Jeff Jiapeng Ruan, PhD
Associate Research Scientist in Medicine (Digestive Diseases)Cards
About
Research
Publications
2025
Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies
Fattahi N, Ruan J, Belinsky G, Xing S, Mistry P, Nair S. Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies. International Journal Of Molecular Sciences 2025, 26: 11915. PMID: 41465340, PMCID: PMC12733336, DOI: 10.3390/ijms262411915.Peer-Reviewed Original ResearchMouse modelGaucher diseaseMouse model of Gaucher diseaseMouse model developmentContribution of macrophagesBiallelic pathogenic variantsLineage-specific modelsClinically meaningful endpointsGD mouse modelPatient-derived mutationsModel of Gaucher diseaseSubtypes of GDImmune dysregulationTherapeutic responseMulti-omics integrationB cellsPathogenic variantsTherapeutic strategiesPerinatal lethalityLysosomal disorderClinical translationImmune architectureBiomarker developmentGene editing platformMultisystem conditionPrecision genomic profiling in Gaucher disease: insights from atypical presentations
Saith A, Ain N, Ruan J, Kasaiyan M, Jain D, Israel G, Mehta S, Bamford N, Nair S, Mistry P. Precision genomic profiling in Gaucher disease: insights from atypical presentations. Frontiers In Genetics 2025, 16: 1553036. PMID: 41282474, PMCID: PMC12634035, DOI: 10.3389/fgene.2025.1553036.Peer-Reviewed Original ResearchWhole-exome sequencingEpigenetic modifiersAutosomal dominant polycystic kidney diseaseGenetic disordersGD patientsPathological accumulationGaucher diseaseSingle-gene disordersChronic metabolic inflammationGenome integrityComplex phenotypesAccumulation of glucosylceramidePrecision medicine strategiesHereditary cancer predispositionModel of precision medicineCohort of GD patientsCancer predispositionBiological pathwaysTertiary care centerDominant polycystic kidney diseaseFamilial Mediterranean feverIndividualized therapeutic approachPhenotypic heterogeneityGenetic diagnosisGenomic profilingSynaptic vesicle endocytosis deficits underlie cognitive dysfunction in mouse models of GBA-linked Parkinson’s disease and dementia with Lewy bodies
Vidyadhara D, Bäckström D, Chakraborty R, Ruan J, Park J, Mistry P, Chandra S. Synaptic vesicle endocytosis deficits underlie cognitive dysfunction in mouse models of GBA-linked Parkinson’s disease and dementia with Lewy bodies. Nature Communications 2025, 16: 8484. PMID: 41006254, PMCID: PMC12475166, DOI: 10.1038/s41467-025-63444-9.Peer-Reviewed Original ResearchConceptsCognitive declineCognitive deficitsMotor deficitsParkinson's diseaseExcitatory neuronsMutant miceMouse modelSynaptic vesiclesAge-related motor deficitsCognitive abnormalitiesLayer 5 neuronsCognitive dysfunctionSingle-nucleus RNA sequencingDouble mutant miceDeficitsDownregulation of genesSV endocytosisSV cycleSynapse assemblyRisk genesTg micePathway defectsRNA sequencingGBA mutationsLewy bodiesModeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion
Belinsky G, Ruan J, Fattahi N, Mehta S, Boddupalli C, Mistry P, Nair S. Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion. Human Molecular Genetics 2025, 34: 952-966. PMID: 40197748, PMCID: PMC12085781, DOI: 10.1093/hmg/ddaf045.Peer-Reviewed Original ResearchGD miceImmune dysregulationGaucher diseaseExpansion of monocytesImmune cell deconvolutionKnockout modelsBone marrow microenvironmentGlucocerebrosidase activityC57BL/6 J backgroundDeficient glucocerebrosidase activityGaucher cell infiltrationInfluence disease severityGD biomarkersGD pathologyGD pathophysiologyLysosomal storage disorderImmune landscapeDendritic cellsHematopoietic stemMarrow microenvironmentAccumulation of glucosylceramideVav-CreBone marrowCell infiltrationHematopoietic cellsInvestigating the genomic basis of phenotypic diversity among siblings in Gaucher disease
Ain N, Kulkarni N, Ruan J, Ruan A, Nair S, Mehta S, Mistry P. Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease. Molecular Genetics And Metabolism 2025, 144: 108633. DOI: 10.1016/j.ymgme.2024.108633.Peer-Reviewed Original Research
2024
Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes
Saith A, Kasaiyan M, Ruan J, Basiri M, Mistry P. Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes. Molecular Genetics And Metabolism 2024, 141: 108026. DOI: 10.1016/j.ymgme.2023.108026.Peer-Reviewed Original Research
2023
Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center
Basiri M, Ghaffari M, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry P. Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center. ELife 2023, 12: e87537. PMID: 37249220, PMCID: PMC10317498, DOI: 10.7554/elife.87537.Peer-Reviewed Original ResearchConceptsEnzyme replacement therapySubstrate reduction therapyAvascular osteonecrosisTertiary referral centerGaucher diseaseReferral centerTreatment initiationGD patientsImiglucerase enzyme replacement therapyResidual disease activityAnti-drug antibodiesYears of treatmentType of therapyRare inborn errorMixed-effects logistic modelGD1 patientsSpleen statusDisease activityClinical outcomesRisk stratificationReplacement therapyIndependent correlatesMultiple therapiesReduction therapyHigh riskSevere pulmonary arterial hypertension in Gaucher disease type 1
Basiri M, Ruan J, Nair S, Guo L, Mistry P. Severe pulmonary arterial hypertension in Gaucher disease type 1. Molecular Genetics And Metabolism 2023, 138: 107021. DOI: 10.1016/j.ymgme.2022.107021.Peer-Reviewed Original ResearchThe risk of hepatocellular carcinoma is markedly increased in Gaucher disease
Basiri M, Ruan J, Nair S, Lau H, Mistry P, Taddei T. The risk of hepatocellular carcinoma is markedly increased in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107022. DOI: 10.1016/j.ymgme.2022.107022.Peer-Reviewed Original ResearchSingle cell resolution of neurodegeneration in Gaucher disease
Nair S, Belinsky G, Ruan J, Basiri M, Klinger K, Mistry P. Single cell resolution of neurodegeneration in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107233. DOI: 10.1016/j.ymgme.2022.107233.Peer-Reviewed Original Research
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Mailing Address
Yale School of Medicine
Department of Medicine (Digestive Diseases), PO Box 208019
New Haven, CT 06520-8019
United States