HUM-MOLGEN DIAGnostics/Clinical Research


A-T study; req. for collaboration from Germany

Hi, My name is Markus Stumm, I am a biologist and I am the leader of the cytogenetic lab in the institute of human genetics Magdeburg. Our institute is part of the university hospital Magdeburg. In our lab we are performing prenatal and postnatal routine diagnosis. We are offering special diagnostic for AT, AT-V, ICFS and for patients who react hypersensitiv to irradiation (e. g. X-ray, gamma-ray). My main topics in science are chromosomal instability syndromes and radiosensitivity. I have performed cell fusion studies in ICFS (Schuffenhauer et al., Human Genet. 1995) and AT-V (NBS)(submitted). Also, I have performed linkage analysis of AT-V patients (Stumm et al., AJHG 1995). For further cell fusion studies (testing for heterogeneity) and linkage analysis (are soon in progress for AT-V) it it is necessary to collect more patients suffering from these rare diseases. Only an optimal number of exactly diagnosed patients, can lead to the isolation of genes responsible for these diseases. I have good connections to other labs working in this field (e.g. the german AT-consortium). Therefore, I you have any patients with clinical hallmarks of AT, AT-V or ICF please contact me for cytogenetic diagnosis. Furthermore, if you have radiosensitive tumor-patients please contact me to create a project.