Silvia Vilarinho, MD, PhD
Associate Professor of Medicine (Digestive Diseases) and of PathologyCards
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View Doctor ProfileAdditional 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
Are You a Patient?
View this doctor's clinical profile on the Yale Medicine website for information about the services we offer and making an appointment.
View Doctor ProfileAdditional 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
Are You a Patient?
View this doctor's clinical profile on the Yale Medicine website for information about the services we offer and making an appointment.
View Doctor ProfileAdditional 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
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.
Appointments
Digestive Diseases
Associate Professor on TermPrimaryGenetics
Associate Professor on TermSecondaryPathology
Associate Professor on TermSecondary
Other Departments & Organizations
- ABIM Physician-Scientist Research Pathway
- Digestive Diseases
- Genetics
- 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 Medicine
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
Overview
Medical Research Interests
ORCID
0000-0002-2099-4212- View Lab Website
Vilarinho Lab
Research at a Glance
Yale Co-Authors
Publications Timeline
Research Interests
Dhanpat Jain, MD
Pramod Mistry, MBBS, PhD, MA, MD
Murat Günel, MD, FACS, FAHA, FAANS
Tamar Taddei, MD
Allen Bale, MD
Joseph Brancale
Liver Diseases
Liver
Phenotype
Genetic Variation
Genotype
Publications
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 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 Original ResearchCitationsAltmetricMeSH 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.Peer-Reviewed Original ResearchAltmetricGIMAP5 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. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway. Nature Immunology 2024, 25: 282-293. PMID: 38172257, PMCID: PMC11151279, DOI: 10.1038/s41590-023-01691-y.Peer-Reviewed Original ResearchCitationsAltmetric
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 antagonist
2019
Exome Sequencing in Clinical Hepatology
Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.BooksCitationsAltmetricMeSH Keywords and ConceptsConceptsWhole-exome sequencingClinical diagnosisUtility of WESCare of patientsCongenital chloride diarrheaLiver clinicLiver diseaseClinical hepatologyDefinitive diagnosisNovel genetic disorderPediatric disordersClinical relevanceChloride diarrheaSalt-wasting diseaseExome sequencingDiagnosisGenetic disordersDiseaseDisordersPractice of medicineNumerous studiesDiarrheaPatientsHepatologyClinicReply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”
Hakim A, Mistry PK, Vilarinho S. Reply to: “Whole exome sequencing for personalized hepatology: Expanding applications in adults and challenges”. Journal Of Hepatology 2019, 71: 850-851. PMID: 31378425, DOI: 10.1016/j.jhep.2019.07.005.Peer-Reviewed Case Reports and Technical NotesCitationsClinical utility of genomic analysis in adults with idiopathic liver disease
Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. Journal Of Hepatology 2019, 70: 1214-1221. PMID: 31000363, PMCID: PMC6526061, DOI: 10.1016/j.jhep.2019.01.036.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsIdiopathic liver diseaseUnexplained liver diseaseManagement of adultsWhole-exome sequencingLiver diseaseAdult patientsUnknown etiologyHeterozygous variantsUse of WESAmelioration of dyslipidemiaDaily insulin requirementLeptin replacement therapyUtility of WESChronic liver diseaseNon-alcoholic steatohepatitisAcademic health care centerHealth care centersHomozygous pathogenic variantUnrelated adult patientsNon-oncological diseasesDisease preventive measuresInsulin requirementsLean patientsDevastating complicationLiver aminotransferasesRecessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
Aksu A, Das SK, Nelson‐Williams C, Jain D, Hoşnut F, Şahin G, Lifton RP, Vilarinho S. Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis. Hepatology Communications 2019, 3: 471-477. PMID: 30976738, PMCID: PMC6442693, DOI: 10.1002/hep4.1320.Peer-Reviewed Original ResearchCitationsAltmetricConceptsLiver diseaseHigh GGTUndiagnosed liver diseaseHomozygous mutationCholestatic liver diseaseUnmet medical needWhole-exome sequencingSame homozygous mutationPediatric hepatologyNeonatal cholestasisRare homozygous mutationUnclear etiologyCholestasisUndiagnosed childrenMedical needUnrelated childrenGermline DNADiseaseMember 12ChildrenConsanguineous unionsOlder siblingsMissense mutationsGGTDamaging mutationsMitoMatters Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L. MitoMatters Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction. Mitochondrion 2019, 47: 309-317. PMID: 30831263, DOI: 10.1016/j.mito.2019.02.006.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsMitochondrial diseaseWhole mitochondrial genomeNext-generation sequencing strategyMitochondrial genomePathogenic variantsCustom gene panelSequencing strategyMitochondrial dysfunctionMolecular analysisMutational landscapeNGS strategyNovel pathogenic variantsPhenotypic heterogeneityEffective therapeutic optionHigh diagnostic yieldGene panelMolecular diagnosisVariantsAdult patientsGenomeTherapeutic optionsUnknown significanceDiagnostic yield
Academic Achievements & Community Involvement
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
Clinical Care
Overview
Silvia Vilarinho, MD, is an internist who treats digestive and liver diseases. She is especially interested in integrating genetics into diagnosis and treatment. No matter how serious the ailment, she always seeks to reassure patients. “We will work together to find the best plan,” she tells them.
One of her most meaningful experiences was identifying a rare genetic disorder in a woman who had been misdiagnosed multiple times. After years of ineffective treatment, including multiple surgeries, Dr. Vilarinho was finally able to provide the patient with the proper diagnosis and therapy.
An assistant professor of medicine (digestive diseases) at Yale School of Medicine, Dr. Vilarinho’s research applies genetics and genomics to determine the molecular basis of liver diseases with no clear cause. She is most excited when uncovering something that has never been seen before. “It is my goal to merge my research and clinical skills to advance science and to benefit the patient,” she says.
Clinical Specialties
Fact Sheets
Lipodystrophy
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News
- March 21, 2025
Match Day 2025: Yale Internal Medicine Welcomes Incoming Residents
- March 15, 2024
Announcing the New Residents in the Yale-Waterbury Internal Medicine Residency Program!
- 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
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Get In Touch
Contacts
Yale School of Medicine
Department of Medicine (Digestive Diseases), P.O. Box 208019
New Haven, CT 06520-8019
United States