?Molecular cytogenetic investigation including microarray and FISHPre-metastatic permeability controlled by innate immune system. Initially, tumor-derived CCL2 stimulates CCR2 in the pre-metastatic lungs. Next, this induces S100A8-SAA3 pathway and stimulates TLR4/MD2 cycles. Those cascades further promote hyper-permeability and inflammation.Detection of the focal region in tumor-bearing mice with the permeability phenomena.LLC and E0771, breast cancer cells lines, were used to generate tumor-bearing mice. Note that some hyper-permeability area made by Evans Blue dye injection, was found in tumor-bearing mouse lung.We encountered a patient with characteristic facial features, multiple congenital contractures, and large subcutaneous hematoma Isolation of CHST14Defective activities of D4ST1Insufficient assembly of Defect of dermatan sulfateEstablishment of MusculocontractualEhlers-Danlos Syndrome, (Kosho type)!The first human disorder in dermatan sulfate biosynthesis !Referral of patients with IDNext-generation-based Uncovering molecular pathology of 4p-syndromeapproachesTarget resequencing of ID-related genesWhole exome sequencing“ID Clinic”, the first genetic clinic on patients with ID in Japan ! “Cytogenetic investigation”Classical to advanced approaches !collagen fibrils（バイオメディカル188bet体育_188bet备用网址所）Oureffortsaredirectedtorevealmolecularmechanismsoftumorigenesisandtumormetastasis.Byusingtumor-bearingmousemodelsystem,wehavedeterminedthatprimarytumorelicitsaninflammatoryreactioninaremoteorganbeforemetastasis,whichistermedas"premetastaticsoil".Thisinflammatoryreactionenhancesvascularpermeability,andrecruitmentofimmunosuppressorcellsand/orcirculatingtumorcells,thesefactorsincreasetheriskoftumormetastasis.Thus,weconsiderthatcontrollingthepremetastaticphaseisanimportantsteptopreventtumormetastasis.Weconductgeneticinvestigationonhumangenetic/congenitaldisorders,incollaborationwithCenterforMedicalGenetics,ShinshuUniversityHospital.Themainthemeisto“huntdisease-causinggenes”throughcarefulclinicalassessmentandadvancedgeneticanalysesincludingnext-generationsequencing.Togetherwithclinicalstudiesonthesedisorders,weaimtomakeacontributiontoestablishasocietywherethesepatientscanlivehealthyandhappylives.?Genetic investigation for intellectual disabilities (ID), autism spectrum disorders (ASD),epilepsy, congenital malformation syndromes, and adult neurological disordersProf. SachieHiratsuka（教授平塚佐千枝）Research subject?Investigation of a mechanism of the carcinogenesis?Elucidation of cancer metastasis?Functional analysis of anti-metastatic cellsOutlook for researchToday,inacancertherapy,especiallyagainstmetastaticcancer,anticancerdrugtreatmentwasemployed.Ourmousestudyrevealedthatasubtypeofinnateimmunecellshaveanti-metastaticabilities.Thesecellscanceltheformationandattackagainstmetastaticcells.Wearepremetastaticsoilconsideringclinicalapplicationbasedonourresearchdata.Outlook for students after graduationThroughthecancerstudy,youcanextendyourviewsofvariousfields.Itwillgiveyougreatactivityinmanykindsofarea,suchashealthcare,education,publicadministration,research,andsoon.Prof.Tomoki Kosho（遺伝子医療188bet体育_188bet备用网址センターセンター長/教授?古庄知己）Research subject?Comprehensive study of hereditary connective tissue disorders, especially Ehlers-Danlos syndrome Kosho type (musculocontracturalEDS-CHST14)Outlook for researchThebestpartofclinicalgeneticsistoestablishanewdiseaseentityfromonlyonepatient.Tofindthedisease-causinggenecouldbeabreakthroughinunderstandingthepathophysiologyofthedisease,developinginnovativetherapies,anduncoveringrelevantbiologicalbases.Outlook for students after graduationAfterobtainingamedicalspecialistsuchasapediatrician,youcanenterour“clinicalgenetics”coursewhereyouhavesufficienttrainingforclinical,cytogenetic,andmoleculargeneticstoobtainacertifiedclinicalgeneticist.分子医化学遺伝医学6Biochemistry andMolecular BiologyMedical GeneticsSearching a key for suppressing cancer metastasisLet’s hunt disease-causing genes!For the happiness of patients and families!
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