[Present efforts in the medical genome center at the University of Tokyo Hospital].

Technologies associated with massively parallel sequencing have evolved rapidly over the last several years, making it possible to cost-effectively sequence the whole human genome and exome in a short period of time. These technologies are expected to bring about a better understanding of genetic components underlying monogenic diseases, as well as diseases inherited in a non-Mendelian fashion. They will eventually cause a paradigm shift in clinical practice, where the diagnosis and decision-making for appropriate therapeutic procedures is based on the "personal genome". In this review, we outline some of our recent efforts in the Medical Genome Center at the University of Tokyo Hospital, including an identification of the causative gene for a Mendelian disease (posterior column ataxia with retinitis pigmentosa), an approach to uncover susceptible genes for a non-Mendelian disease (Parkinson disease), and an application of exome sequencing for the molecular diagnosis of a disease with vast genetic heterogeneity (hereditary diffuse leukoencephalopathy with spheroids). We also discuss the advantages and limitations of these emerging technologies.