Projects per year
Personal profile
Research interests
Our group conducts translational research aimed at identifiying genetic risk factors underlying cardiac disorders. Our research focuses on:
- Inherited disorders associated with increased risk of sudden cardiac death in young individuals. This includes the primary electrical disorders (e.g. the Long QT Syndrome, cardiac conduction disease and Brugada Syndrome) and the cardiomyopathies (e.g. hypertrophic cardiomyopathy).
- Risk of sudden cardiac death in the setting of acquired cardiac disease, namely ventricular fibrillation in the setting of acute myocardial ischemia or infarction.
- Congenital heart disease.
Besides efforts related to gene discovery, we also conduct functional studies in experimental model systems (e.g., transgenic mice, cardiomyocytes derived from induced pluripotent stem cells) on newly-identified genes or mutations. This allows us to gain insight into the involvement of the given gene or mutation into the pathophysiological mechanism underlying the diseases.
In our research we use amongst others the following tools:
Exome sequencing
Genomewide association studies
Expression QTL studies
Transgenesis
Electrophysiological studies (e.g. patch-clamp, optical mapping)
specialisation
Collaborations and top research areas from the last five years
Projects
- 1 Active
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Bezzina C.R.: Genetics of cardiac arrhythmias
Bezzina, C., Lodder, E., Mengarelli, I., Bakker, D., Beekman, L., Klerk, M., Cocera Ortega, L., Hoekstra, M., Lahrouchi, N., Lieve, K., Skoric - Milosavljevic, D., Podliesna, S., Rivaud, M., Tjong, F. & Veerman, C.
1/01/2007 → …
Project: Research
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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Bezzina, C. R., Barc, J., Mizusawa, Y., Remme, C. A., Gourraud, J-B., Simonet, F., Verkerk, A. O., Schwartz, P. J., Crotti, L., Dagradi, F., Guicheney, P., Fressart, V., Leenhardt, A., Antzelevitch, C., Bartkowiak, S., Borggrefe, M., Schimpf, R., Schulze-Bahr, E., Zumhagen, S., Behr, E. R., & 45 others , 2013, In: Nature Genetics. 45, 9, p. 1044-1049Research output: Contribution to journal › Article › Academic › peer-review
408 Citations (Scopus) -
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Lodder, E. M., de Nittis, P., Koopman, C. D., Wiszniewski, W., Moura de Souza, C. F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E. A., Boualla, L., Blom, N. A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Akdemir, Z. H. C., Fish, R. J., & 13 others , 2016, In: American journal of human genetics. 99, 3, p. 704-710Research output: Contribution to journal › Article › Academic › peer-review
42 Citations (Scopus) -
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence
Marsman, R. F., Barc, J., Beekman, L., Alders, M., Dooijes, D., van den Wijngaard, A., Ratbi, I., Sefiani, A., Bhuiyan, Z. A., Wilde, A. A. M. & Bezzina, C. R., 2014, In: Journal of the American College of Cardiology. 63, 3, p. 259-266Research output: Contribution to journal › Article › Academic › peer-review
136 Citations (Scopus) -
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy
Milano, A., Vermeer, A. M. C., Lodder, E. M., Barc, J., Verkerk, A. O., Postma, A. V., van der Bilt, I. A. C., Baars, M. J. H., van Haelst, P. L., Caliskan, K., Hoedemaekers, Y. M., Le Scouarnec, S., Redon, R., Pinto, Y. M., Christiaans, I., Wilde, A. A. & Bezzina, C. R., 2014, In: Journal of the American College of Cardiology. 64, 8, p. 745-756Research output: Contribution to journal › Article › Academic › peer-review
146 Citations (Scopus) -
Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction
Lodder, E. M., Scicluna, B. P., Milano, A., Sun, A. Y., Tang, H., Remme, C. A., Moerland, P. D., Tanck, M. W. T., Pitt, G. S., Marchuk, D. A. & Bezzina, C. R., 2012, In: PLOS Genetics. 8, 12, p. e1003113Research output: Contribution to journal › Article › Academic › peer-review
41 Citations (Scopus)