Grant for Jan Jongbloed from Netherlands Heart Foundation

Jan Jongbloed and co-applicant Peter van Tintelen have been awarded a grant by the Netherlands Heart Foundation to implement their proposal "Exome sequencing: an unprecedented opportunity to maximize mutation yields and identify novel disease genes in inherited cardiomyopathies". In this project 50 cardiomyopathy families will be analysed by applying exome sequencing to identify the underlying disease gene. If this leads to the identification of new disease gene(s), then DNA samples from a cohort of ~250 additional cardiomyopathy patients will be screened for mutations in these candidate genes. In addition, immunohistochemical analysis on myocardial biopsies will be performed to confirm the functional consequences of the mutations identified. The project is a cooperation between the UMCG Departments of Genetics (Jongbloed, van Tintelen, Sinke, Hofstra), Cardiology (van den Berg, de Boer) and Pathology (Suurmeijer).