Professor Christopher Semsarian
MBBS PhD FRACP FCSANZ FHRS FAHA
NHMRC Practitioner Fellow
Professor of Medicine, Sydney Medical School
Cardiologist, Royal Prince Alfred Hospital, Central Clinical School
Head, Molecular Cardiology Program, Centenary Institute
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Professor Christopher (Chris) Semsarian is an internationally renowned physician-scientist – he is a cardiologist and basic scientist specialising in research on genetic heart disease and sudden death and the management (prevention and treatment) of individuals and families with or at risk of inherited cardiac disorders. He is Professor of Medicine and NHMRC Practitioner Fellow at the University of Sydney, Visiting Cardiologist at the Royal Prince Alfred Hospital, Director of the Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic at the hospital, Head of the Molecular Cardiology Program at the Centenary Institute, and Director of the Australian Genetic Heart Disease Registry. Prof Semsarian’s research focuses on identifying new genes in cardiovascular disease, elucidating the molecular basis of how these genes lead to the clinical manifestations, and evaluating the role of modifying factors in clinical disease development and progression. A graduate of the University of Sydney (MBBS) Prof Semsarian undertook specialist training in cardiology and later completed a PhD through the Victor Chang Cardiac Research Institute, studying the molecular and clinical aspects of cardiac hypertrophy, which resulted in a first author publication in Nature. Subsequently, he worked as a postdoctoral Research Associate at the Department of Genetics, Harvard Medical School, USA. On return to Australia in 2002, he established the Molecular Cardiology Program at the Centenary Institute, University of Sydney. In 2003, Prof Semsarian established Australia’s first tertiary referral multi-disciplinary Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic at the Royal Prince Alfred Hospital which receives referrals from around Sydney and regional NSW. The clinic also facilitates as a training centre for FRACP trainees and genetic counseling students. Prof Semsarian has since lent his expertise to the Health Departments of Queensland and Victoria to help establish similar clinics in these States. The clinic along with the Molecular Cardiology Program serves as a national centre of research and clinical excellence in genetic heart disease and sudden death, by combining patient management and prevention of sudden death in at-risk families, with cutting-edge research in the field – and where the results of basic molecular research have translated to advances in clinical care. Prof Semsarian has an excellent research track record – he has received continuous NHMRC Project Grant funding since 2003 and has published widely with >140 peer-reviewed scientific papers in leading journals including Nature, Journal of Clinical Investigation, Lancet, Circulation, Circulation Research, Journal of Medical Genetics, and Journal of the American College of Cardiology. He has written or co-authored many of the best practice guidelines in Australia on genetic heart diseases and sudden death and in 2011 he was the only non-USA, non-European member of the International Genetic Testing Guidelines Committee. Prof Semsarian has received numerous prestigious awards recognising his research contributions – in 2009 he was awarded the Royal Prince Alfred Hospital Medal for excellence in medical scientific research, and in 2010 his work was listed in the NHMRC’s Ten of the Best research studies that year. In 2012, Prof Semsarian received the Cardiac Society of Australia and New Zealand (CSANZ) RT Hall Research Prize, the highest research award given by the CSANZ each year. He has been a NHMRC Practitioner Fellow since 2004. Prof Semsarian collaborates widely – with researchers in every state and territory in Australia and New Zealand and internationally in the USA and Italy. He and his team have been involved in a major database and patient support initiative through the establishment in 2008 of the Australian Genetic Heart Disease Registry – www.heartregistry.org.au, which aims to enroll every Australian family with genetic heart disease and currently includes >1000 families. “This was a labour of love” says Prof Semsarian. “We started the registry and have continued it with little external funding – our sole purpose being to help families. The registry covers all known genetic heart conditions and is the only such registry worldwide. Establishing a National registry requires collaboration between all States and Territories, an enormous undertaking that is unattainable in many countries. We are the envy of the world – and very proud of this achievement”.
Prof Semsarian also has a substantial involvement in research promotion, teaching, outreach and advocacy. He is a member of the editorial board of the journals Heart Rhythm and Circulation CV Genetics, and he is an Associate Editor of the International Journal of Cardiology. In 2003, he helped to establish the CSANZ’s Cardiovascular, Genetic Working Group, which he Chaired until 2007. He is a member of the Research Committees of the CSANZ and the National Heart Foundation of Australia and is Director of the Board of the Hearts4Heart Charity. Prof Semsarian teaches medical students and FRACP trainees and presents lectures to nursing stuff, psychiatry trainees, and overseas doctors training in Australia. Since 2005, he has been Postgraduate Coordinator for the Centenary Institute. Additionally, Prof Semsarian spends one week each year as part of the international team for the “500 Hearts” project in rural Cambodia, where he is involved in screening for the risk of rheumatic heart disease in Cambodian children in remote villages. In 2007, he established the Kempsey Indigenous Heart Disease Clinic, a free clinic for the local Indigenous community in Northern NSW – which is run approximately 3-4 times each year to educate the local community and improve heart health, specifically in the young. He maintains a strong involvement in raising awareness of cardiac research in the wider community – having presented talks to community groups on cardiac health issues and on the importance of research. Prof Semsarian is involved with the NSW AFL in raising awareness of sudden cardiac death in athletes and of the importance of public access defibrillators.
Prof Semsarian is a cardiologist and basic biological scientist studying the molecular, genetic, clinical and translational aspects of cardiovascular disorders that have a genetic basis (i.e. genetic heart disease). He has a particular interest in cardiomyopathies and sudden cardiac death in the young including investigation and prevention of sudden cardiac death in children and young adults. He is an internationally-recognised expert in the field of sudden death and its genetic evaluation. Prof Semsarian and his team have contributed significantly to the understanding of inherited cardiovascular disorders and sudden death, about which little was known even a decade ago. He has bridged the interface between basic and clinical research to help 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 work resulted in a paradigm shift in the understanding of genetic diseases with the discovery that some families with severe hypertrophic cardiomyopathy carried mutations in two genes associated with the disease. This has led to improved diagnosis, therapies to prevent complications, and better risk management strategies to prevent heart failure and sudden death in patients with genetic cardiovascular disease. Prof Semsarian also contributed to a recent international multicenter study, which demonstrated a significantly reduced risk of sudden death associated with ICD implantation in children and adolescents with hypertrophic cardiomyopathy. In addition,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 at the Molecular Cardiology Program encompasses several distinct streams including: (a) application of genetic technologies for the discovery of novel genes associated with inherited cardiovascular diseases – using the extensive database in the Australian Genetic Heart Disease Registry, of families that have undergone thorough clinical evaluation; (b) elucidating how gene defects activate signaling pathways to cause disease (d) continued use of 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 – particularly identifying impaired functioning or quality of life after a diagnosis of genetic heart disease or evidence of post-traumatic stress disorder after ICD implantation. The overall aim of this research stream is to identify risk factors for deteriorating mental health associated with a diagnosis of genetic heart disease and to develop evidence-based strategies for multimodal management.
Currently Prof Semsarian is enrolled in a Masters of Public Health Program at the University of Sydney with a view to establishing future research direction in his laboratory. He says “the past ten years have seen major advances in gene technology – we now have the ability to screen >20,000 genes in as little as six weeks. With our knowledge of genes implicated in cardiovascular disease in individuals and families, the natural next step is to look for these and other genetic markers from a broader population perspective. The MPH degree teaches the rigour of methodological design for large population health studies and also improves understanding of the implications of study conduct and outcomes”.
In the media
1. Feature story on sudden cardiac death on Catalyst, ABC Television, November 2004 http://www.abc.net.au/catalyst/stories/s1251441.htm
2. Interview regarding collapsed Olympic athlete onA Current Affair, Channel 9, September 2004.
3. Interviews on ABC Radio / Radio National (several)
4. Featured in National Heart Foundation national TV commercial promoting heart research.
5. Interview on Asia-Pacific ABC Radio regarding genes in heart disease, 2006.
6. Interview on Radio 2SM – about National Cardiomyopathy Day, August 2006.
7. Interview on Radio 2SM – about World Heart Rhythm Day, 13 June 2007
8. Featured story on 730 Report: Cardiologist unlocks genetic mystery of sudden death. ABC Television, February 2008.
9. Radio interviews (2BL, 2GG, 2SM) on National Genetic Heart Disease Registry, August 2009.
10. Story on Gene Patents on Four Corners, ABC Television, September 2010 http://www.abc.net.au/4corners/content/2010/s3000623.htm
11. Story on sudden death in the young on Sunrise, Channel 7, October 2010.
12. Story on sudden death in the young on 7pm Project, Channel 10, February 2011.
13. Interview on ABC Radio on sudden death in the young, March 2011.
14. Feature story on sudden death on 630 with Negus, Channel 10, August 2011.
15. Feature story on sudden death on 60 Minutes, Channel 9, December 2011.
16. Feature story on energy drinks as triggers for heart attacks, NineMSN, January 2012.
17. Interview on Fox Sports TV News & Views, about heart disease in athletes, March 2012.
18. Interview on ABC Newcastle about sudden death in the young, April 2012.
19. Interview on ABC Ballarat about sudden death in athletes, April 2012.
20. Podcast interview on “A Game of Two Halves” about sudden death in athletes, including EPL players, April 2012.
21. Feature story on cardiac effects of energy drinks on SBS World News, SBS, October 2012.
22. Feature story on Catalyst, ABC Television, Dangers of Energy Drinks, August 2013 http://www.abc.net.au/catalyst/stories/3826162.htm
23. Feature story on Caffeine Strips on ABC News, ABC Television, April 2014.
24. Feature story on Genomic Technologies on Nine News, Channel 9, May 2014.
25. Articles in The Guardian Australia and The Glow (2014) on sudden cardiac death in young adults: http://www.theguardian.com/world/2014/aug/12/sudden-cardiac-arrest-up-to-five-australians-under-35-die-each-week
PhD and master's project opportunities
+ indicates the opportunity is full and unavailable.
Honours project opportunities
(Harvard Medical School, Boston)
Collaborate on genetic studies in heart disease
- Practitioner Fellowship Level 2 - Clinical and Genetic Studies in Inherited Heart Diseases and Sudden Death; Semsarian C; National Health and Medical Research Council (NHMRC)/Career Awards: Practitioner Fellowships.
- Clinical and Genetic Basis of Sudden Unexplained Death in Children; Semsarian C, Weintraub R; Financial Markets Foundation for Children/Research Support.
- New Gene Discovery in Familial Hypertrophic Cardiomyopathy; Semsarian C, Bagnall R; National Health and Medical Research Council (NHMRC)/Project Grants.
- Genetic testing in children at risk of genetic heart disease: optimizing clinical care; Ingles J, Semsarian C; Thrasher Research Fund/Research Support.
- QIAxcel high throughput automated DNA, RNA and protein capillary electrophoresis system; Weninger W, Fazekas B, Feng C, Jolly C, Semsarian C, Vadas M, Bertolino P, McCaughan G, Shackel N, Bagnall R, Shklovskaya E, Bailey C; National Health and Medical Research Council (NHMRC)/Equipment Grants.
- Neuro-Cardiac Genetic Basis of Sudden Unexpected Death in Epilepsy; Semsarian C, Crompton D, Bagnall R; National Health and Medical Research Council (NHMRC)/Project Grants.
- Neuro-Cardiac Genetic Basis of Sudden Unexpected Death in Epilepsy (SUDEP); Semsarian C, Scheffer I; Citizens United for Research in Epilepsy (CURE)/Research Support.
- Genetic Basis of Valvular Heart Disease; Semsarian C, Weintraub R, Winlaw D, Bagnall R; National Health and Medical Research Council (NHMRC)/Project Grants.
- automated storage, retrieval, and UV imaging system; Jormakka M, Gamble J, Semsarian C, Rasko J, Vadas M, Xia P, Gorrell M, Clarke R, Holst J, Church W; National Health and Medical Research Council (NHMRC)/Equipment Grants.
- Investigation of sudden cardiac death in the young; Semsarian C, Weintraub R, Weintraub R, Duflou J, Puranik R, Skinner J; National Health and Medical Research Council (NHMRC)/Project Grants.
- Key role of connective tissue growth factor (CTGF) in familial cardiomyopathy and heart failure; Semsarian C, Twigg S, Tsoutsman T; National Health and Medical Research Council (NHMRC)/Project Grants.
- Clinical and Genetic Studies in Inherited Heart Disease and Sudden Death; Semsarian C; National Health and Medical Research Council (NHMRC)/Career Awards: Practitioner Fellowships.
- Multiple Mutations in Familial Cardiomyopathy: Cahracterisation and Treatment Studies; Tsoutsman T, Semsarian C; Heart Foundation of Australia/Grants-in-Aid.
- Genetic predisposition to sudden cardiac death in young people with type 1 diabetes; Semsarian C; National Heart Foundation/Research Grants.
- Novel Insights Into The Genetic Basis Of Hypertrophic Cardiomyopathy: Candidate Genes Related To Calcium (Ca 2+) Handling; Semsarian C; National Heart Foundation/Grants-in-Aid.
- NHMRC - Practitioner Fellowship; Semsarian C; National Health and Medical Research Council (NHMRC)/Career Awards: Practitioner Fellowships.
- Genetic basis of sudden cardiac death in the young; Semsarian C; National Health and Medical Research Council (NHMRC)/Project Grants.
- Molecular studies in hypertrophic cardiomyopathy; National Health and Medical Research Council (NHMRC)/Career Awards: Practitioner Fellowships.
- Modifying factors and phenotype heterogeneity in familial hypertrophic cardiomyopathy; Semsarian C; National Health and Medical Research Council (NHMRC)/Project Grants.