grant
Leveraging human musculoskeletal development to identify causal disease variants
Organization HARVARD UNIVERSITYLocation CAMBRIDGE, UNITED STATESPosted 1 Aug 2025Deadline 31 Jul 2030
NIHUS FederalResearch GrantFY202521+ years oldAddressAdultAdult HumanAnatomic SitesAnatomic structuresAnatomyAnkleArchitectureAssayAutomobile DrivingBase PairingBioassayBiologic ModelsBiological AssayBiological ModelsBiologyBirthBody TissuesBone structureCell BodyCellsCephalicChildbirthComplexContralateralCoxaCranialDataData SetDegenerative ArthritisDegenerative polyarthritisDevelopmentDiscipline of obstetricsDiseaseDisorderDysplasiaElbowEngineering / ArchitectureEnhancersEvolutionExtremitiesFetal SkeletonFunctional RNAGWA studyGWASGene Action RegulationGene ExpressionGene Expression RegulationGene RegulationGene Regulation ProcessGene TranscriptionGene variantGenesGenetic DiversityGenetic TranscriptionGenetic VariationGestationGlenohumeral JointHealthHeritabilityHigh PrevalenceHigh Throughput AssayHipHip region structureHistologicHistologicallyHumanHuman BiologyHuman DevelopmentInterphalangeal Joint of FootInterphalangeal joint of toeJoint by SiteJoint structure of shoulder regionJointsKneeKnee OsteoarthritisKnowledgeLimb structureLimbsLocationMammaliaMammalsMapsMethodsMiceMice MammalsModel SystemModern ManMolecularMolecular FingerprintingMolecular ProfilingMorphogenesisMorphologyMurineMusMusculoskeletalMusculoskeletal DevelopmentMusculoskeletal DiseasesMusculoskeletal SystemMusculoskeletal System DevelopmentNIAMSNational Institute of Arthritis, and Musculoskeletal, and Skin DiseasesNon-TrunkNoncoding RNANontranslated RNANucleic Acid Regulator RegionsNucleic Acid Regulatory SequencesObstetricsOrganOsteoarthritisOsteoarthrosisParturitionPelvicPelvic RegionPelvisPregnancyProtocolProtocols documentationRNA ExpressionRegio tarsalisRegional AnatomyRegulationRegulatory ElementRegulatory RegionsReporterResearchResearch PriorityResolutionRiskRunningSamplingShapesShoulder JointSideSiteSkeletonSkullSpecificityStudy modelsTechniquesTestingTimeTissuesToe JointTranscriptTranscriptionTraumaUntranslated RNAVariantVariationVertebraeVertebralWalkingWristadulthoodaging associated diseaseaging associated disordersaging related diseaseaging related disordersallelic variantcausal allelecausal genecausal mutationcausal variantcausative mutationcausative variantcell typechild birthcomparativecraniumdata resourcedegenerative joint diseasedevelopmentaldisease associated with agingdisease of agingdisease riskdisorder of agingdisorder riskdisorders associated with agingdisorders related to agingdrivingdyscrasiaepigenomeepigenomicsexperimentexperimental researchexperimental studyexperimentsfetalfunctional genomicsgenetic regulatory elementgenetic variantgenome scalegenome wide associationgenome wide association scangenome wide association studygenome-widegenomewidegenomewide association scangenomewide association studygenomic datagenomic datasetgenomic variantglobal gene expressionglobal transcription profilehand interphalangeal jointhigh throughput screeninghuman diseasehuman fetal tissuehuman fetus tissuehuman tissuehypertrophic arthritisimprovedinsightknee OAknee joint OAknee joint osteoarthritislocomotor systemmolecular profilemolecular signaturemorphogenetic processmouse modelmultiomicsmultiple omicsmurine modelmusculoskeletal disorderneglectnoncodingnovelorgan developmentorgan growthpanomicsprogramsresolutionsscATAC sequencingscATAC-seqscRNA sequencingscRNA-seqsingle cell ATAC-seqsingle cell ATAC-sequencingsingle cell Assay for Transposase Accessible Chromatin sequencingsingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell sequencing assay for transposase accessible chromatinsingle cell transcriptomic profilingsingle-cell Assay for Transposase-Accessible Chromatin with sequencingsingle-cell RNA sequencingsingle-cell assay for transposase-accessible chromatin using sequencingsingle-cell assay for transposase-accessible chromatin-seqskeletalskeletal diseaseskeletal disorderskeletal structureskeletonsspatial RNA sequencingspatial gene expression analysisspatial gene expression profilingspatial resolved transcriptome sequencingspatial transcriptome analysisspatial transcriptome profilingspatial transcriptome sequencingspatial transcriptomicsspatially resolved transcriptomicsspatio transcriptomicsspine bone structuresuccesstooltranscriptometranscriptomicswhole genome association analysiswhole genome association study
Description preview
Project Summary/Abstract
There exists a major gap in our knowledge on what genes and regulatory regions control the differences in
skeletal morphology between humans, and our best studied model system, the mouse. This is despite the human
skeletons’ importance to walking/running, tool use, and childbirth, and that congenital, trauma-induced, and…
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