Charcot-Marie-Tooth’s (CMT) Disease is characterized by marked locus heterogeneity. Thus, it is expected that far more than 40 genes can cause the disease. The present diagnostic strategy in the Danish laboratories is based on the prevalence of mutations observed in studies outside Denmark, primarily in North America. By using NGS technology we aim at developing a platform capable of analysing all known genes that are presently known to be associated with CMT. In patients where the disease cannot be explained by the currently known genes, the analysis can be expanded to cover the whole exome (expressed fraction of the genome). Exome analysis gives the opportunity to identify new CMT disease genes. We also perform prevalence studies of the disease in Denmark. The project is done in collaboration with Department of Neurology, Aarhus University Hospital, Department of Clinical Genetics, Rigshospitalet and Department of Clinical Genetics, Odense University Hospital.

Contact:

Uffe Birk Jensen, MD, PhD, Professor, Consultant
Tel:+45 7845 5504, Mobile: +45 3038 7154 , E-mail: uffejens@rm.dk