ProgerOmics: Identification of biomarkers to monitor the progression of Hutchinson-Gilford progeria syndrome

Joint Transnational Call 2022 (JTC2022)

ProgerOmics: Identification of biomarkers to monitor the progression of Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare genetic disease (prevalence 1 person in 18 million) characterized by accelerated aging and premature death and for which there is currently no cure. Patients appear normal at birth and are typically diagnosed at 1-2 years of age when they start to develop signs of the disease. Body alterations progressively aggravate and inevitably cause death at a mean age of 14.5 years, mostly from complications of atherosclerosis (myocardial infarction, heart failure or stroke). For reasons that remain unknown and unpredictable, HGPS progression shows high inter-individual variability (eg, lifespan in HGPS patients ranges from 6 to 20 years), and assessment of clinical manifestations is the only available tool to monitor disease progression and patient responses to treatment. Clinically meaningful shorter-term biomarkers are therefore urgently needed to permit monitoring of HGPS progression from early disease stages and the assessment of therapeutic efficacy. To fill this gap, ProgerOmics will implement a holistic biomarker discovery strategy based on multi-omics studies (radiomics, transcriptomics, epigenomics, proteomics, and metabolomics) in plasma, peripheral blood mononuclear cells (PBMCs) and aortas collected from progeroid mice with early and intermediate disease signs. Integration of phenotypic and multi-omics data by computational and mathematical analysis and modeling will permit the identification of robust biomarkers of HGPS progression in mice. To expedite translation from basic to clinical research, candidate biomarkers identified in progeroid mice will be assessed in plasma and PBMCs from HGPS patients. The ProgerOmics research partners have ample and complementary expertise in all methods needed to carry out the proposed investigations. Three HGPS patient associations will also participate in the Project to promote patient engagement and dissemination of results to the lay public and to expedite clinical translation. Our “FAIR” Data Management Plan will ensure Open Access to data generated in ProgerOmics. The Project is expected to lay the ground for improved monitoring of HGPS progression using circulating biomarkers, which will improve personalized medicine for patients.
  • Andrés, Vicente (Coordinator)
    Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC)


  • De Windt, Leon
    Faculty of Science and Engineering, Faculty of Health Medicine and Life Sciences


  • Elia, Leonardo
    IRCCS Istituto Clinico Humanitas – Humanitas Mirasole SPA


  • Barderas, María EG
    Hospital Nacional de Parapléjicos Foundation


  • CiborowskiMichal
    Medical University of Bialystok