Our research goal is to elucidate disease causalities and their patho-etiologies, and ultimately to develop therapeutic tool. With the advent of next generation sequencing technologies, it becomes very handy to identify causalities of monogenic diseases as well as complex diseases. With the vast of genomic information at hand, we will combine gene expression profiles of the responsible tissues together with clinical information to understand the global picture of diseases.
The basic unit of heredity as disease causality might well be the regulatory region and not only the gene. The integrated functional properties based on a Next generation sequencer will open the way to understand the disease mechanisms.
Romero,V., Hosomichi, K., Nakaoka,H., Shibata,H., and Inoue, I. (2017) Structure and evolution of the filaggrin gene repeated region in primates. BMC Evol Biol 17, 10.
Ahmadloo, S., Nakaoka, H., Hayano, T., Hosomichi, K., You, H., Utsuno, E., Sangai, T., Nishimura, M., Matsushita, K., Hata, A., Nomura, F., Inoue, I. (2017) Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2. J Hum Genet 62, 561-567.
Nakaoka, H., Gurumurthy, A., Hayano, T., Ahmadloo, S., Omer, W.H., Yoshihara, K., Yamamoto, A., Kurose K., Enomoto, T., Akira, S., Hosomichi, K., and Inoue, I. (2016). Allelic imbalance in regulation of ANRIL through chromatin interaction at 9p21 endometriosis risk locus. PLoS Genet 12, e1005893.