Paloma Jordà, University of Montreal
  • Le 12 December 2023
    Bias 2 - Amphi A
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  • 13h00

Polygenic substrate and predictive scores in Mendelian heart diseases

Polygenic substrate and predictive scores in Mendelian heart diseases  

Paloma Jordà, PhD,  Canadian Institutes of Health Research postdoctoral fellow
Montreal Heart Institute/University of Montreal 


The genetic basis and heritability of cardiovascular diseases (CVDs) are well demonstrated, with a genetic makeup ranging from common low-risk genetic variants (SNPs) to rare high-risk genetic variants that may cumulatively contribute to the phenotypical expression of a particular condition. Heritable cardiac disorders, specifically channelopathies and cardiomyopathies, leading known causes of sudden cardiac death among young individuals, have been classically considered to have a Mendelian inheritance. Recent data have demonstrated a significant contribution of common genetic variants also in the so-called Mendelian diseases. In this more comprehensive paradigm the presence of a “pathogenic variant” is not always necessary or sufficient for phenotypic manifestation, but the disease may manifest under near monogenic, oligogenic or polygenic models. Identification of the common genetic variation underlying the etiology of these diseases contributes to the understanding of their mechanisms and to the discovery of potential therapeutic targets. In addition, aggregation of multiple SNPs in so-called polygenic scores have demonstrated to be useful in predicting disease expression and prognosis of these diseases.  



Paloma Jordà is a cardiologist clinician-scientist. Her career focuses on the care of patients with heritable heart diseases and the study of these entities and cardiovascular genetics. She sub-specialized in the field of heritable cardiopathies and syndromes associated with sudden cardiac death with a 3-year training at the Hospital Clínic of Barcelona (Josep Brugada and Elena Arbelo's group) while she was a visitant scientist at the Spanish National Centre for Cardiovascular Research (CNIC) and since 2020 she is a junior researcher at the Montreal Heart Institute/University of Montreal in the field of complex inheritance of cardiac traits and diseases led by Rafik Tadros. 

Mis à jour le 06 December 2023.