Affiliation:
1. Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Via Pier Lombardo, 22, Milan 20135, Italy
Abstract
Abstract
To those of us involved in clinical research it seldom happens to begin working on a rather obscure disease, still largely unexplored, and to follow its ripening into a medical entity of large interest to clinicians and basic scientists alike, and moreover to do so for exactly 50 years. This is what has been my privilege in the relentless pursuit of the intriguing disease known as the long QT syndrome (LQTS). This essay begins with the encounter with my first patient affected by LQTS when just a handful of cardiologists had seen similar cases and continues with the series of efforts, some sound some amateurish, which eventually led—together with many brilliant partners and associates—to describe and understand the natural history of the disease and the most effective therapies. It then touches on how our International Registry for LQTS, with its well-documented family trees, constituted the necessary springboard for the major genetic discoveries of the 1990s. From the explosion of genetic data, my own interest focused first on the intriguing genotype–phenotype correlation and then on ‘modifier genes’, in the attempt of understanding why family members with the same disease-causing mutation could have an opposite clinical history. And from there on to iPS-derived cardiomyocytes, used to unravelling the specific mechanisms of action of modifier genes and to exploring novel therapeutic strategies. This long, and highly rewarding, journey continues because the fascination and the attraction of the unknown are irresistible.
Funder
Leducq Foundation for Cardiovascular Research
Towards Precision Medicine with Human iPSCs for Cardiac Channelopathies
Publisher
Oxford University Press (OUP)
Subject
Cardiology and Cardiovascular Medicine
Reference60 articles.
1. Inherited cardiac arrhythmias;Schwartz;Nat Rev Dis Prim,,.
2. QT interval prolongation as predictor of sudden death in patients with myocardial infarction;Schwartz;Circulation,1978
3. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death;Jervell;Am Heart J,1957
4. Aritmie rare dell’età pediatrica. I. Tachicardia parossistica ripetitiva;Romano;Minerva Pediatr,1963
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