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Professor Christine Seidman (Thomas W. Smith Professor in Medicine and Genetics at Harvard Medical School and Director of the Cardiovascular Genetics Center at Brigham and Women’s Hospital, Boston, MA, USA) is an internationally respected scientist and physician in cardiology.
In addition to being awarded the 2019 ESC Gold Medal, which honours individuals who have gained outstanding achievements in original research and scientific excellence, Prof. Seidman has also been awarded the 2019 Vanderbilt Prize in Biomedical Science. Other honours she has been bestowed include the Joseph A. Vita Award and Basic Research Prize from the American Heart Association and the Bristol-Myers Squibb Award for Distinguished Achievement in Cardiovascular Research.
Prof. Seidman is best known for her elucidation of the genetic causes of hypertrophic cardiomyopathy. Talking about what inspired her to specialise in cardiology, and more specifically cardiovascular genetics, Prof. Seidman describes her delight in studying an organ that literally ‘sings/murmurs’ to you, “I have always been fascinated in the physical examination of hearts as well as the diverse spectrum of heart diseases, from acute onset problems such as arrhythmias to chronic conditions such as angina.” She continues, “At the time I was training, I was particularly interested in heart muscle function and the changes this undergoes in response to disease, such as hypertrophy or dilation. Improvements in imaging techniques including echocardiography allowed us to define changes in heart morphology in the absence of symptoms, paving the way to recognising that some of these conditions were being driven by a genetic mechanism. Around the same time, I became aware of advancements in molecular biology and genetics in other fields of medicine and saw a potential application for these new techniques in cardiology.”
Prof. Seidman’s ensuing research using linkage analysis to compare the presence of polymorphisms in the genome of affected families vs unaffected families has been fundamental in identifying the genetic causes of hereditary cardiomyopathies and congenital heart diseases. However, Prof. Seidman is keen to emphasise that these successes are not hers alone but the result of the hard work and dedication of her whole research group, which she runs in collaboration with her husband, Professor Jonathan Seidman. Working together, the research team have developed mechanistic models of hypertrophic cardiomyopathy in mice, and more recently in cardiomyocytes derived from induced pluripotent stem cells, which have provided insights into the mechanisms by which these gene mutations develop into heart disease. “Only once the causes and mechanisms of disease are understood, can we hope to define and develop more effective therapies,” she explains.
How does Prof. Seidman see the future for cardiology? For genetically driven heart diseases, the identification of small molecules that show promise as targeted therapies is an area that she feels holds enormous potential. One such therapeutic agent is already being investigated in clinical trials for the treatment of hypertrophic cardiomyopathy.
“In addition, the potential to correct gene mutations at the molecular level is rapidly emerging and includes correction of the precise nucleotide abnormality or the use of RNA interference technology to prevent translation of the mutated gene.”
Prof. Seidman is hopeful, “Both of these strategies may enable future prevention or cure of potentially devastating diseases, which can manifest as sudden death in people of all ages including the very young. Furthermore, the implications of prevention and cure extend beyond the patients themselves, given the burden to immediate family members who may have inherited the gene mutation.”
In Prof. Seidman’s opinion, “Research collaboration—within and between countries, and between scientists and physician-researchers—is vital to achieving therapeutic advances in cardiology.”
In addition, she feels it is important to reach across all areas of science and technology to find the tools that can be applied in cardiology, allowing progress to span from the bedside back to the bench. This is something Prof. Seidman will touch on at an Advances in Science session today. In her presentation, Prof. Seidman will discuss her research experience in cardiomyopathy, from identifying gene mutations to understanding disease mechanisms to the development of potential medicines, and present how this could provide a research template for other heart muscle diseases.
The potential of genetic testing in dilated cardiomyopathy Today, 11:00 – 12:30; Tbilisi – Village 6
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The European Society of Cardiology brings together healthcare professionals from more than 150 countries, working to advance cardiovascular medicine and help people lead longer, healthier lives.
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