Centre for Medical Genetics

Topic A : Identification of new mutations in hereditary diseases (W. Lissens, I. Liebaers), more in particular: - cystic fibrosis - iduronate sulphate deficiency - Beta-glucuronidase deficiency - anti thrombosis III deficiency Topic B : Preimplantation genetics/expression (Liebaers I, Lissens W.) - expression Beta-hexosaminidase in mouse and human embryo's - preimplantation diagnosis in couples at risk for cysticfibrosis (F508) or couples at risk for sexlinked disease (sexing) - preimplantation diagnosis of mucoviscidosis - gene-expression in preimplantation diagnosis Topic C : Molecular genetic studies in pyruvate dehydrogenase-E1a deficiency and defects of mitochondrial DNA (L. De Meirleir, W. Lissens, I. Liebaers) - DNA studies in patients with lactic acidosis - detection of mutations in the pyruvate dehydrogenase-E1a gene unit in mitochondrial DNA in patients with lactic acidosis. - molecular-genetic study on pyruvate dehydrogenase-E1a deficiency and of defects of the mitochondrial DNA Topic D : Fluorescent in sito hybridisation studies in patients with chromosomal abberations(E. Van Assche, W. Lissens, I. Liebaers) Topic E : Molecular genetics of solid tumors (J. De Greve, W. Lissens) more in particular - ovarium carcinoma - pancreas carcinoma - detection of genetic changes in human ovarium carcinoma by means of molecular probing and karyotyping - Molecular elements in pathogenesis and progression of human ovarian cancer: analysis of specific genes with tumor suppressor activity and identification of new relevant genes