医学科研究紹介_2017-2018_英語版

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12 The Japan Environment and Children’s Study (JECS) ~The present fo future children~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.Environmental exposures and children’s health outcomes are measured.・reproduction and pregnancy complications and congenital anomalies.・neuropsychiatric disorders.・allergic disorders, obesity and diabetes mellitus. 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 subjectOutlook for researchOutlook for students after graduationPreventive Medicine and Public Health（Chief: Prof. Tetsuo Nomiyama）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. Let’s hunt disease-causing genes!For the happiness of patients and families!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.・ Comprehensive study of hereditary connective tissue disorders, especially Ehlers-Danlos Syndrome Kosho type (musculocontractural EDS-CHST14)・ Genetic investigation for intellectual disabilities (ID), autism spectrum disorders (ASD), and epilepsy・ Molecular cytogenetic investigation including microarray and FISHThe 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.Research subjectOutlook for researchOutlook for students after graduationMedical Genetics（Chief: Associate Prof. Tomoki Kosho）“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 dermatansulfateInsufficient assembly of collagen fibrilsEstablishment of Ehlers-Danlos Syndrome, Kosho type !“Referral of patients with ID“Target resequencingof ID-related genes”“Whole exomesequencingNext-generation-based approaches-tients with ID in Japan ! “Uncovering molecular pathology of 4p-syndrome(Shimizu et al, 2013)“Cytogenetic investigation”Classical to advanced approaches !