Folkert W. AsselbergsPrincipal Investigator CVON-DOSIS

Brief summary of research over the last five years

The cardiovascular genetics research group is embedded in the theme “Circulatory Health” of the UMCU. Its main focus is to decipher complex diseases including pediatric and adult cardiomyopathies using advanced –omics approaches including metabolomics, genetics and epi-genetics (ChIPseq, RNAseq, Methyl-seq, 4C, STARRseq). Lately, his group shifted from gene discovery efforts to effect modification investigating the role of genetic and non-genetic factors in the variable phenotype expression that characterizes cardiomyopathy patients. In the past decades, the departments of Cardiology and Pathology from UMCU created a large biobank with clinical information and heart tissue of over 500 patients with end-stage heart failure that will be used within DOSIS to detect epigenetic modifiers that influences disease expression. This biobank is part of the Netherlands Cardiomyopathy Registry: UNRAVEL that was established in collaboration with other DOSIS investigators and will be expanded with additional genetic and environmental information to have adequate sample size for in-depth genotype-phenotype studies that will explain the observed heterogeneity among cardiomyopathy patients.

 

UNRAVEL – Netherlands Cardiomyopathy Registry: UNRAVEL (www.durrercenter.nl/catalogue) was established as a retrospective multi-center register for DCM where >600 patients have been enrolled. The aim of this national register was to harmonize national DCM databases and provide an online tissue biobank in the Netherlands. This registry includes clinical phenotypes, imaging, genetics and catalogues biomaterials such as tissue, blood and DNA stored by the individual academic centres. Follow-up includes genetic testing, survival, heart transplantation and implantations of cardiac devices. Prospectively, ischemic heart disease and all forms of cardiomyopathies and their family members are included in the UNRAVEL biobank where patient information is linked to the hospitals patient information system. Additional questionnaires regarding life-style factors will be send out to all UNRAVEL participants as part of WP4 in DOSIS.

 


 

Current Positions

Since 2015 Professor of Cardiovascular Genetics, University Medical Center Utrecht, The Netherlands

Since 2014 Adjunct Professor of Epidemiology, Dartmouth Medical School, Lebanon, NH, USA

Since 2013 Program lead Genomic Medicine, Institute of Cardiovascular Science, University College London, United Kingdom

Since 2012 Chief Scientific Officer Durrer Center for Cardiovascular Research, Netherlands Heart Institute

Since 2010 Consultant Cardiologist, Section Heart Failure and Heart Transplantation, Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Utrecht, The Netherlands

 


 

Top 5 recent publications

1. Surendran P, Drenos F, Young R, (…), Asselbergs FW**,(…), Howson JM, Munroe PB. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Nat Genet. 2016 Sep 12. doi: 10.1038/ng.3654. [Epub ahead of print] PubMed PMID: 27618447.

2. van der Laan SW, Fall T, Soumaré A, (…), Ärnlöv J, Holmes MV, Asselbergs FW. Cystatin C and Cardiovascular Disease: A Mendelian Randomization Study. J Am Coll Cardiol. 2016 Aug 30;68(9):934-45.

3. EORP Cardiomyopathy Registry Pilot Investigators. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology. Eur Heart J. 2016 Jan 7;37(2):164-73

4. Karakikes I, Stillitano F, Nonnenmacher M, (…) , Asselbergs FW, (…) , Hulot JS, Kranias EG, Hajjar RJ. Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. Nat Commun. 2015 Apr 29;6:6955

5. Harakalova M, Kummeling G, Sammani A, (…) , Dooijes D, Mokry M, Asselbergs FW. A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes. Eur J Heart Fail. 2015 May;17(5):484-93

** Shared last author


 

Selection of ongoing projects

 

2016 Scientific Coordinator BigData@Heart H2020-JTI-IMI2-2015-07.

2016  CVON consortium eDETECT (Co-applicant): Early detection of disease in cardiomyopathy mutation carriers

2015  CVON consortium DOSIS (PI): Determinants Of Susceptibility in Inherited cardiomyopathy: towards novel therapeutic approaches

2015  PI FP7 Grant 601456-2 CVgenes@target

2014  PI NIH RO1 grant – 2R01LM010098 Bioinformatics Strategies for Genome-Wide Association Studies

2014 Dekker scholarship-Junior Staff Member 2014T001 – Netherlands Heart Foundation Differential risk impact of genetic variants on first versus subsequent coronary heart disease events.

2013 Co-founder and Executive committee International Genetics & Translational Research in Transplantation Network (iGeneTRAiN) consortium (www.igenetrain.org), The Genetics of Subsequent Coronary Heart Disease (www.genius-chd.org), and Heart Failure Molecular Epidemiology for Therapeutic Targets (www.hermesconsortium.org)