5Research subjectOutlook for researchOutlook for students after graduationWe conduct genetic investigation on human genetic / congenitaldisorders, in collaboration with Center for Medical Genetics, ShinshuUniversity Hospital. The main theme is to “hunt disease-causinggenes” through careful clinical assessment and advanced geneticanalyses including next-generation sequencing. Together with clinicalstudies on these disorders, we aim to make a contribution to establisha society where these patients can live healthy and happy lives.Research subjectOutlook for researchOutlook for students after graduation Insufficient assembly of collagen fibrilsUncovering molecular pathology of 4p- syndrome“Cytogenetic investigation”Classical to advanced approaches !“ID Clinic”, the first genetic clinic on patients with ID in Japan ! ・Study on the Mechanisms of Inflammation Regulation Focusing on ・Signal transduction molecules that convey various intracellular signals for Today, in the field of immunology, growing numbers of new therapies are broughtforth for cancers and immune-related diseases such as rheumatoid arthritis. Alsouncovered recently is the contribution of the immune system to the regulation ofgood relationship between our health and bacteria living in the gut and skin.Deeper understanding of the immune system will hence provide us with valuablehints on not only improvement of disease diagnosis and therapies, but also betterlife styles to keep ourselves healthy.By acquiring basic knowledge and gaining practical skills in immunology in ourlaboratory, graduates are expected to be clinicians who have scientist’s eyes andcontinuously ask ‘why’ and ‘how’ also in clinics.One of our body’s activities essential to live healthy is the immune system.This system has to work properly, and with too weak immunity we arevulnerable to infections and cancers, while too strong immunity leads toIn order to understand how theallergies and autoimmune diseases.immune system works, our laboratory pursues the mechanisms by whichto generate various cells in the immune system and to make them workappropriately. These studies will contribute to the prevention and cure ofvarious diseases.Monocytes and Macrophagesthe functions of immune cells. ・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),epilepsy, congenital malformation syndromes, and adult neurological disorders・Molecular cytogenetic investigation including microarray and FISHThe best part of clinical genetics is to establish a new disease entity fromonly one patient. To find the disease-causing gene could be a breakthroughin understanding the pathophysiology of the disease, developing innovativetherapies, and uncovering relevant biological bases.After obtaining a medical specialist such as a pediatrician, you can enter our“clinical genetics” course where you have sufficienttraining for clinical,cytogenetic, and molecular genetics to obtain a certified clinical geneticist.Molecular and 寄生虫感染症学教室cellular immunologyAsso. Prof. Hideki Sanjo（チーフ：特任教授・高本雅哉）Medical GeneticsProf. Tomoki KoshoFig.1 Analysis of immune cell populations in the spleen in mice, separated by 4 parameter flowcytometry technique. (yellow: neutrophils, light blue: monocytes, light green: macrophages, pink: dendritic cells) .Fig.2 Leukocytes were collected from the peritoneal cavitybefore and after the induction of peritonitis, and macrophages(Mac-1 and Mac-2) were isolated using a cell sorter.RNA purified from each sorted macrophage population wasthen subjected to RNA-seq analysis.We encountered a patient with characteristic facial features, multiple congenital contractures, and large subcutaneous hematoma Isolation of CHST14Defective activities of D4ST1Defect of dermatan sulfateEstablishment of Musculocontractual Ehlers-Danlos Syndrome, (Kosho type) !The first human disorder in dermatan sulfate biosynthesis !Referral of patients with IDNext-generation-based approachesTarget resequencing of ID-related genesWhole exome sequencingCD11cLy6CLy6GF4/80RNA-seq analysisMac-1 Mac-2Mac-1Mac-2How the immune system is built up and works rightlyLet’s hunt disease-causing genes!For the happiness of patients and families!
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