In general, clinical molecular DNA-diagnostics leads to a broad field of research interest since many different human disorders are studied at the molecular level. Often, interesting scientific observations are made leading to new disease loci/genes or improved diagnostics/patient care.
Basic and Clinically applied research of the laboratory has been focused on the genetic aetiology of the Beckwith-Wiedemann syndrome and associated childhood tumours; genomic imprinting; cardiac arrhythmia's and conduction defects and congenital heart defects. Innovation of DNA-diagnostics is an ongoing field of research, in particular the use of micro-arrays for genome diagnostics, for epigenetics and the introduction of massive parallel sequencing technology.
The nature of genomic imprinting and its consequences for human health will be further investigated, including biochemical analysis of the interaction of the various genes involved. Other human growth malformation syndromes are being included in the analysis, such as Silver Russell syndrome, Perlman syndrome, Sotos syndrome and Klippel Trenaunay Weber syndrome. From 2012 on, we are studying epigenetic regulation of genes in various clinical conditions, including trauma, child abuse and neglect and foetal alcohol syndrome. Cardiogenetics is a successful field of research in the AMC. We will continue to search for new genes and to identify the role of various genes in the development of cardiac disorders. In addition we will analyze patient cohorts in order to improve the DNA-diagnostics for this important group of patients.

Themes: Cardiovascular Diseases and Metabolic Disorders

This research group participates in the Amsterdam Center for Metabolism and the Heart Failure Center AMC
Effective start/end date1/02/07 → …

ID: 179007