Outline

The mission of this Scientific Research on Innovative Areas,“Exploring molecular basis for brain diseases based on personal genomics” is to establish the new research paradigm to explore molecular basis for brain diseases based on personal genomics. This projects consists of three areas;1. Development of technologies to enable personal genome analyses with high accuracy,2. Development of “cutting-edge” informatics for analyses of personal genomne,and 3. Identification of molecular basis of brain diseases including Alzheimer disease,Parkinson disease,amyotrohic lateral sclerosis,spinocerebellar degeneration and schizophrenia based on personal genome analyses. Integration of the above three disciplines will be the key for the innovative research fields.

Genome-wide association studies (GWAS) employing common SNPs with minor allele frequency usually larger than 0.05 have recently revealed numerous variants associated with diseases. Such variants,however,usually have limited effect sizes,hence we are yet to understand the entire molecular basis for brain disease. Previous clinical genetic analyses suggest involvement of strong genetic factors. To identify the “missing heritability”,we need to focus on rarer variants based on comprehensive personal genome analyses. Given the enormous information obtained by next-gen sequencers,analyses of personal genome are a challenging mission in terms of sequencing,informatics and genetics. Integrating the three disciplines of sequencing,informatics and genetics,this project will explore the molecular basis for brain diseases based on personal genomics.

Project A01:Development of technologies for personal genome analyses

Project A02:Identification of molecular basis of brain diseases

Project A03:Genome Informatics