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Professor Semsarian studies the molecular, genetic, clinical and translational aspects of cardiovascular disorders that have a genetic basis, with a particular interest in investigation and prevention of cardiomyopathies and sudden cardiac death in the young. He is an international expert in sudden death and its genetic evaluation. By bridging the interface between basic research and clinical practice, he has helped prevent the complications of genetic heart disease in the community. His research has identified new genes involved in hypertrophic cardiomyopathy, and the mechanism of associated cardiac muscle impairment. The discovery that some families with severe hypertrophic cardiomyopathy carried mutations in two genes associated with the disease led a paradigm shift in the understanding of genetic diseases and has resulted in improved diagnosis, therapies to prevent complications, and risk-management strategies to prevent heart failure and sudden death in at-risk individuals. Professor Semsarian contributed to an international study demonstrating a significantly reduced risk of sudden death associated with ICD implantation in children and adolescents with hypertrophic cardiomyopathy. His team has demonstrated the usefulness of exome sequencing in the post-mortem setting to investigate the cause of sudden death in the young.
Current research includes: (a) application of genetic technologies for the discovery of novel genes associated with inherited cardiovascular diseases (using the extensive database of families in the Australian Genetic Heart Disease Registry); (b) elucidating how gene defects activate signaling pathways to cause disease; (c) exome sequencing to perform molecular autopsies for the identification of novel genes implicated in sudden death in the young and to evaluate at-risk families; (d) developing improved multidisciplinary care models of clinical and psychosocial behavioural interventions for individuals and families at risk of genetic heart disease.
Future research will assume a public health focus. “The past ten years have seen major advances in gene technology with the ability to screen >20,000 genes in as little as six weeks”, says Professor Semsarian. “Our knowledge of genes implicated in cardiovascular disease in individuals and families means the natural next step is to look for these and other genetic markers from a broader population perspective”.
Professor Semsarian studies the molecular, genetic, clinical and translational aspects of cardiovascular disorders that have a genetic basis, with a particular interest in investigation and prevention of cardiomyopathies and sudden cardiac death in the young. He is an international expert in sudden death and its genetic evaluation. By bridging the interface between basic research and clinical practice, he has helped prevent the complications of genetic heart disease in the community. His research has identified new genes involved in hypertrophic cardiomyopathy, and the mechanism of associated cardiac muscle impairment. The discovery that some families with severe hypertrophic cardiomyopathy carried mutations in two genes associated with the disease led a paradigm shift in the understanding of genetic diseases and has resulted in improved diagnosis, therapies to prevent complications, and risk-management strategies to prevent heart failure and sudden death in at-risk individuals. Professor Semsarian contributed to an international study demonstrating a significantly reduced risk of sudden death associated with ICD implantation in children and adolescents with hypertrophic cardiomyopathy. His team has demonstrated the usefulness of exome sequencing in the post-mortem setting to investigate the cause of sudden death in the young.
Current research includes: (a) application of genetic technologies for the discovery of novel genes associated with inherited cardiovascular diseases (using the extensive database of families in the Australian Genetic Heart Disease Registry); (b) elucidating how gene defects activate signaling pathways to cause disease; (c) exome sequencing to perform molecular autopsies for the identification of novel genes implicated in sudden death in the young and to evaluate at-risk families; (d) developing improved multidisciplinary care models of clinical and psychosocial behavioural interventions for individuals and families at risk of genetic heart disease.
Future research will assume a public health focus. “The past ten years have seen major advances in gene technology with the ability to screen >20,000 genes in as little as six weeks”, says Professor Semsarian. “Our knowledge of genes implicated in cardiovascular disease in individuals and families means the natural next step is to look for these and other genetic markers from a broader population perspective”.
研究兴趣
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Nature Reviews Cardiologyno. 4 (2024): 215-216
JOURNAL OF MEDICAL GENETICSno. 2 (2024): 171-175
Felicity Leslie,Suzanne R Avis,Richard D Bagnall,Jason Bendall,Tom Briffa, Isabel Brouwer,Alexandra Butters,Gemma A Figtree,Andre La Gerche,Belinda Gray,Lee Nedkoff,Gregory Page,
Heart, lung & circulationno. 9 (2023): 1069-1075
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Laura Yeates,Amy Baker,Karen Gardner, Natalie Stewart, Laura Catto,Judy Do, Felicity Leslie,Christopher Semsarian,Belinda Gray,Alison McEwen,Leesa Adlard,Jodie Ingles
medRxiv (Cold Spring Harbor Laboratory) (2023)
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JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGYno. 5 (2023): 1329-1331
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Auke T Bergeman,Krystien V V Lieve,Dania Kallas,J Martijn Bos, Ferran Rosés I Noguer,Isabelle Denjoy,Esther Zorio,Janneke A E Kammeraad,Puck J Peltenburg, Katie Tobert,Takeshi Aiba,Joseph Atallah,
Circulationno. 25 (2023): 2029-2037
Serena Li,Stuart Fraser, Ginell Ranpura,Seakcheng Lim,Emma S Singer,Jeremy D K Parker, Joshua Crowe,Richard D Bagnall,Zachary Laksman,Christopher Semsarian
Stem cell research (2023): 103153-103153
Sophie Hespe, Julia C. Isbister,Johan Duflou,Raj Puranik,Richard D. Bagnall,Christopher Semsarian,Belinda Gray,Jodie Ingles
EUROPEAN HEART JOURNAL-CASE REPORTSno. 12 (2023): ytad572-ytad572
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGYno. 1 (2023)
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