Clinical Genetics (research)

The department of Clinical Genetics is dedicated to fast, reliable, high quality laboratory diagnostics and genetic counseling. Therefore evaluation and implementation of innovative genetic laboratory diagnostic strategies and of new approaches in genetic counseling are regarded as main issues of research. In addition, unraveling hitherto unknown genetic causes of hereditary diseases leading to a better understanding of disease and new diagnostic tests, is an ongoing research topic.

Research lines

  • Basic and clinical research on reproductive genetics: prenatal diagnosis and recurrent miscarriages. This is a long and fruitful line of research in collaboration with the department of Obstetrics and Gynecology which has led to 9 PhD’s.
  • Basic and clinical research of the Beckwith Wiedemann syndrome and associated childhood tumors (genomic imprinting). This is an ongoing, successful line of research that has led to 6 PhDs.
  • Genetic heart diseases in particular cardiac arrhythmias and conduction defects. In collaboration with the Department of Cardiology (AMC) (2 thesis from PI group).
  • The department has a long tradition studying psychological and ethical issues in clinical genetics (dr. E. Smets, dr. C.Aalfs). In 2009/ 2010, 6 thesis have been successfully completed. In 2009, 51 publications were published, amongst which publications in Nature Genetics, Am. J. Hum. Genet, New Eng. J. of Medicine, Lancet, Circulation.