Specialization
Cardiogenetics
Pulmonary Arterial Hypertension
Hereditary Aortic Disease
Birt-Hogg-Dubé Syndrome
Focus of research
My research focuses on the genetics of inherited cardiovascular disorders, with a particular focus on translating genetic findings into improved diagnosis, risk assessment and clinical care.
My main research is centered on cardiogenetics, with a particular focus on inherited cardiovascular and pulmonary disorders, including hereditary aortic disease, pulmonary arterial hypertension and Birt-Hogg-Dubé syndrome.
Across these fields, I study genotype phenotype relationships in well characterized patient cohorts, aiming to better define the clinical spectrum and penetrance of genetic disorders. An important aim of my research is the identification of novel disease associated genes in gene elusive families. Identifying a novel genetic cause in these families provides a starting point for further elucidating disease mechanisms and ultimately developing new therapeutic approaches.
My research integrates clinical and molecular approaches and is often conducted in collaboration with leading research groups nationally and internationally.
Recently, I was one of the initiators of the PROGRESS-HCD consortium, which was awarded €1.5 million by the Dutch Heart Foundation to establish the use case for expanding genetic testing as a strategy for the prevention of hereditary cardiovascular disease.
Genotype-Phenotype Correlations
Cohort studies
Gene Discovery