Our focus is to identify genetic factors that cause or modify monogenic diseases. Learning about the cause of a disease helps to understand, or to start to study, the subsequent disease processes and aims to develop more effective diagnostics and eventually preventive or therapeutic strategies. We have been using traditional linkage analyses, candidate gene sequencing, and array-CGH, and have now applied sequence capture via arrays and subsequent massive parallel sequencing to identify disease causing genes. With a sufficient supply of patient material this provides us with a continuous flow of novel genes and mutations. This project is interdisciplinary and involves clinicians for sampling, diagnosing, and phenotyping as well as bioinformatitions for the analysis of phenotypic and sequence data, and sequencing technology for mutation identification.

Weise A, Timmermann B, Grabherr M, Werber M, Heyn P, Kosyakova N, Liehr T, Neitzel H, Konrat K, Bommer C, Dietrich C, Rajab A, Reinhardt R, Mundlos S, Lindner TH, Hoffmann K.
High-throughput sequencing of microdissected chromosomal regions.
Eur J Hum Genet. 2009 Nov 4.