Cardiomyopathy Resequencing - Translation of Next Generation Resequencing into clinical care of cardiomyopathy patients

Coordinator:		Prof. Dr. Hugo A. Katus                                                                          PD Dr. Arne Pfeufer
Institution:		Universitätsklinik Heidelberg, Innere Medizin III: Kardiologie, Angiologie und Pneumologie                                                                                TU München
Homepage:		www.rottbauerlab.com

Cardiomyopathies are a leading cause of morbidity and mortality worldwide. The aim of the subproject „Cardiomyopathy Resequencing” at the University Hospital Heidelberg in cooperation with the TU München is to improve genetic diagnostics for the identification of mutations in known and novel candidate genes of cardiomyopathies. Specifically, the prototype of a “Sequence Capture Microarray” (febit AG, Heidelberg) for a routine high-throughput sequencing approach will be developed.
Known and potential candidate genes are selected considering newest results in the research of cardiomyopathies, and relevant promoter and exon sequences will be identified using bioinformatic methods. Based on these sequences, capture oligonucleotide microarrays will be designed in cooperation with industry partners. These chips are then used for the selective enrichment of target sequences out of the genomic DNA of patients. The enriched gene segments are subsequently analyzed by "next generation sequencing" and the obtained sequences are compared with conventional Sanger capillary resequencing, considered to be todays gold-standard.