Joseph Brancale
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Biography
Joseph Brancale is an MD-PhD candidate in the lab of Dr. Silvia Vilarinho at Yale School of Medicine whose research focuses on uncovering the mechanisms that drive rare and complex liver diseases. His work integrates in silico genomic discovery and single-cell approaches, in vitro systems such as iPSCs and organoids, and in vivo mouse modeling to connect genetic findings with functional biology. By combining computational analysis with experimental validation, he seeks to define how cellular pathways become disrupted in disease and to establish frameworks that can guide both diagnosis and therapeutic development.
Last Updated on September 23, 2025.
Education & Training
- AB
- Harvard University, Organismic and Evolutionary Biology (2013)
Research
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Overview
Medical Research Interests
Cholestasis, Intrahepatic; Genetics; Hypertension, Portal; Liver Diseases; Non-alcoholic Fatty Liver Disease; Obesity; Single-Cell Analysis
ORCID
0000-0002-1948-5103- View Lab Website
Vilarinho Laboratory
Research at a Glance
Yale Co-Authors
Frequent collaborators of Joseph Brancale's published research.
Publications Timeline
A big-picture view of Joseph Brancale's research output by year.
Research Interests
Research topics Joseph Brancale is interested in exploring.
Silvia Vilarinho, MD, PhD
Dhanpat Jain, MD, MBBS
Yasuko Iwakiri, PhD
11Publications
1,288Citations
Single-Cell Analysis
Non-alcoholic Fatty Liver Disease
Hypertension, Portal
Obesity
Publications
2025
Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development
Ghouse J, Gellert-Kristensen H, O’Rourke C, Seidelin A, Thorleifsson G, Sveinbjörnsson G, Tragante V, Konkwo C, Brancale J, Vilarinho S, Eyrich T, Ahlberg G, Bundgaard J, Rand S, Lundegaard P, Sørensen E, Mikkelsen C, Træholt J, Erikstrup C, Dinh K, Bruun M, Jensen B, Bay J, Brunak S, Banasik K, Ullum H, Consortium E, Laisk T, Mägi R, Nadauld L, Knowlton K, Knight S, Gluud L, Vistisen K, Björnsson E, Ulfarsson M, Sulem P, Holm H, Pedersen O, Ostrowski S, Gudbjartsson D, Rafnar T, Stefansson K, Lassen U, Pommergaard H, Hillingsø J, Andersen J, Bundgaard H, Stender S. Genome-wide meta-analysis identifies nine loci associated with higher risk of hepatocellular carcinoma development. JHEP Reports 2025, 7: 101485. PMID: 40823170, PMCID: PMC12355075, DOI: 10.1016/j.jhepr.2025.101485.Peer-Reviewed Original ResearchCitationsAltmetricConceptsGenome-wide association studiesAssociated with higher riskGenome-wide statistical significanceIncident hepatocellular carcinomaMendelian randomization analysisGenome-Wide Meta-AnalysisIdentified variantsPer-allele effectsMeta-analysisMendelian randomizationGenetic risk lociPrevalent obesityRandomization analysisAlcohol intakeMeta-analysesRisk lociAssociation studiesRisk factorsGenetic variantsGenetic underpinningsRisk of hepatocellular carcinomaLociGenetic effectsCohortConcordant effects
2024
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
Ghouse J, Sveinbjörnsson G, Vujkovic M, Seidelin A, Gellert-Kristensen H, Ahlberg G, Tragante V, Rand S, Brancale J, Vilarinho S, Lundegaard P, Sørensen E, Erikstrup C, Bruun M, Jensen B, Brunak S, Banasik K, Ullum H, Verweij N, Lotta L, Baras A, Mirshahi T, Carey D, Kaplan D, Lynch J, Morgan T, Schwantes-An T, Dochtermann D, Pyarajan S, Tsao P, Laisk T, Mägi R, Kozlitina J, Tybjærg-Hansen A, Jones D, Knowlton K, Nadauld L, Ferkingstad E, Björnsson E, Ulfarsson M, Sturluson Á, Sulem P, Pedersen O, Ostrowski S, Gudbjartsson D, Stefansson K, Olesen M, Chang K, Holm H, Bundgaard H, Stender S. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis. Nature Genetics 2024, 56: 827-837. PMID: 38632349, PMCID: PMC11096111, DOI: 10.1038/s41588-024-01720-y.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsMeSH KeywordsAlanine TransaminaseCarcinoma, HepatocellularCase-Control StudiesCohort StudiesFemalegamma-GlutamyltransferaseGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansLipaseLiver CirrhosisLiver NeoplasmsMaleMembrane ProteinsMultifactorial InheritancePolymorphism, Single NucleotideRisk FactorsConceptsMulti-ancestry genome-wide association studyPolygenic risk scoresRare variant analysisVariant analysisGenome-wide association studiesRare Coding VariantsHepatocellular carcinomaLow alanine aminotransferaseRisk associationAlcohol intakePrioritized genesGenetic architectureNear genesAlanine aminotransferaseRisk scoreHepatic lipid metabolismAssociation studiesLiver cirrhosisGenetic underpinningsPNPLA3 p.Cirrhosis to hepatocellular carcinomaRisk of cirrhosisLiver function testsLipid metabolismGenes
2023
Protocol for enrichment, purification, and cytocentrifugation of mouse liver endothelial cells
Chowdhury S, Fried K, Iwakiri Y, Brancale J, Vilarinho S. Protocol for enrichment, purification, and cytocentrifugation of mouse liver endothelial cells. STAR Protocols 2023, 4: 102480. PMID: 37515764, PMCID: PMC10400957, DOI: 10.1016/j.xpro.2023.102480.Peer-Reviewed Original ResearchCitations
2022
Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency
Korol C, Belkaya S, Alsohime F, Lorenzo L, Boisson-Dupuis S, Brancale J, Neehus A, Vilarinho S, Zobaida A, Halwani R, Al-Muhsen S, Casanova J, Jouanguy E. Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency. Journal Of Clinical Immunology 2022, 43: 406-420. PMID: 36308662, PMCID: PMC9892130, DOI: 10.1007/s10875-022-01376-5.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsEarly onset inflammatory bowel diseaseFulminant viral hepatitisHepatitis A virusIL-10IL-22IL-26Viral hepatitisIFN-λ1Inflammatory bowel diseaseIFN-γ productionIFN-γ activityLife-threatening diseaseImpairs cellular responsesHAV infectionBowel diseaseLymphocyte cytotoxicityIL-18BPIFN-λsDisease-causing variantsHealthy individualsPatientsA virusCellular responsesUnrelated patientsPotent antagonistA multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation
Vujkovic M, Ramdas S, Lorenz KM, Guo X, Darlay R, Cordell HJ, He J, Gindin Y, Chung C, Myers RP, Schneider CV, Park J, Lee KM, Serper M, Carr RM, Kaplan DE, Haas ME, MacLean MT, Witschey WR, Zhu X, Tcheandjieu C, Kember RL, Kranzler HR, Verma A, Giri A, Klarin DM, Sun YV, Huang J, Huffman JE, Creasy KT, Hand NJ, Liu CT, Long MT, Yao J, Budoff M, Tan J, Li X, Lin HJ, Chen YI, Taylor KD, Chang RK, Krauss RM, Vilarinho S, Brancale J, Nielsen JB, Locke AE, Jones MB, Verweij N, Baras A, Reddy KR, Neuschwander-Tetri BA, Schwimmer JB, Sanyal AJ, Chalasani N, Ryan KA, Mitchell BD, Gill D, Wells AD, Manduchi E, Saiman Y, Mahmud N, Miller DR, Reaven PD, Phillips LS, Muralidhar S, DuVall SL, Lee JS, Assimes TL, Pyarajan S, Cho K, Edwards TL, Damrauer SM, Wilson PW, Gaziano JM, O’Donnell C, Khera AV, Grant SFA, Brown CD, Tsao PS, Saleheen D, Lotta LA, Bastarache L, Anstee QM, Daly AK, Meigs JB, Rotter JI, Lynch JA, Rader D, Voight B, Chang K. A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. Nature Genetics 2022, 54: 761-771. PMID: 35654975, PMCID: PMC10024253, DOI: 10.1038/s41588-022-01078-z.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsGenome-wide association studiesSingle nucleotide polymorphismsAssociation studiesMillion Veteran ProgramGenome-wide significanceGenetic architectureAdditional lociPleiotropy analysisInflammatory traitsLociNew insightsVeteran ProgramChronic ALT elevationTraitsExternal replicationRadiological validationReplication
2021
Genetic Variation in the Mitochondrial Glycerol‐3‐Phosphate Acyltransferase Is Associated With Liver Injury
Hakim A, Moll M, Brancale J, Liu J, Lasky‐Su J, Silverman EK, Vilarinho S, Jiang ZG, Pita‐Juárez Y, Vlachos IS, Zhang X, Åberg F, Afdhal NH, Hobbs BD, Cho MH. Genetic Variation in the Mitochondrial Glycerol‐3‐Phosphate Acyltransferase Is Associated With Liver Injury. Hepatology 2021, 74: 3394-3408. PMID: 34216018, PMCID: PMC8639615, DOI: 10.1002/hep.32038.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsAlcohol-associated liver diseaseChronic liver diseaseLiver diseaseLiver injuryAlanine aminotransferaseAspartate aminotransferaseElevated body mass indexLevels of ALTDose-dependent riskFatty liver diseaseBody mass indexAlkaline phosphataseMass General Brigham BiobankWeekly alcohol consumptionGenetic variantsMitochondrial glycerol-3-phosphate acyltransferaseLiver biochemistryHDL cholesterolLDL cholesterolTotal cholesterolMass indexRevision codesVLDL productionGlycerol-3-phosphate acyltransferaseTotal bilirubinA single cell gene expression atlas of 28 human livers
Brancale J, Vilarinho S. A single cell gene expression atlas of 28 human livers. Journal Of Hepatology 2021, 75: 219-220. PMID: 34016468, PMCID: PMC8345231, DOI: 10.1016/j.jhep.2021.03.005.Peer-Reviewed Original ResearchCitationsAltmetricGIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension
Drzewiecki K, Choi J, Brancale J, Leney-Greene MA, Sari S, Dalgiç B, Aksu A, Şahin G, Ozen A, Baris S, Karakoc-Aydiner E, Jain D, Kleiner D, Schmalz M, Radhakrishnan K, Zhang J, Hoebe K, Su HC, Pereira JP, Lenardo MJ, Lifton RP, Vilarinho S. GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension. Journal Of Experimental Medicine 2021, 218: e20201745. PMID: 33956074, PMCID: PMC8105721, DOI: 10.1084/jem.20201745.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsLiver sinusoidal endothelial cellsPortal hypertensionEndothelial cell homeostasisHepatic endothelial cellsEndothelial cellsLiver diseaseUnexplained portal hypertensionGlobal health problemSinusoidal endothelial cellsCell homeostasisSingle-cell RNA-sequencing analysisHypertensionMouse modelHealth problemsMice resultsGimap5RNA sequence analysisMajor contributorCritical regulatorDiseaseCellsDamaging mutationsHomeostasisDecompensationMorbidity
2019
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood
Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, Aragam KG, Lander ES, Smith GD, Mason-Suares H, Fornage M, Lebo M, Timpson NJ, Kaplan LM, Kathiresan S. Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood. Cell 2019, 177: 587-596.e9. PMID: 31002795, PMCID: PMC6661115, DOI: 10.1016/j.cell.2019.03.028.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsSevere obesityLongitudinal birth cohortYears of ageUnhealthy lifestyle choicesMiddle-aged adultsGlobal health threatObesity trajectoriesClinical preventionBirth cohortObesityHealth threatPolygenic predictorsInherited susceptibilityLifestyle choicesEarly childhoodCommon variantsBirthAgeCommon DNA variantsPredictorsMinimal differencesSusceptibilityMechanistic assessmentDecileBirthweight
2017
Effect of Sofosbuvir-Based Hepatitis C Virus Therapy on Kidney Function in Patients with CKD
Sise ME, Backman E, Ortiz GA, Hundemer GL, Ufere NN, Chute DF, Brancale J, Xu D, Wisocky J, Lin MV, Kim AY, Thadhani R, Chung RT. Effect of Sofosbuvir-Based Hepatitis C Virus Therapy on Kidney Function in Patients with CKD. Clinical Journal Of The American Society Of Nephrology 2017, 12: 1615-1623. PMID: 28882857, PMCID: PMC5628711, DOI: 10.2215/cjn.02510317.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsSustained virologic responseAdverse eventsVirologic responseAntiviral therapyOverall sustained virologic responsePrior solid organ transplantHepatitis C virus (HCV) therapyEffect of sofosbuvirEfficacy of sofosbuvirHepatitis C cureRetrospective observational cohortC virus infectionSerious adverse eventsSolid organ transplantsC virus therapyCohort of patientsLarge health care systemPost-treatment followHepatitis C virusHealth care systemBaseline eGFRTreatment discontinuationObservational cohortKidney functionRegression models
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