Professor Christopher Semsarian
MBBS, PhD, MPH, 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
|Telephone||+61 2 9565 6195|
|Fax||+61 2 9565 6101|
Professor Christopher (Chris) Semsarian is an internationally renowned cardiologist and scientist studying genetic heart disease and sudden death and the management of individuals and families with or at risk of inherited cardiac disorders. He is the Director of the Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic at Royal Prince Alfred Hospital, Sydney and Director of the Australian Genetic Heart Disease Registry. Professor Semsarian’s research focuses on identifying new genes in cardiovascular disease, elucidating the molecular basis of how these genes lead to clinical manifestations, and evaluating the role of modifying factors in clinical disease development and progression. He established and heads the Molecular Cardiology Program at the Centenary Institute, University of Sydney. In 2003, he established Australia’s first tertiary referral multi-disciplinary Genetic Heart Disease and Hypertrophic Cardiomyopathy Clinic which receives referrals from around Sydney and regional NSW. The clinic and the Molecular Cardiology Program serve as a national centre of research and clinical excellence in genetic heart disease and sudden death, by combining management and prevention of sudden death in at-risk families, with cutting-edge research in the field, and where basic molecular research results have translated to advances in clinical care. He has co-authored many of the best practice Australian and international guidelines on genetic heart diseases, sudden death and genetic testing. In 2008 Professor Semsarian’s team established the Australian Genetic Heart Disease Registry www.heartregistry.org.au, which is a major database and patient support initiative involving collaboration between all States and territories that aims to enroll every Australian family with genetic heart disease. With >1000 families currently enrolled, the registry covers all known genetic heart conditions, and is the only such registry worldwide.
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”.
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
(Harvard Medical School, Boston)
Collaborate on genetic studies in heart disease
- A decision aid for implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy; Ingles J, Semsarian C, McCaffery K, Redfern J; National Heart Foundation of Australia/Vanguard Grant.
- Robots to expand drug discovery, neurology and cardiovascular research; Britton W, Semsarian C, Brilot-Turville F; DVC Research/Equipment Grant.
- Clinical application of whole genome studies in patients with inherited cardiomyopathies; Semsarian C, Fatkin D, Dinger M, Bagnall R, Ingles J, Cowley M, Turner C, Colley A, Berman Y, Ronan A; NSW Ministry of Health, Office for Health and Medical Research/Genomics Collaborative Grants Program.
- Creating sustainable healthcare: ensuring new diagnostics avoid harms, improve outcomes, and direct resources wisely; Barratt A, McCaffery K, Carter S, Glasziou P, Kerridge I, Semsarian C, Howard K, Doust J, Elshaug A, Moynihan R; National Health and Medical Research Council (NHMRC)/Centres for Research Excellence.
- Genetic Basis of Childhood Cardiomyopathy; Semsarian C, Weintraub R, Bagnall R, Ingles J; National Health and Medical Research Council (NHMRC)/Project Grants.
- Clinical and genetic basis of childhood cardiomyopathies; Ingles J, Semsarian C, Weintraub R, Bagnall R; National Heart Foundation of Australia/Vanguard Grant.
- Increasing physical activity in individuals with hypertrophic cardiomyopathy: A pilot study utilising control theory principles; Semsarian C, Ball K, Sweeting J, Ingles J; National Heart Foundation of Australia/Vanguard Grant.
- The Early Repolarization ECG: Prevalence, Heritability and Significance in Patients with Inherited Channelopathies; Medi C, Semsarian C, Sy R, McGuire M; National Heart Foundation of Australia/Vanguard Grant.
- Cardiovascular Effects of Energy Drinks; Gray B, Semsarian C, Driscoll T; National Heart Foundation of Australia/Vanguard Grant.
- 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; The Financial Markets Foundation for Children/Research Support.
- 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.
- New Gene Discovery in Familial Hypertrophic Cardiomyopathy; Semsarian C, Bagnall R; National Health and Medical Research Council (NHMRC)/Project Grants.
- QIAxcel high throughput automated DNA, RNA and protein capillary electrophoresis system; Weninger W, Fazekas de St Groth 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.
- Genetic testing in children at risk of genetic heart disease: optimizing clinical care; Ingles J, Semsarian C; Thrasher Research Fund/Research Support.
- 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.
- 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.
- 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.
- 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; National 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.