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Department Prof. Dr. H.-Hilger Ropers
Phone (+49 30) 8413 1241
Fax (+49 30) 8413 1383
ropers@molgen.mpg.de
Our department focuses on the systematic elucidation of monogenic disorders, as a prerequisite for their molecular diagnosis, prevention and treatment, but also as a strategy to shed light on the function of human genes. Our arsenal of large-scale approaches to identify disease-causing gene defects is broad. It includes high-throughput mutation screening, rapid breakpoint mapping in patients with balanced chromosome rearrangements, SNP-array-based homozygosity mapping in consanguineous families with recessive diseases, high-resolution array CGH to detect submicroscopic deletions and duplications, as well as array-based gene expression profiling.
The central topic of our research is the study of mental retardation (MR) and related disorders. We and others have shown that the complexity of MR is largely due to genetic heterogeneity. Recent data indicate that this also applies to a variety of related disorders that are generally considered as multifactorial, which explains the generally meagre results of previous association studies. These data will provide numerous novel starting points for research into the pathogenesis of Mendelian and complex disorders, many of which are still largely unexplored.
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