Luis R Saraiva, PhD
he/him/his
Associate Professor AdjunctDownloadHi-Res Photo
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Comparative Medicine
Primary
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Comparative Medicine
310 Cedar St New Haven
New Haven, CT 06520
United States
About
Titles
Associate Professor Adjunct
Biography
In 2004, he concluded his integrated B.Sc. and M.Sc. degree in Biology at the University of Evora and the Gulbenkian Institute of Science in Portugal. He advanced to a Ph.D. in in Genetics at the International Graduate School in Genetics and Functional Genomics of the University of Cologne (Germany), graduating summa cum laude in 2008. Next, his academic journey took him to Harvard Medical School as a visiting scientist, funded by the Boehringer Ingelheim Fonds, followed by his first postdoctoral appointment at the Fred Hutchinson Cancer Research Center (USA). In 2013, he received the EBI–Sanger Postdoctoral (ESPOD) Fellowship, which led him to continue his postdoctoral training at the EMBL-European Bioinformatics Institute and the Wellcome Sanger Institute in Cambridge (UK), where he also earned a Sanger Early Career Innovation Award.
In 2015, he joined Sidra Medicine (Qatar), where he is currently base, leading the Human Disease Modeling and Therapeutics Laboratory and the Congenital Malformations Clinical Research Program. He served as Adjunct Faculty at the Monell Chemical Senses Center (USA) from 2016-2023, has been a Joint Professor at Hamad bin Khalifa University (Qatar) since 2018, and an Associate Professor Adjunct at Yale University (USA) since 2024. His lab specializes in developing biological assays to explore the molecular bases of rare genetic diseases, aiming to push the boundaries of basic science and turn research into groundbreaking diagnostics and personalized therapies for neurological, kidney, and heart diseases.
Appointments
Comparative Medicine
Associate Professor AdjunctPrimary
Other Departments & Organizations
Education & Training
- MBA
- Oxford Brookes University, Oxford Brookes Business School (2025)
- EBI–Sanger Postdoctoral (ESPOD) Fellow
- European Bioinformatics Institute (EMBL-EBI) + Wellcome Sanger Institute (WSI) (2015)
- Postdoctoral Associate
- Fred Hutch Cancer Center (2013)
- Visiting Scientist
- Harvard Medical School (2008)
- PhD
- University of Cologne, Genetics (2008)
- MSc
- University of Evora, Biology (2004)
Research
Overview
Medical Research Interests
Cardiomyopathies; Disease Models, Animal; Drug Repositioning; Genetics, Medical; Genomic Medicine; Nephrology; Neurology; Obesity; Olfaction Disorders; Translational Research, Biomedical
ORCID
0000-0003-4079-0396
Research at a Glance
Publications Timeline
A big-picture view of Luis R Saraiva's research output by year.
Research Interests
Research topics Luis R Saraiva is interested in exploring.
48Publications
3,944Citations
Olfaction Disorders
Obesity
Publications
Featured Publications
Short-term consumption of highly processed diets varying in macronutrient content impair the sense of smell and brain metabolism in mice
Makhlouf M, Souza D, Kurian S, Bellaver B, Ellis H, Kuboki A, Al-Naama A, Hasnah R, Venturin G, da Costa J, Venugopal N, Manoel D, Mennella J, Reisert J, Tordoff M, Zimmer E, Saraiva L. Short-term consumption of highly processed diets varying in macronutrient content impair the sense of smell and brain metabolism in mice. Molecular Metabolism 2023, 79: 101837. PMID: 37977411, PMCID: PMC10724696, DOI: 10.1016/j.molmet.2023.101837.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsMacronutrient contentIncrease food safetyGrain-based dietShort-term consumptionElectro-olfactogramFood safetyProcessed dietsFood processingBrain regionsBrain metabolismOdor-guided behaviorStandard chow dietShort-term intakeDietGlucose metabolism imagingHigh-fat dietFoodResponses to odorantsBrain glucose metabolismOlfactory mucosaModern dietFood consumptionChow dietChronic consumptionMetabolic phenotypeIdentifying candidate genes underlying isolated congenital anosmia
Kamarck M, Trimmer C, Murphy N, Gregory K, Manoel D, Logan D, Saraiva L, Mainland J. Identifying candidate genes underlying isolated congenital anosmia. Clinical Genetics 2023, 105: 376-385. PMID: 38148624, PMCID: PMC10932857, DOI: 10.1111/cge.14470.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsIsolated congenital anosmiaWhole-exome sequencingCongenital anosmiaGene candidate listsLoss-of-function variantsSpectrum of genetic alterationsOlfactory transduction pathwayZinc ion bindingDeleterious variantsExome sequencingTransduction pathwaysGenetic alterationsOlfactory signalsNon-syndromicOlfactory functionAssociated with olfactionQuality of lifeGenesAnosmiaIon bindingEstimated 1VariantsOlfactionFamilyCNGA2Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry
Okashah S, Vasudeva D, Jerbi A, Khodjet-El-khil H, Al-Shafai M, Syed N, Kambouris M, Udassi S, Saraiva L, Al-Saloos H, Udassi J, Al-Shafai K. Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry. Genes 2022, 13: 1369. PMID: 36011280, PMCID: PMC9407366, DOI: 10.3390/genes13081369.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCongenital heart diseaseWhole-exome sequencingGenetic etiology of congenital heart diseaseAmerican College of Medical GeneticsPotential genetic variantsPotential causative variantsPathogenesis of congenital heart diseaseChromosomal abnormalitiesCardiac RegistryEtiology of congenital heart diseaseResults of genetic testingDevelopment of congenital heart diseaseCausative variantsHeart diseaseIdentified variantsMedical geneticsExome sequencingExome analysisGenetic variantsGenetic causeGenetic etiologyCHD phenotypesFunctional studiesGenetic defectsPotential variantsA 3D transcriptomics atlas of the mouse nose sheds light on the anatomical logic of smell
Ruiz Tejada Segura M, Abou Moussa E, Garabello E, Nakahara T, Makhlouf M, Mathew L, Wang L, Valle F, Huang S, Mainland J, Caselle M, Osella M, Lorenz S, Reisert J, Logan D, Malnic B, Scialdone A, Saraiva L. A 3D transcriptomics atlas of the mouse nose sheds light on the anatomical logic of smell. Cell Reports 2022, 38: 110547. PMID: 35320714, PMCID: PMC8995392, DOI: 10.1016/j.celrep.2022.110547.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsClinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus
Selvaraj S, Rodrigues D, Krishnamoorthy N, Fakhro K, Saraiva L, Lemos M. Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. Journal Of Personalized Medicine 2022, 12: 118. PMID: 35055433, PMCID: PMC8779739, DOI: 10.3390/jpm12010118.Peer-Reviewed Original ResearchCitationsAltmetricConceptsNephrogenic diabetes insipidusX-linked recessive nephrogenic diabetes insipidusRecessive nephrogenic diabetes insipidusMissense mutationsAquaporin-2Diabetes insipidusIn silico protein modelingCongenital nephrogenic diabetes insipidusArginine vasopressin receptor 2Plasma membrane localizationVolumes of dilute urineAverage urinary outputAVPR2</i> geneDownstream intracellular signaling pathwaysHeterozygous missense mutationX-linked recessive inheritanceVasopressin receptor 2Intracellular signaling pathwaysHuman cellular modelsResponse to water deprivationX chromosomePhenotypic effectsGenetic analysisTransmembrane domainMembrane localizationCongenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
Kubo S, Fritz J, Raquer-McKay H, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman A, Jing X, Farley T, Park A, Oler A, Charles A, Makhlouf M, AbouMoussa E, Hasnah R, Saraiva L, Ganesan S, Al-Subaiey A, Matthews H, Flano E, Lee H, Freeman A, Sefer A, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo M. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease. Nature Immunology 2021, 23: 75-85. PMID: 34937930, PMCID: PMC11060421, DOI: 10.1038/s41590-021-01093-y.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsMeSH KeywordsA549 CellsADAM17 ProteinAnimalsCarrier ProteinsChildChild, PreschoolCitrobacter rodentiumColitisCytokinesEnterobacteriaceae InfectionsFemaleHEK293 CellsHumansInfant, NewbornMacrophagesMaleMiceMice, Inbred C57BLMutationPrimary Immunodeficiency DiseasesPseudomonas aeruginosaPseudomonas InfectionsSignal TransductionConceptsIRhom2 deficiencyLoss-of-function mutationsLocal microbial environmentLoss of iRhom2Diverse clinical phenotypesRecurrent respiratory infectionsWild-type miceRelease of cytokinesTumor necrosis factorHemorrhagic colitisCitrobacter rodentiumADAM17 metalloproteinaseFecal microbiotaSuperfamily membersRecurrent infectionsRecurrent pneumoniaTumor necrosisLung involvementColonic involvementHuman immunodeficiencyInflammatory colitisMicrobial environmentOral speciesPseudomonas aeruginosaColitis patientsInherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents
Lévy R, Langlais D, Béziat V, Rapaport F, Rao G, Lazarov T, Bourgey M, Zhou Y, Briand C, Moriya K, Ailal F, Avery D, Markle J, Lim A, Ogishi M, Yang R, Pelham S, Emam M, Migaud M, Deswarte C, Habib T, Saraiva L, Moussa E, Guennoun A, Boisson B, Belkaya S, Martinez-Barricarte R, Rosain J, Belkadi A, Breton S, Payne K, Benhsaien I, Plebani A, Lougaris V, Di Santo J, Neven B, Abel L, S. C, Bousfiha A, Marr N, Bustamante J, Liu K, Gros P, Geissmann F, Tangye S, Casanova J, Puel A. Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents. Journal Of Clinical Investigation 2021, 131: e150143. PMID: 34623332, PMCID: PMC8409595, DOI: 10.1172/jci150143.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCD4+ T cellsMemory CD4+ T cellsC-Rel deficiencyT cellsMyeloid cellsLymphoid cellsB cellsC-RelMultiple infectious agentsNaive CD4+ T cellsCD8+ T cellsAntigen-presenting cell functionConventional DC1sFrequency of NKMemory B cellsNaive T cellsNaive B cellsFunctional deficitsReduced IL-2 productionProduction of Th1Infectious agentsIL-23 productionIL-2 productionInduction of CD86 expressionB cell survivalDeconstructing the mouse olfactory percept through an ethological atlas
Manoel D, Makhlouf M, Arayata C, Sathappan A, Da'as S, Abdelrahman D, Selvaraj S, Hasnah R, Mainland J, Gerkin R, Saraiva L. Deconstructing the mouse olfactory percept through an ethological atlas. Current Biology 2021, 31: 2809-2818.e3. PMID: 33957076, PMCID: PMC8282700, DOI: 10.1016/j.cub.2021.04.020.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsOlfactory perceptionMouse behaviorStudy of olfactory perceptionOdor perceptionBehavioral responsesPhysicochemical properties of odorantsHuman odor perceptionProperties of odorantsOdor identityOlfactory behaviorTarget odorOdorOdor concentrationPerceptionMiceBehaviorNon-humanResponseMultiple concentrationsDifferential regulation of the immune system in a brain-liver-fats organ network during short-term fasting
Huang S, Makhlouf M, AbouMoussa E, Segura M, Mathew L, Wang K, Leung M, Chaussabel D, Logan D, Scialdone A, Garand M, Saraiva L. Differential regulation of the immune system in a brain-liver-fats organ network during short-term fasting. Molecular Metabolism 2020, 40: 101038. PMID: 32526449, PMCID: PMC7339127, DOI: 10.1016/j.molmet.2020.101038.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsShort-term fastingGene Ontology enrichment analysisOntology enrichment analysisReactome pathway analysisInnate immune signalingCombination of multivariate analysisImmune systemPriming of adaptive immunityChronic immunological disordersTranscriptional dynamicsGene setsGene OntologyWhite adipose tissueAdipose tissueProtein dataRNA sequencingBrown adipose tissueExpression analysisEnrichment analysisImmune signalingProfiles of miceDifferential regulationBiological pathwaysPathway analysisMolecular mechanismsA transcriptomic atlas of mammalian olfactory mucosae reveals an evolutionary influence on food odor detection in humans
Saraiva L, Riveros-McKay F, Mezzavilla M, Abou-Moussa E, Arayata C, Makhlouf M, Trimmer C, Ibarra-Soria X, Khan M, Van Gerven L, Jorissen M, Gibbs M, O'Flynn C, McGrane S, Mombaerts P, Marioni J, Mainland J, Logan D. A transcriptomic atlas of mammalian olfactory mucosae reveals an evolutionary influence on food odor detection in humans. Science Advances 2019, 5: eaax0396. PMID: 31392275, PMCID: PMC6669018, DOI: 10.1126/sciadv.aax0396.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsOlfactory sensory neuronsChemosensory receptor gene familiesSpecies-specific adaptationsOlfactory sensory neurons subtypesCanonical olfactory receptorsReceptor gene familyOlfactory mucosa samplesMammalian olfactory mucosaGene familyEcological nichesMammalian evolutionTranscriptomic atlasAnalyzed speciesEvolutionary dynamicsRNA sequencingMammalian olfactory systemEvolutionary influencesOlfactory mucosaHomologous subtypesSensory neuronsOlfactory receptorsMucosa samplesOlfactory systemSubtypesMammalian olfaction
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Comparative Medicine
310 Cedar St New Haven
New Haven, CT 06520
United States