Silvia Vilarinho, MD, PhD
Associate Professor of Medicine (Digestive Diseases) and of PathologyDownloadHi-Res Photo
Cards
Additional Titles
Associate Director, Yale MD-PhD Program
Director, Internal Medicine Physician Scientist Training Program
Contact Info
Yale School of Medicine
Department of Medicine (Digestive Diseases), P.O. Box 208019
New Haven, CT 06520-8019
United States
About
Copy Link
Titles
Associate Professor of Medicine (Digestive Diseases) and of Pathology
Associate Director, Yale MD-PhD Program; Director, Internal Medicine Physician Scientist Training Program
Biography
Silvia Vilarinho is a physician-scientist who uses genetics, genomics and human samples to investigate the molecular basis of various liver diseases of unknown etiology. Using these approaches, we have identified five novel genetic liver diseases. Our research goal is to continue to discover new genes important in liver function both in health and disease and to use cell biology and animal models to determine the specific mechanism(s) linking mutant gene to disease as a roadmap to further understand and treat rare and common liver diseases.
This research approach provides new knowledge with direct impact in improving patient care and creates an outstanding scientific environment to train future physician-scientists and trainees with particular interest in human disease. Furthermore, I am very committed to make ‘genomic medicine for liver disease’ a reality in clinical practice worldwide.
Last Updated on July 04, 2023.
Appointments
Pathology
Associate Professor on TermSecondary
Other Departments & Organizations
- ABIM Physician-Scientist Research Pathway
- Internal Medicine
- Janeway Society
- Liver Center
- MD-PhD Program
- Molecular Medicine, Pharmacology, and Physiology
- Pathology
- Pathology Research
- Vilarinho Lab
- Yale Center for Genomic Health
- Yale Combined Program in the Biological and Biomedical Sciences (BBS)
- Yale New Haven Health System
Education & Training
- Fellowship
- Yale University (2015)
- Residency
- Yale University (2011)
- Internship
- University of Minnesota (2010)
- PhD
- University of Porto, Portugal (2008)
- MD
- University of Porto (2004)
Research
Copy Link
Overview
Medical Research Interests
Consanguinity; Genetic Variation; Genotype; Liver; Liver Diseases; Phenotype
ORCID
0000-0002-2099-4212- View Lab Website
Vilarinho Lab
Research at a Glance
Yale Co-Authors
Frequent collaborators of Silvia Vilarinho's published research.
Publications Timeline
A big-picture view of Silvia Vilarinho's research output by year.
Research Interests
Research topics Silvia Vilarinho is interested in exploring.
Dhanpat Jain, MD, MBBS
Pramod Mistry, MBBS, PhD, MA, MD
Allen Bale, MD
Joseph Brancale, MD, PhD
Murat Günel, MD, FACS, FAHA, FAANS
Tamar Taddei, MD
38Publications
1,183Citations
Liver Diseases
Liver
Phenotype
Genetic Variation
Consanguinity
Genotype
Publications
2025
Challenges in the diagnosis and treatment of genetic cholestasis in adults
Thompson R, Vilarinho S, Miquel R, Keitel V. Challenges in the diagnosis and treatment of genetic cholestasis in adults. JHEP Reports 2025, 8: 101625. PMID: 41674895, PMCID: PMC12890451, DOI: 10.1016/j.jhepr.2025.101625.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsConceptsRetention of biliary constituentsBiliary constituentsBile duct injuryEnterohepatic circulationExtrahepatic bile ductGenetic variantsBile acidsBile duct epitheliumEnterohepatic circulation of bile acidsMultidisciplinary case discussionCirculation of bile acidsGenetic cholestasisClinical presentationDuct injuryDiagnostic workupPharmacological interruptionLiver histologyUrsodeoxycholic acidBile ductCholestasisDuct epitheliumGenetic testingCholangiopathyMedication intakeBile formationIdiopathic cholestasis in adults: Genetics as another lens for liver pathologists
Tamburro C, Mentzinger A, Jain D, Vilarinho S. Idiopathic cholestasis in adults: Genetics as another lens for liver pathologists. Human Pathology 2025, 165: 105916. PMID: 40854348, DOI: 10.1016/j.humpath.2025.105916.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsAltmetricConceptsChronic liver diseaseGenetic testingCholestatic liver diseaseLiver diseaseIdiopathic cholestasisGenomic medicineGenetic knowledgeGenetic diseasesGenetic liver diseasesMonogenic causeProportion of patientsClinical geneticistsLiver biopsy interpretationPatient careGlobal health problemAdult patientsHealth problemsPediatric presentationLiver pathologistsAdult populationBiopsy interpretationDiagnostic evaluationUndiagnosed casesPatientsDisease understandingInsulin resistance, metabolic dysfunction–associated steatotic liver disease, and advanced liver fibrosis in lean US adults: a population-based study
Njei B, Abdu M, Al-Ajlouni Y, Mohamed M, Deng Y, Osta E, Kanmounye U, Vilarinho S, Dranoff J, Lim J, Md, Echouffo Tcheugui J. Insulin resistance, metabolic dysfunction–associated steatotic liver disease, and advanced liver fibrosis in lean US adults: a population-based study. Baylor University Medical Center Proceedings 2025, 38: 637-645. PMID: 40821486, PMCID: PMC12351751, DOI: 10.1080/08998280.2025.2524199.Peer-Reviewed Original ResearchCitationsConceptsQuantitative insulin sensitivity check indexAdvanced liver fibrosisHomeostasis model assessmentHOMA-IRLiver fibrosisAge-adjusted prevalenceHOMA-BInsulin resistanceAssociated with advanced liver fibrosisLean adultsLiver diseaseLean individualsHigh riskSteatotic liver diseaseModel assessmentNational Health and Nutrition Examination SurveyHealth and Nutrition Examination SurveyHuman immunodeficiency virusAssociated with HOMA-IRUS National Health and Nutrition Examination SurveyInsulin sensitivity check indexB cell functionVisceral adiposity indexControlled attenuation parameterNutrition Examination SurveyGenome-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 effectsThe interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease
Vilarinho S. The interplay between germline and somatic variants in alpha-1 anti-trypsin deficiency liver disease. Nature Genetics 2025, 57: 775-776. PMID: 40169790, DOI: 10.1038/s41588-025-02151-z.Peer-Reviewed Original ResearchCitationsAltmetricTargeting Polymeric Nanoparticles to Specific Cell Populations in the Liver
Harkins L, Vilarinho S, Saltzman W. Targeting Polymeric Nanoparticles to Specific Cell Populations in the Liver. Biochemistry 2025, 64: 1685-1697. PMID: 40127248, PMCID: PMC12543053, DOI: 10.1021/acs.biochem.4c00712.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsMeSH Keywords and ConceptsConceptsLiver-resident macrophagesCell-specific targetingCell-specific deliveryAccumulation of nanoparticlesSpecific cell populationsDelivery of drugsConjugation of targeting ligandsTreatment of liver diseasesResident macrophagesKupffer cellsLiver diseaseNP administrationCell populationsConjugated nanoparticlesNP designDiseased liverSpecific deliveryCellular distributionTherapeutic carriersLiverSustained releaseNP characteristicsPolymer nanoparticlesCellsDelivery
2024
Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.
Sümer Coşar Ö, Öztürk H, Sarı S, Vilarinho S, Kayhan G, Eğritaş Gürkan Ö, Dalgıç B. Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases. Experimental And Clinical Transplantation 2024, 22: 100-105. PMID: 39498929, DOI: 10.6002/ect.pedsymp2024.o29.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsInborn errors of bile acid synthesisInborn errorsBile acid synthesisLiver diseasePeroxisome biogenesis disordersLiver failureLiver transplantation due to liver failureDehydrogenase deficiencyGenetic testingLiquid secondary ionization mass spectrometryUrsodeoxycholic acid treatmentProgressive liver diseaseIonization mass spectrometryCharacteristics of patientsCholic acid treatmentBile acid synthetic defectNeonatal cholestasisSecondary ionization mass spectrometryClinical findingsConsanguineous parentsNeurological symptomsEarly diagnosisCholic acidPatientsMalabsorption complicationsIntegrative 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 metabolismGenesGenetics of liver disease in adults
Konkwo C, Chowdhury S, Vilarinho S. Genetics of liver disease in adults. Hepatology Communications 2024, 8: e0408. PMID: 38551385, PMCID: PMC10984672, DOI: 10.1097/hc9.0000000000000408.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsCitationsAltmetricMeSH Keywords and ConceptsConceptsInterpretation of genetic variationNext-generation sequencing technologiesIncorporation of genomic informationSomatic genetic variantsGenomic informationSequencing technologiesHuman genomeLiver diseaseGenetic variationGenetic variantsImprove patient careMonogenic diseasesProtective allelesPersonalized medicinePatient careManagement of patientsChronic liver diseaseContribution of riskHealth problemsAnnual deathsGlobal health problemHepatology practiceGenomeEstimated 2AllelesAuthor Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway
Park A, Leney-Greene M, Lynberg M, Gabrielski J, Xu X, Schwarz B, Zheng L, Balasubramaniyam A, Ham H, Chao B, Zhang Y, Matthews H, Cui J, Yao Y, Kubo S, Chanchu J, Morawski A, Cook S, Jiang P, Ravell J, Cheng Y, George A, Faruqi A, Pagalilauan A, Bergerson J, Ganesan S, Chauvin S, Aluri J, Edwards-Hicks J, Bohrnsen E, Tippett C, Omar H, Xu L, Butcher G, Pascall J, Karakoc-Aydiner E, Kiykim A, Maecker H, Tezcan İ, Esenboga S, Heredia R, Akata D, Tekin S, Kara A, Kuloglu Z, Unal E, Kendirli T, Dogu F, Karabiber E, Atkinson T, Cochet C, Filhol O, Bosio C, Davis M, Lifton R, Pearce E, Daumke O, Aytekin C, Şahin G, Aksu A, Uzel G, Koneti Rao V, Sari S, Dalgıç B, Boztug K, Cagdas D, Haskologlu S, Ikinciogullari A, Schwefel D, Vilarinho S, Baris S, Ozen A, Su H, Lenardo M. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway. Nature Immunology 2024, 25: 717-717. PMID: 38347083, DOI: 10.1038/s41590-024-01779-z.Commentaries, Editorials and Letters
Academic Achievements & Community Involvement
Copy Link
Activities
activity American Association for the Study of Liver Disease (AASLD)
2021 - PresentPeer Review Groups and Grant Study SectionsMemberDetailsAASLD Research Awards Committeeactivity American Association for the Study of Liver Disease (AASLD)
2021 - PresentPeer Review Groups and Grant Study SectionsMemberDetailsAASLD Basic Research Committee
Honors
honor 2023 Leah Lowenstein Award
05/22/2023Yale School of Medicine AwardDetailsUnited Stateshonor Young Physician-Scientist Award
02/11/2022National AwardAmerican Society for Clinical InvestigationDetailsUnited Stateshonor Inaugural John N. Forrest, Jr. Prize for Mentorship in Student Research
05/20/2021Yale School of Medicine AwardDetailsUnited Stateshonor Doris Duke Clinical Scientist Award
07/01/2019National AwardDoris Duke Charitable FoundationDetailsUnited Stateshonor AASLD Sheila Sherlock Clinical and Translational Research Award
07/01/2015National AwardAASLD FoundationDetailsUnited States
News & Links
Copy Link
News
- March 21, 2025
Match Day 2025: Yale Internal Medicine Welcomes Incoming Residents
- March 15, 2024
Announcing the Incoming Residents in the Internal Medicine Traditional Residency Program!
- June 27, 2023
Drs. Silvia Vilarinho, Andrew Wang Named Physician Scientist Training Program Leadership
- May 30, 2023
Drs. Silvia Vilarinho and Stephen Wang Win Commencement Awards
Related Links
Get In Touch
Copy Link
Contacts
Mailing Address
Yale School of Medicine
Department of Medicine (Digestive Diseases), P.O. Box 208019
New Haven, CT 06520-8019
United States