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个人简介
My interest is in using molecular genetic analysis of cardiovascular disease as a tool to define disease mechanisms and therapeutic targets. I have had a longstanding focus on inherited heart muscle diseases, in particular hypertrophic cardiomyopathy, which is a relatively common Mendelian condition which puts affected individuals at risk of sudden cardiac death. My group's work, using molecular biological, model organism and clinical research approaches, has lead to the idea that energy compromise is a key disease mechanism; clinical trials are underway to test new medical therapies based on this finding. Our work on genetic causes of ‘sudden cardiac death’ syndromes has been translated into clinical practice through the Oxford BRC, leading to an NHS commissioned national DNA diagnostic service. This area of my work is integrally linked with the groups of Dr. Charles Redwood and Dr. Houman Ashrafian as we have worked closely together for many years.
研究兴趣
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Journal of Cardiac Failure (2024): S3
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JACC-HEART FAILUREno. 1 (2024): 199-215
Sara Saberi,Theodore P. Abraham,Lubna Choudhury,Anjali Tiku Owens,Albree Tower-Rader, Florian Rader, Pablo Garcia Pavia,Iacopo Olivotto,Caroline Coats,Michael A. Fifer, Scott D. Solomon,Hugh Watkins,
Journal of the American College of Cardiologyno. 13 (2024): 356
Siwei Chen,Laurent C. Francioli,Julia K. Goodrich,Ryan L. Collins,Masahiro Kanai,Qingbo Wang, Jessica Alfoeldi, Nicholas A. Watts, Christopher Vittal,Laura D. Gauthier,Timothy Poterba,Michael W. Wilson,
NATURE (2024)
CIRCULATION-GENOMIC AND PRECISION MEDICINEno. 3 (2023): 207-215
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Journal of Cardiac Failureno. 4 (2023): 554-554
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American journal of human geneticsno. 2 (2023): 284-299
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