Human Genetics (Institute)

Molecular genetic analyses of monogenic and multi-factorial disorders

Whole Exome and Genome Sequencing

Analyses of Constitutional Chromosome Aberrations (Prenatal and Postnatal)

Analyses of tumor-associated chromosomal aberrations including reference diagnostics for clinical trails

Molecular Cytogenetic (e.g. FISH) and array-based analyses (Array-CGH) of constitutional chromosome aberrations

Diagnosis of disorders caused by epigenetic changes (e.g. imprinting defects)

All types of Hereditary Disorders (Monogenic, Multifactorial, and Epigenetic)

Diagnosis of Malformation and Retardation Syndromes

Predictive Genetic testing

Hereditary Cancer Syndromes

High risk pregnancies (exogenous or genetic)

Infertility and recurrent miscarriage

Identification non-coding mutations and structural variants as the cause of human disease

Identification of new candidate genes and epigenetic changes linked to human disease

Pathophysiological role and clinical relevance of genetic and epigenetic abnormalities in Hematopoietic (Leukemia, Lymphomas) and solid tumors

Imprinting disorders and syndromes caused by chromosomal (micro)aberrations

Development of new technologies for genetic and epigenetic research and diagnostics

Development of single cell technologies

For medical students: Organization of the obligate classes of “Human Genetics” (practical course/lecture/test). Participation in classes, “Biology of the Cell” (practical course, lecture), “Methods of Scientific Work” and interdisciplinary lecture series “Current Questions of Medical Ethics”; Practical training year for last-year students