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  • IntellectualandDevelopmentalDisabilitiesResearchCenter

    (IDDRC)

    E. Mark Mahone, Ph.D., ABPP, DirectorS. Ali Fatemi, M.D., M.B.A., Co-Director

    Erin Jones, B.A., Project Manager

    U54 HD079123

  • IntellectualandDevelopmentalDisabilitiesResearchCenter(IDDRC)

    Provides research services to faculty engaged in research related to the field of IDD at little or no cost

    Funded by NICHD IDDRC services include:

    Consultation and protocol development

    Registries and recruitment Access to lab and imaging facilities Testing facilities Statistical analyses And more!

    For more info or to request IDDRC services: www.KennedyKrieger.org/IDDRC

  • IDDRCatKennedyKrieger

    JointventurebetweenKKIandJHU Oneof14nationalcenters Currentannualbudget~$800,000direct Currently:5coresand1researchproject >50faculty/stafffromKKI&JHU Supports~100studiesannually

    Produces~100publicationsannually Nationalrepresentation

  • IDDRCAffiliatedPrograms HugoMoserResearchInstitute KennedyKriegerClinics F.M.KirbyResearchCenterfor

    FunctionalBrainImaging MarylandCenterforDevelopmental

    Disabilities IDDRCNationalNetwork MidAtlanticConsortiumofIDDRCs TheJohnsHopkinsInstitutefor

    ClinicalandTranslationalResearch JohnsHopkinsGeneticResources

    CoreFacility EuniceKennedyShriverNational

    InstituteonChildHealthandHumanDevelopment

    KennedyKriegerClinicalTrialsUnit KennedyKriegerCenterforAutism

    andRelatedDisorders

    WendyKlag CenterforAutismandDevelopmentalDisabilities

    LeadershipinNeurodevelopmentalandOtherRelatedDisabilities(LEND)ProgramattheKennedyKriegerInstitute

    KennedyKriegerNeuropsychologyResearchLab

    InteractiveAutismNetwork AssociationofUniversityCenterson

    Disabilities CenterforInnovationandLeadership

    inSpecialEducation JohnsHopkinsMcKusickNathans

    InstituteofGeneticMedicine

  • KKIIDDRCHistory AResearchInstitutewasestablishedwithinKKIin1987

    AnIntellectualandDevelopmentalDisabilitiesResearchCenter(calledMRRCandMRDDRCatthetime)wasincludedascentraltotheResearchInstitute.

    Centerleadershiphaschangedapproximatelyevery89years,withformerdirectorsoverlappingwithnewones,thusensuringstabilityandorderlysuccession. HugoM.Moser,M.D.(19871996) MarthaB.Denckla,M.D.(19962005) MichaelCataldo,Ph.D.(20052014) WayneSilverman,Ph.D.(20142017) MarkMahone,Ph.D.(2017present)

  • IDDRCEra:30YearsofProgress

  • KKISpecializedClinics

    AtaxiaTelangiectasiaClinic BarthSyndromeClinic BoneDisordersProgram CenterforAutismandRelated

    Disorders CenterforBrainInjuryRecovery CenterforGeneticMuscleDisorders PhilipA.Keelty CenterforSpinaBifida

    andRelatedConditions DeafnessRelatedEvaluationsand

    More(DREAM)Clinic DownSyndromeClinicandResearch

    Center FetalAlcoholSpectrumDisordersClinic FragileXClinic GeneticCounseling(Neurogenetics) Holoprosencephaly andRelated

    MalformationsCenter

    HunterNelsonSturgeWeberCenter InfantNeurodevelopmentalCenter Infants,Toddlers,andpreSchoolYears

    (ITSY)Clinic KabukiSyndromeClinic MetabolismClinic MoserCenterforLeukodystrophies NICUClinic InfantHypothermiaDisorder(CHD) NeuropsychiatryinEpilepsyProgram OsteogenesisImperfectaClinic PhelpsCenterforCerebralPalsyand

    NeurodevelopmentalMedicine SickleCellNeurodevelopmentalClinic SleepClinic(Neurology) Rett SyndromeClinic TuberousSclerosisClinic

  • 2014 Present

    ThecurrentCenterhassupported:

    182

    UniqueResearchProjects

    129

    PrincipalInvestigators

    387

    PeerReviewed

    Publications

  • LabstoClinicstoCommunity

    CenteriscentraltoascientificenterpriseinvolvinginvestigatorsworkingtounderstandandaddressIDD

    NucleusofalargerprogramofresearchsupportedthroughtheHugoMoserResearchInstitute Leveraginginternationallyrecognizedexpertiseandinfrastructure,Centersgoalismovingknowledgealongthecontinuumfromlabstoclinicstocommunity

  • TranslationalScience

    Involvestranslationofbasicscientificfindingsfromthelaboratoryintopotentialtreatmentsandmeaningfulhealthoutcomes

    ForindividualswithIDD,interventionsmaynotresultincure Behavioralandcognitivechallengesremain Ongoingtreatmentsettingsinvolvesschools OpportunitytotranslatebasicandclinicalscientificfindingsinIDDtocommunitypractice(e.g.,schools)andpolicies(local/state/national)

  • Communities:TheT4Translation

    Westfall,JM,&Menash,GA(2018).T4translationalmoonshot:Makingcardiovasculardiscoveriesworkforeveryone.CirculationResearch.DOI:10.1161/CIRCRESAHA.117.312273

  • KennedyKrieger.org/IDDRC

  • ClinicalTranslationalCore

    Navigationtomoveideasfrominceptiontotranslation CoordinationwithotherIDDRC,KKI,andJHUresources Registriesandrecruitmentofresearchparticipants

    Development/implementationofclinicaltrials(CTU) RegulatoryapprovalsbyIRBandFDA

    Consultationonbiostatisticsandclinicaltrialdesign Neurosciencefacilities,includingJHUMicroscopyCore,brainhistologyandanimalsurgeryareas

    AccesstoJHUMetabolomicsCore ConsultationregardingiPSC development ConsultationwithCareySchoolofBusinessfaculty

  • ClinicalTrialsUnit ExamplesASD

    InvestigationalProductMechanism:BALOVAPTAN StudyObjective:Toevaluatetheefficacyof24weektreatmentwithbalovaptan (RO5285119)comparedtoplacebo

    BasicEligibility: Age517yearsold DSM5criteriaforASDorICD10criteriaforAutismdiagnosis

    confirmedbyADOS2criteria IQ70

    Compensation:$50.00foreachcompletedstudyvisit. Participationwilllastapproximately30weeksandwill

    includeapproximately7visitstoKKI.

  • ClinicalTrialsUnit Examples

    ADHD InvestigationalDevice:Device/iPAD game StudyObjectives:DeterminetheeffectsofcombiningAKL

    T01(withAKLX01symptomtracking)asadjunctivetreatmenttostimulantmedication

    BasicEligibility: Childrenages814yearsinclusiveatthetimeofconsent DiagnosisofADHDaccordingtotheDiagnosticandStatisticalManual

    ofMentalDisordersV(DSMV),confirmedwiththeMiniInternationalNeuropsychiatricInterviewforChildrenandAdolescents(MINIKID)

    ImpairmentRatingScale(ParentReport)scoreof3 Compensation:$125.00foreachcompletedstudyvisit. Participationwilllastapproximately84daysandwillinclude

    approximately4visitstoKKI

  • GenomicsCore PartnershipwithJohnsHopkinsGenomicsandtheInstituteofGeneticMedicine CLIAcompliantlaboratoryfacilities Clinicalexometesting,wholeexomesequencing(WES)andwholegenomesequencing(WGS)services

    Molecularcytogeneticsandmicroarray Tissuecultureandcellrepository Bioinformaticsandsoftwaredevelopment

  • NeuroimagingCore AccesstoresourcesofFMKirbyCenterforFunctionalBrainImagingandfaculty Education(courses)andtechnicalsupport Two3.0Tandone7.0Tscannersforhumans,and11.7Tand17.6Thighresolutionsmallanimalscanners

    Anatomicimaging(volume,shape,morphology) FunctionalMRI(taskandnontaskbased) Diffusiontensorimaging(DTI) MRspectroscopy Transcranialmagneticstimulation(TMS)

  • BehavioralPhenotypingCore Developmentofoutcomemeasuresforclinicaltrials Fullrangeofdeepbehavioralphenotypingmethods Examinationofrelationshipsbetweenbehavioralphenotypesandotherbiomarkers(genetic,epigenetic,physiological,neuroimaging)

    Quantitativestudyofmovementandmotorlearning DevelopmentofmethodsforelectrophysiologyandERPstudies

    Comprehensiveneuropsychologicaltestingfacilities Assistancewithpreparationforprocedures Clinicalregistryofphenotypedpatients

  • ResearchProject Focusedonreducingbraindamageininfantsexposedtoperinatalhypoxiaischemia(HI),employingamousemodeltoexaminepostinjuryimpactsofintervention EvaluatethecellulardistributionofDNACwithinmicroglia,astrocytesandneurons,whenadministeredimmediatelyafterHI,attheonsetofrewarming,or24hafterHI,withorwithouttherapeutichypothermia

    Comparetheneuroprotectiveefficacyachievedbyhypothermiaalone,DNACalone,andhypothermiaincombinationwithDNAC,inP7micesubjectedtoHI

  • AdministrativeCore

    ManagementandcoordinationofCenteractivities Website,newsletters,lectures

    SettingpoliciesforensuringthatCoreservicesreflectthehigheststandardsofqualityandefficiency

    DevelopinginteractionswithotherCenters CoordinatingeffortsamongLEND,MCDD,andAUCD Contributingtothetrainingofstudentsandearlycareerprofessionals(e.g.,MCDDtrainings)

    Outreach,communication,andadvocacyviaAUCD

  • Networkofinterdisciplinarycentersadvancingpolicyandpracticeforandwithindividualswithdevelopmentalandotherdisabilities,theirfamilies,andcommunities UCEDD(67) LEND(52) IDDRC(14)

    Federalpartners:MCHB,NICHD,CDC,ADD

  • Leadershiponmajorsocialproblemsaffectingallpeoplewithdevelopmentalorotherdisabilitiesorspecialhealthneeds

    AdvocacywithCongressandexecutivebranchagenciesthatfundandregulateprogramsusedbypeoplewithdisabilities

    Networkingandpartneringwithothernationalorganizationstoadvancethenetwork'snationalagendas

    Promotingcommunicationwithinthenetworkandwithothergroupsbycollecting,organizing,anddisseminatingdataonnetworkactivitiesandaccomplishments

    Technicalassistance provisiononabroadrangeoftopics

  • LinkingIDDRCDiscoveriestoAdvocacyviaMCDD

    U.S.DepartmentofLabor,OfficeofDisabilityEmploymentPolicy,CommunityofPracticeonyouthreceivingSSI

    CouncilofParentAttorneysandAdvocates MarylandCommunityofPracticeforSupportingFamilies TheMarylandDisabilityandHealthInclusionProgram MarylandDepartmentofHealth,DDA,QualityAdvisoryCouncil MarylandDevelopmentalDisabilitiesCouncil, CoalitiontoReformSchoolDisciplineinMaryland EducationAdvocacyCoalitionforStudentswithDisabilities FirstMarylandDisabilityTrust,Inc. CollaborativeLawProject TheArcofBaltimore MarylandCommissiononCaregiving MarylandRespiteCareCoalition

  • CILSE(est.2012)

    TranslatescientificdiscoveriesinIDDintoeducationalpracticeandpolicy

    Trainfutureedu