We seek to understand the genomic architecture of complex inherited diseases and to study the underlying molecular mechanisms that burden patients with an increased susceptibility. Understanding predisposition allows us to model how environmental factors coalesce to amplify disease manifestation. This knowledge helps us to formulate precise treatments for our patients, taking into consideration their genetic makeup as well as “multi-omic” information. Ultimately, we want to combat disease by predicting susceptibility at an early stage and then preventing the onset.
Our approach is to combine clinical insight gleaned from our patients with high-throughput “omics” analysis such as array-based genotyping, next generation sequencing, and analysis of the proteome, transcriptome and other omics layers. We then investigate the functional relevance of identified markers using cellular and animal models.
We partner with specialized outpatient clinics at the Klinikum rechts der Isar of the Technische Universität München and specialized hospitals in order to learn the needs of our patients. Moreover, with respect for patients and their family’s cooperative spirit, we can transfer the knowledge we gain directly back into the clinic for prevention, self-observation and treatment.
Zech M, Boesch S, Maier EM, IBorggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM and Winkelmann J.Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am J Hum Genet 2016 Dec 1;99(6):1377-1387.
Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early- onset isolated dystonia. Am J Hum Genet 2015 Jun 4;96(6):883-93.
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Schormair B*, Kemlink D*, Roeske D, Eckstein G, Xiong L, Lichtner P, Trenkwalder C, Zimprich A, Högl, Poewe W, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Vodicka P, Vávrová J, Sonka K, Montplaisir J, Turecki G, Rouleau G, Gieger C, Thomas Illig, H-Erich Wichmann H-E, Holsboer F, Müller-Myhsok B, Thomas Meitinger T, Winkelmann J. Protein-tyrosine Phosphatase Receptor Type Delta (PTPRD) is Associated with Restless Legs Syndrome. Nature Genetics 2008;40:946-948.