arteries from birth and poses a very high risk of developing cardiovascular disease at an early age. In fact, compared to the general population between the ages of 20 and 40, these individuals are twenty times more likely to develop significant cardiac complications, such as angina or myocardial infarction.

    Early diagnosis enables appropriate management to be applied from childhood and is crucial to reduce the likelihood of suffering a heart attack and other cardiovascular health issues. In this regard, researchers in the current project will develop tools to better classify those affected based on their gene defect and protein function, stratifying their cardiovascular risk and allowing for selection of the best treatment for each individual. These personalised medicine tools can be integrated into clinical protocols to provide early diagnoses and the implementation of effective management measures to prevent premature cardiovascular diseases and death, thereby promoting cardiovascular health and improving the quality of life and life expectancy of the affected individuals.

  • PARTNER ORGANIZATIONS

    • Dr Simon Pfisterer, University of Helsinki, Finland

    • Professor Eric Sijbrands, University Hospital Rotterdam, the Netherlands

    • Professor Gilles Lambert, University of La Réunion Medical School Saint Pierre (Réunion Island), France

  • PROJECT TITLE

    Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients

  • BUDGET

    €999,912.00

    *Project awarded in collaboration with the Fundação para a Ciência e a Tecnología