Tohoku university school of medicine

Our department has been launched in 1997 and specialized in medical genetics. We maintain keen research and clinical activities in close collaboration with department of pediatrics. Our research aim is to understand the mechanisms of life phenomenon by exploring the pathogenesis of genetic disorders. By using techniques of molecular analysis, molecular biology, and animal models, we investigate pathogenesis of genetic diseases, including disorders with dysregulation of cell signaling pathways and inborn errors of metabolism. In 2005 and 2006, we discovered HRAS germline mutations in patients with a one of congenital anomaly syndromes, Costello syndrome, and KRAS and BRAF mutations in patients with CFC syndrome. The observations led us to propose a new disease concept "the RAS/MAPK syndromes". Also we are the first to reveal molecular bases of several inborn errors of metabolism, such as non-ketotic hyperglycinemia and BH4-responsive phenylalaine hydroxylase deficiency. On clinical side, we provide genetic outpatient clinic and genetic counseling service, which is the largest in Tohoku area. Tohoku University Hospital is one of the certified facilities for training medical geneticists and we have trained many clinical geneticists in the past years. Currently our department is the home of the secretarial office of the Committee for Japanese Board of Clinical Genetics.

1)Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nature Genetics 37, 1038-40 2005

2)Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nature Genetics 38, 294-6 2006

3)Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Human Mutation.　27:343-352 2006

4)Inborn Erros of Development 2nd edition, Chapter 64　HRAS and Costello syndrome Oxford University Press, ISBN-10: 0195306910, ISBN-13: 978-0195306910 2008

5)Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip. Human Mutation.　22(2):166-72. 2003

gene, congenital anomaly syndrome, inborn errors of metabolism, Noonan syndrome, Costello syndrome, cardio-facio-cutanerous syndrome, nonketotic hyperglycinemia, molecular analysis, Ras, cell signaling