Yoichi Matsubara, M.D.Professor, Department of Medical Genetics Tohoku University School of Medicine, Sendai, Japan.
Professor Matsubara has been involved in molecular analysis of various single gene disorders for the past 30 years. Professor Matsubara and co-workers have cloned the genes for the first time for medium-chain acyl-CoA dehydrogenase (the disease-causing gene for MCAD deficiency), isovaleryl-CoA dehydogenase (isovaleric acidemia) and holocarboxylase synthetase (multiple carboxylase deficiency). They also characterized mutations in other inherited metabolic diseases, including the first documentation of tetrahydrobiopterin (BH4)-responsive phenylketonuria. More recently, they have revealed germline HRAS mutations in Costello syndrome and germline KRAS and BRAF mutations in cardiofaciocutaneous (CFC) syndrome and proposed the concept of the "RAS/MAPK pathway syndrome"

Professor Matsubara is concerned about current status of mutation collection and mutation database in Asian populations. They are not well-organized and most of the databases written in country-specific languages are invisible to international scientific community. It is important to dig out such under-represented valuable information. Also, as the President of the International Federation of Human Genetic Societies (IFHGS), I would like to promote communication throughout the international community of human geneticists.