ゲノム・エピゲノム異常を指標とするがんと遺伝疾患関連遺伝子探索研究

Genetic abnormalities/variations contribute to the most of human diseases including cancer and congenital disorders. Advances in tools for human genome analysis, such as genomic arrays and next-generation sequences, based on the information of human genome sequences provided a great opportunity to identify novel causative genes and disease-associated genes through whole exploration of disease-specific abnormalities in the sequence and copy-number levels. Novel target genes for cancer diagnosis and therapy could be identified through combined structural and functional approach for cancer genome using whole genome and epigenome scanning by array and sequencer as well as functional and expression analyses of candidate genes, resulting in the development of novel diagnostic and therapeutic methods useful for the ‘ personalized medicine’ .