・Maternal serum cholesterol levels and childhood neurodevelopment・Maternal metabolism, nutrition, and metabolomics profile of children・Maternal perfluoroalkyl substances exposure and childhood asthma・Pregnancy hypertension and childhood febrile convulsions・Breastfeeding and childhood constipation・Relationship between umbilical cord blood biomarkers and neurodevelopment disorders・Relationship between heavy metals, trace elements, and neurodevelopment disordersOutlook for research11“We encountered a patient with characteristic facial features, multiple congenital contractures, and large subcutaneous hematoma (Kosho et al., 2005; 2010)Isolation of CHST14Defective activities of D4ST1Defect of dermatansulfateNext-generation-based approaches“Target resequencingof ID-related genes”“Whole exomesequencingEstablishment of Musculocontractural Ehlers-Danlos Syndrome, (Kosho type) !The first human disorder in dermatan sulfate biosynthesis !“Referral of patients with IDInsufficient assembly of collagen fibrils“Uncovering molecular pathology of 4p-syndrome(Shimizu et al, 2013)“Cytogenetic investigation”Classical to advanced approaches !・ Comprehensive study of hereditary connective tissue disorders, especially Ehlers-Danlos ・ Genetic investigation for intellectual disabilities (ID), autism spectrum disorders (ASD), ・ Molecular cytogenetic investigation including microarray and FISH・Comprehensive genetic analysis (whole exome sequencing, RNA-seq) for congenital mutiple malformation and/or intellectual disabilitiesOutlook for researchSyndrome Kosho type (musculocontractural EDS-CHST14)epilepsy, congenital malformation syndromes, and adult neurological disorders.The best part of clinical genetics is to establish a new disease entity from only one patient. To find the disease-causing gene could be a breakthrough in understanding the pathophys-iology of the disease, developing innovative therapies, and uncovering relevant biological bases.After obtaining a medical specialist such as a pediatrician, you can enter our “clinical genetics” course where you have sufficient training for clinical, cytogenetic, and molecular genetics to obtain a certified clinical geneticist.We will be able to investigate a wide range of environmental factors that could affect chil-dren’s health and development. The study products will be used to develop better chemical risk management strategies. The Japanese Government will also use the information to help plan health policy and services for future children.After graduation, you will be able to become ・ a public health physician.・ an obstetrician and gynecologist or an obstetrician and gynecologist.・ an academic or a researcher.Research subjectResearch subjectOutlook for students after graduationOutlook for students after graduation“ID Clinic”, the first genetic clinic on pa-tients with ID in Japan ! What will be measured ? Environmental exposures and children’s health outcomes are measured.The protocol of JECS; The babies will be followed-up until they reach 13 years old, and JECS investigate the relationship between environmental exposures and chil-dren’s health outcomes. Summary of ActivityWe conduct genetic investigation on human genetic / congenital disorders, in collaboration with Center for Medical Genetics, Shinshu University Hospital. The main theme is to “hunt disease-causing genses” through careful clinical assess-ment and advanced genetic analyses including next-generation sequencing. Together with clinical studies on these disorders, we aim to make a contribution to establish a society where these patients can live healthy and happy lives.Summary of ActivityThe Japan Environment and Children’s Study (JECS) is a national birth cohort study in Japan. It is commissioned by the Japanese Government. It started in January 2011. The babies born to the mothers will be followed-up until they reach 13 years of age.It is the largest birth cohort study first ever conducted in Japan that investigate the relationship between a wide range of environmental factors and children’s health and development.The investigation of school children aged 12 years old is scheduled to begin in 2013.Several studies have started using obained data until now.Let’s hunt disease-causing genes!For the happiness of patients and families! The Japan Environment and Children’s Study (JECS) ~The present for future children~Medical Genetics（Chief: Prof. Tomoki Kosho）Preventive Medicine and Public Health（Chief: Prof. Tetsuo Nomiyama）
元のページ ../index.html#13