The 49th In Silico Megabank Research Seminar(September 12, 2014)

The 49th In Silico Megabank Research Seminar will be held on Friday, September 12.

This Time, we will be welcoming Dr. Kohda, Saitama Medical University as our lecturer, and he will be speaking on “Comprehensive Genomic Analysis on Mitochondrial Respiratory Chain Disorder”.
・Date/Time : September 12(Friday) 17:00‐18:30
・Venue : Small Conference Room 2(3rd Floor), Tohoku Medical Megabank Building
・Title : Comprehensive Genomic Analysis on Mitochondrial Respiratory Chain Disorder
・Lecturer : Masakazu Kohda(Research Center for Genomic Medicine, Saitama Medical University)

*This lecture is transferable as a class in the medical research-related lecture course.

・Abstract : Mitochondrial respiratory chain disorder (MRCD) is one of the intractable diseases and is an inborn error of metabolism with frequent incidence of 6.2 in 100,000 infants. Abnormality of various protein involved in respiratory chain complex has been revealed as a cause of MRCD; until now approximately 150 causative genes have been found. However, some part of causative genes and the mechanism of the development still remain unknown. In the research, 6 mitochondria-related genes were successfully found as new causative genes through comprehensive genomic analysis on MRCE. Furthermore, multiple genes with unknown direct relationship with MRCD were identified as causative genes for the occurrence of phenotype in patients. Data obtained in this research can contribute to the development of the foundation of genomic analysis for MRCD; thus, high usability of the findings from the data on the understanding of genes, which have been yet remained unknown, is expected.

・Organizer : Masao Nagasaki