grant
Pilot project
Organization BOSTON CHILDREN'S HOSPITALLocation BOSTON, UNITED STATESPosted 30 Sept 2014Deadline 31 Jul 2030
NIHUS FederalResearch GrantFY202521+ years old22q13 deletion syndromeASDAccelerationAccess to CareAddressAdultAdult HumanAdvisory CommitteesAffectAlabamaAreaAutismAutistic DisorderAwardBiological FunctionBiological MarkersBiological ProcessBourneville DiseaseBourneville PhakomatosisBourneville syndromeBourneville-Brissaud diseaseBourneville-Pringle syndromeBrain DiseasesBrain DisordersChargeClinicalClinical ResearchClinical StudyClinical TrialsCollaborationsCommittee MembersCommunitiesCommunity EducationCommunity Health EducationComplementComplement ProteinsDataDevelopmentDevelopment and ResearchDisciplineDiseaseDisorderEarly Infantile AutismElectrophysiologyElectrophysiology (science)Encephalon DiseasesEnrollmentEnsureEpiloiaEvaluationFamilyFundingFunding AgencyFunding SourceFutureGenetic DiseasesGoalsGrantHealth Services AccessibilityHuman Subject ResearchIRBIRBsIndividualInfantile AutismInfrastructureInstitutionInstitutional Review BoardsIntellectual disabilityIntellectual functioning disabilityIntellectual limitationIntracranial CNS DisordersIntracranial Central Nervous System DisordersInvestigatorsKanner's SyndromeLeadLeadershipMMAC1MMAC1 proteinMapsMentorsMonitorMutated in Multiple Advanced Cancers 1NIH RFANational Institutes of HealthNatural HistoryNeurophysiology / ElectrophysiologyNeuropsychologiesNeuropsychologyPHTS genePHTS proteinPTENPTEN Hamartoma Tumor SyndromePTEN Hamartoma Tumor Syndrome With Granular Cell TumorPTEN genePTEN proteinPTEN1PathogenicityPatientsPb elementPediatric NeurologyPhase 1/2 Clinical TrialPhase I/II Clinical TrialPhelan-McDermid syndromePhenotypePhosphatase and Tensin HomologPhosphatase and Tensin Homolog Deleted on Chromosome 10Pilot ProjectsPoliciesPrincipal InvestigatorPringle diseaseProceduresProcessProfessional OrganizationsProgress ReportsProtocolProtocols documentationR & DR&DR-Series Research ProjectsR01 MechanismR01 ProgramRegulationRegulatory approvalRequest for ApplicationsResearchResearch GrantsResearch PersonnelResearch PriorityResearch Project GrantsResearch ProjectsResearch ProposalsResearch ResourcesResearchersResourcesReview CommitteeSDZ RADSYNGAP1SafetySiteSocietiesStandardizationSynaptic Ras GTPase Activating Protein 1Task ForcesTranslational ResearchTranslational ScienceTuberous SclerosisUnited States National Institutes of HealthUniversitiesVariantVariationWorkaccess to health servicesaccess to servicesaccess to treatmentaccessibility to health servicesadenoma sebaceumadulthoodadvisory teamautism spectral disorderautism spectrum disorderautistic spectrum disorderavailability of servicesbio-markersbiologic markerbiological developmentbiomarkercare accesscareercerebral sclerosischild neurologycohortcommunity involvementcomplementationdata accessdevelop therapydevelopmentaldigitalelectrophysiologicalenrollepiploiaeverolimusgenetic conditiongenetic disorderhealth service accesshealth services availabilityheavy metal Pbheavy metal leadhereditary multiple system hamartomatosishigh rewardhigh riskinnovateinnovationinnovativeintellectual and developmental disabilityinterestintervention developmentlimited intellectual functioningmTOR Inhibitormeetingmeetingsmembermutated in multiple advanced cancers 1 proteinneurinomatosis centralisneuromatosis universalisneuropsychiatricneuropsychiatryneuropsychologicneurospongioblastosis diffusanew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnovelnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapypatient advocacy groupphacomatosisphosphatase and tensin homolog hamartoma tumor syndromephosphatase and tensin homologue on chromosome tenpilot studyprofessional associationprofessional membershipprofessional societyregulatory authorizationregulatory certificationregulatory clearanceresearch and developmentresearch studyresponsesclerosis tuberosaservice availabilityspongioblastosis circumscriptasuccesstherapy developmenttooltranslation researchtranslational investigationtreatment accesstreatment developmenttuberose sclerosistuberous sclerosis complexweb sitewebsite
Description preview
Project Summary/Abstract
Within the Developmental Synaptopathies Consortium (DSC), we have chosen approaches and tools that can
be implemented rigorously at the DSC sites in order to leverage the large number of patients with
neuropsychiatric manifestations in TSC, PHTS, and PMS and enable cross-syndromic comparisons between
these disorders. In…
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