Luis R Saraiva, PhD
Research & Publications
Biography
Research Summary
Our laboratory develops and deploys biological assays to understand how specific genetic variants can cause the dysregulation of specific molecular mechanisms leading to disease. We also have a strong interest in the sense of smell, especially in the molecular mechanisms underlying odor-driven changes in behavior or physiology. We collaborate with clinicians and leverage cell and animal models to apply an integrative strategy combining molecular biology, genetics, behavior, and omics techniques. Ultimately, we aim to advance fundamental science and translate our findings into new diagnostic and treatment options for patients affected by neurological, kidney, and heart diseases.
Research Interests
Olfaction Disorders; Disease Models, Animal; Genetics, Medical; Cardiomyopathies; Nephrology; Neurology; Obesity; Translational Research, Biomedical; Drug Repositioning; Genomic Medicine
Selected 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 DG, Kurian S, Bellaver B, Ellis H, Kuboki A, Al-Naama A, Hasnah R, Venturin GT, Costa da Costa J, Venugopal N, Manoel D, Mennella J, Reisert J, Tordoff MG, Zimmer ER, Saraiva LR. Short-term consumption of highly processed diets varying in macronutrient content impair the sense of smell and brain metabolism in mice. Mol Metab 2024, 79: 101837. PMID: 37977411, DOI: 10.1016/j.molmet.2023.101837.
- Identifying candidate genes underlying isolated congenital anosmia.Kamarck ML, Trimmer C, Murphy NR, Gregory KM, Manoel D, Logan DW, Saraiva LR, Mainland JD. Identifying candidate genes underlying isolated congenital anosmia. Clin Genet 2024, 105: 376-385. PMID: 38148624, DOI: 10.1111/cge.14470.
- Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.Okashah S, Vasudeva D, El Jerbi A, Khodjet-El-Khil H, Al-Shafai M, Syed N, Kambouris M, Udassi S, Saraiva LR, Al-Saloos H, Udassi J, Al-Shafai KN. Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry. Genes (Basel) 2022, 13 PMID: 36011280, DOI: 10.3390/genes13081369.
- A 3D transcriptomics atlas of the mouse nose sheds light on the anatomical logic of smell.Ruiz Tejada Segura ML, Abou Moussa E, Garabello E, Nakahara TS, Makhlouf M, Mathew LS, Wang L, Valle F, Huang SSY, Mainland JD, Caselle M, Osella M, Lorenz S, Reisert J, Logan DW, Malnic B, Scialdone A, Saraiva LR. A 3D transcriptomics atlas of the mouse nose sheds light on the anatomical logic of smell. Cell Rep 2022, 38: 110547. PMID: 35320714, DOI: 10.1016/j.celrep.2022.110547.
- Clinical, 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 KA, Saraiva LR, Lemos MC. Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus. J Pers Med 2022, 12 PMID: 35055433, DOI: 10.3390/jpm12010118.
- Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.Kubo S, Fritz JM, Raquer-McKay HM, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman AD, Jing X, Farley TK, Park AY, Oler AJ, Charles AK, Makhlouf M, AbouMoussa EH, Hasnah R, Saraiva LR, Ganesan S, Al-Subaiey AA, Matthews H, Flano E, Lee HH, Freeman AF, Sefer AP, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo MJ. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease. Nat Immunol 2022, 23: 75-85. PMID: 34937930, DOI: 10.1038/s41590-021-01093-y.
- Inherited 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 YJ, Briand C, Moriya K, Ailal F, Avery DT, Markle J, Lim AI, Ogishi M, Yang R, Pelham S, Emam M, Migaud M, Deswarte C, Habib T, Saraiva LR, Moussa EA, 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 JP, Neven B, Abel L, Ma CS, Bousfiha AA, Marr N, Bustamante J, Liu K, Gros P, Geissmann F, Tangye SG, Casanova JL, Puel A. Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents. J Clin Invest 2021, 131 PMID: 34623332, DOI: 10.1172/JCI150143.
- Deconstructing the mouse olfactory percept through an ethological atlas.Manoel D, Makhlouf M, Arayata CJ, Sathappan A, Da'as S, Abdelrahman D, Selvaraj S, Hasnah R, Mainland JD, Gerkin RC, Saraiva LR. Deconstructing the mouse olfactory percept through an ethological atlas. Curr Biol 2021, 31: 2809-2818.e3. PMID: 33957076, DOI: 10.1016/j.cub.2021.04.020.
- Differential regulation of the immune system in a brain-liver-fats organ network during short-term fasting.Huang SSY, Makhlouf M, AbouMoussa EH, Ruiz Tejada Segura ML, Mathew LS, Wang K, Leung MC, Chaussabel D, Logan DW, Scialdone A, Garand M, Saraiva LR. Differential regulation of the immune system in a brain-liver-fats organ network during short-term fasting. Mol Metab 2020, 40: 101038. PMID: 32526449, DOI: 10.1016/j.molmet.2020.101038.
- A transcriptomic atlas of mammalian olfactory mucosae reveals an evolutionary influence on food odor detection in humans.Saraiva LR, Riveros-McKay F, Mezzavilla M, Abou-Moussa EH, Arayata CJ, Makhlouf M, Trimmer C, Ibarra-Soria X, Khan M, Van Gerven L, Jorissen M, Gibbs M, O'Flynn C, McGrane S, Mombaerts P, Marioni JC, Mainland JD, Logan DW. A transcriptomic atlas of mammalian olfactory mucosae reveals an evolutionary influence on food odor detection in humans. Sci Adv 2019, 5: eaax0396. PMID: 31392275, DOI: 10.1126/sciadv.aax0396.
- Adipocyte Accumulation in the Bone Marrow during Obesity and Aging Impairs Stem Cell-Based Hematopoietic and Bone Regeneration.Ambrosi TH, Scialdone A, Graja A, Gohlke S, Jank AM, Bocian C, Woelk L, Fan H, Logan DW, Schürmann A, Saraiva LR, Schulz TJ. Adipocyte Accumulation in the Bone Marrow during Obesity and Aging Impairs Stem Cell-Based Hematopoietic and Bone Regeneration. Cell Stem Cell 2017, 20: 771-784.e6. PMID: 28330582, DOI: 10.1016/j.stem.2017.02.009.
- Combinatorial effects of odorants on mouse behavior.Saraiva LR, Kondoh K, Ye X, Yoon KH, Hernandez M, Buck LB. Combinatorial effects of odorants on mouse behavior. Proc Natl Acad Sci U S A 2016, 113: E3300-6. PMID: 27208093, DOI: 10.1073/pnas.1605973113.
- Hierarchical deconstruction of mouse olfactory sensory neurons: from whole mucosa to single-cell RNA-seq.Saraiva LR, Ibarra-Soria X, Khan M, Omura M, Scialdone A, Mombaerts P, Marioni JC, Logan DW. Hierarchical deconstruction of mouse olfactory sensory neurons: from whole mucosa to single-cell RNA-seq. Sci Rep 2015, 5: 18178. PMID: 26670777, DOI: 10.1038/srep18178.
- High-throughput spatial mapping of single-cell RNA-seq data to tissue of origin.Achim K, Pettit JB, Saraiva LR, Gavriouchkina D, Larsson T, Arendt D, Marioni JC. High-throughput spatial mapping of single-cell RNA-seq data to tissue of origin. Nat Biotechnol 2015, 33: 503-9. PMID: 25867922, DOI: 10.1038/nbt.3209.
- High-affinity olfactory receptor for the death-associated odor cadaverine.Hussain A, Saraiva LR, Ferrero DM, Ahuja G, Krishna VS, Liberles SD, Korsching SI. High-affinity olfactory receptor for the death-associated odor cadaverine. Proc Natl Acad Sci U S A 2013, 110: 19579-84. PMID: 24218586, DOI: 10.1073/pnas.1318596110.
- A large-scale analysis of odor coding in the olfactory epithelium.Nara K, Saraiva LR, Ye X, Buck LB. A large-scale analysis of odor coding in the olfactory epithelium. J Neurosci 2011, 31: 9179-91. PMID: 21697369, DOI: 10.1523/JNEUROSCI.1282-11.2011.
- Positive Darwinian selection and the birth of an olfactory receptor clade in teleosts.Hussain A, Saraiva LR, Korsching SI. Positive Darwinian selection and the birth of an olfactory receptor clade in teleosts. Proc Natl Acad Sci U S A 2009, 106: 4313-8. PMID: 19237578, DOI: 10.1073/pnas.0803229106.
- A novel olfactory receptor gene family in teleost fish.Saraiva LR, Korsching SI. A novel olfactory receptor gene family in teleost fish. Genome Res 2007, 17: 1448-57. PMID: 17717047, DOI: 10.1101/gr.6553207.
- Caloric restriction reduces trabecular bone loss during aging and improves bone marrow adipocyte endocrine function in male mice.Rinne C, Soultoukis GA, Oveisi M, Leer M, Schmidt-Bleek O, Burkhardt LM, Bucher CH, Moussa EA, Makhlouf M, Duda GN, Saraiva LR, Schmidt-Bleek K, Schulz TJ. Caloric restriction reduces trabecular bone loss during aging and improves bone marrow adipocyte endocrine function in male mice. Front Endocrinol (Lausanne) 2024, 15: 1394263. PMID: 38904042, DOI: 10.3389/fendo.2024.1394263.
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Fakhro KA, Awwad J, Garibova S, Saraiva LR, Avella M. Conserved genes regulating human sex differentiation, gametogenesis and fertilization. J Transl Med 2024, 22: 473. PMID: 38764035, DOI: 10.1186/s12967-024-05162-2.
- Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar.Mohammed I, Selvaraj S, Ahmed WS, Al-Barazenji T, Hammad AS, Dauleh H, Saraiva LR, Al-Shafai M, Hussain K. Functional Characterization of Novel MC4R Variants Identified in Two Unrelated Patients with Morbid Obesity in Qatar. Int J Mol Sci 2023, 24 PMID: 38003551, DOI: 10.3390/ijms242216361.
- Genetic Variation and Sensory Perception of a Pediatric Formulation of Ibuprofen: Can a Medicine Taste Too Good for Some?Mennella JA, Kan M, Lowenthal ED, Saraiva LR, Mainland JD, Himes BE, Pepino MY. Genetic Variation and Sensory Perception of a Pediatric Formulation of Ibuprofen: Can a Medicine Taste Too Good for Some? Int J Mol Sci 2023, 24 PMID: 37685855, DOI: 10.3390/ijms241713050.
- The Neanderthal inside us.Saraiva LR. The Neanderthal inside us. Nat Rev Genet 2023, 24: 142. PMID: 36471017, DOI: 10.1038/s41576-022-00561-x.
- Genome-Wide RNA Tomography in the Mouse Whole Olfactory Mucosa.Moussa EA, Makhlouf M, Mathew LS, Saraiva LR. Genome-Wide RNA Tomography in the Mouse Whole Olfactory Mucosa. Methods Mol Biol 2023, 2710: 19-30. PMID: 37688721, DOI: 10.1007/978-1-0716-3425-7_2.
- The quality of energy- and macronutrient-balanced diets regulates host susceptibility to influenza in mice.Cootes TA, Bhattacharyya ND, Huang SSY, Daniel L, Bell-Anderson KS, Stifter SA, Chew T, Solon-Biet SM, Saraiva LR, Cai Y, Chen X, Simpson SJ, Feng CG. The quality of energy- and macronutrient-balanced diets regulates host susceptibility to influenza in mice. Cell Rep 2022, 41: 111638. PMID: 36384123, DOI: 10.1016/j.celrep.2022.111638.
- Odor blocking of stress hormone responses.Lee EJ, Saraiva LR, Hanchate NK, Ye X, Asher G, Ho J, Buck LB. Odor blocking of stress hormone responses. Sci Rep 2022, 12: 8773. PMID: 35610316, DOI: 10.1038/s41598-022-12663-x.
- A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism.Fadiga L, Lavrador M, Vicente N, Barros L, Gonçalves CI, Al-Naama A, Saraiva LR, Lemos MC. A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism. Int J Mol Sci 2022, 23 PMID: 35457241, DOI: 10.3390/ijms23084423.
- SysInflam HuDB, a Web Resource for Mining Human Blood Cells Transcriptomic Data Associated with Systemic Inflammatory Responses to Sepsis.Toufiq M, Huang SSY, Boughorbel S, Alfaki M, Rinchai D, Saraiva LR, Chaussabel D, Garand M. SysInflam HuDB, a Web Resource for Mining Human Blood Cells Transcriptomic Data Associated with Systemic Inflammatory Responses to Sepsis. J Immunol 2021, 207: 2195-2202. PMID: 34663591, DOI: 10.4049/jimmunol.2100697.
- Calcium Signaling Regulates Autophagy and Apoptosis.Sukumaran P, Nascimento Da Conceicao V, Sun Y, Ahamad N, Saraiva LR, Selvaraj S, Singh BB. Calcium Signaling Regulates Autophagy and Apoptosis. Cells 2021, 10 PMID: 34440894, DOI: 10.3390/cells10082125.
- Transcriptome and Literature Mining Highlight the Differential Expression of ERLIN1 in Immune Cells during Sepsis.Huang SSY, Toufiq M, Saraiva LR, Van Panhuys N, Chaussabel D, Garand M. Transcriptome and Literature Mining Highlight the Differential Expression of ERLIN1 in Immune Cells during Sepsis. Biology (Basel) 2021, 10 PMID: 34439987, DOI: 10.3390/biology10080755.
- Recent Smell Loss Is the Best Predictor of COVID-19 Among Individuals With Recent Respiratory Symptoms.Gerkin RC, Ohla K, Veldhuizen MG, Joseph PV, Kelly CE, Bakke AJ, Steele KE, Farruggia MC, Pellegrino R, Pepino MY, Bouysset C, Soler GM, Pereda-Loth V, Dibattista M, Cooper KW, Croijmans I, Di Pizio A, Ozdener MH, Fjaeldstad AW, Lin C, Sandell MA, Singh PB, Brindha VE, Olsson SB, Saraiva LR, Ahuja G, Alwashahi MK, Bhutani S, D'Errico A, Fornazieri MA, Golebiowski J, Dar Hwang L, Öztürk L, Roura E, Spinelli S, Whitcroft KL, Faraji F, Fischmeister FPS, Heinbockel T, Hsieh JW, Huart C, Konstantinidis I, Menini A, Morini G, Olofsson JK, Philpott CM, Pierron D, Shields VDC, Voznessenskaya VV, Albayay J, Altundag A, Bensafi M, Bock MA, Calcinoni O, Fredborg W, Laudamiel C, Lim J, Lundström JN, Macchi A, Meyer P, Moein ST, Santamaría E, Sengupta D, Rohlfs Dominguez P, Yanik H, Hummel T, Hayes JE, Reed DR, Niv MY, Munger SD, Parma V, GCCR Group Author. Recent Smell Loss Is the Best Predictor of COVID-19 Among Individuals With Recent Respiratory Symptoms. Chem Senses 2021, 46 PMID: 33367502, DOI: 10.1093/chemse/bjaa081.
- Odor coding in the mammalian olfactory epithelium.Kurian SM, Naressi RG, Manoel D, Barwich AS, Malnic B, Saraiva LR. Odor coding in the mammalian olfactory epithelium. Cell Tissue Res 2021, 383: 445-456. PMID: 33409650, DOI: 10.1007/s00441-020-03327-1.
- More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.Parma V, Ohla K, Veldhuizen MG, Niv MY, Kelly CE, Bakke AJ, Cooper KW, Bouysset C, Pirastu N, Dibattista M, Kaur R, Liuzza MT, Pepino MY, Schöpf V, Pereda-Loth V, Olsson SB, Gerkin RC, Rohlfs Domínguez P, Albayay J, Farruggia MC, Bhutani S, Fjaeldstad AW, Kumar R, Menini A, Bensafi M, Sandell M, Konstantinidis I, Di Pizio A, Genovese F, Öztürk L, Thomas-Danguin T, Frasnelli J, Boesveldt S, Saatci Ö, Saraiva LR, Lin C, Golebiowski J, Hwang LD, Ozdener MH, Guàrdia MD, Laudamiel C, Ritchie M, Havlícek J, Pierron D, Roura E, Navarro M, Nolden AA, Lim J, Whitcroft KL, Colquitt LR, Ferdenzi C, Brindha EV, Altundag A, Macchi A, Nunez-Parra A, Patel ZM, Fiorucci S, Philpott CM, Smith BC, Lundström JN, Mucignat C, Parker JK, van den Brink M, Schmuker M, Fischmeister FPS, Heinbockel T, Shields VDC, Faraji F, Santamaría E, Fredborg WEA, Morini G, Olofsson JK, Jalessi M, Karni N, D'Errico A, Alizadeh R, Pellegrino R, Meyer P, Huart C, Chen B, Soler GM, Alwashahi MK, Welge-Lüssen A, Freiherr J, de Groot JHB, Klein H, Okamoto M, Singh PB, Hsieh JW, GCCR Group Author, Reed DR, Hummel T, Munger SD, Hayes JE. More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis. Chem Senses 2020, 45: 609-622. PMID: 32564071, DOI: 10.1093/chemse/bjaa041.
- Interspecific variation of olfactory preferences in flies, mice, and humans.Manoel D, Makhlouf M, Scialdone A, Saraiva LR. Interspecific variation of olfactory preferences in flies, mice, and humans. Chem Senses 2019, 44: 7-9. PMID: 30445540, DOI: 10.1093/chemse/bjy074.
- Variation in olfactory neuron repertoires is genetically controlled and environmentally modulated.Ibarra-Soria X, Nakahara TS, Lilue J, Jiang Y, Trimmer C, Souza MA, Netto PH, Ikegami K, Murphy NR, Kusma M, Kirton A, Saraiva LR, Keane TM, Matsunami H, Mainland J, Papes F, Logan DW. Variation in olfactory neuron repertoires is genetically controlled and environmentally modulated. Elife 2017, 6 PMID: 28438259, DOI: 10.7554/eLife.21476.
- Heterogeneity of hypothalamic pro-opiomelanocortin-expressing neurons revealed by single-cell RNA sequencing.Lam BYH, Cimino I, Polex-Wolf J, Nicole Kohnke S, Rimmington D, Iyemere V, Heeley N, Cossetti C, Schulte R, Saraiva LR, Logan DW, Blouet C, O'Rahilly S, Coll AP, Yeo GSH. Heterogeneity of hypothalamic pro-opiomelanocortin-expressing neurons revealed by single-cell RNA sequencing. Mol Metab 2017, 6: 383-392. PMID: 28462073, DOI: 10.1016/j.molmet.2017.02.007.
- Computational assignment of cell-cycle stage from single-cell transcriptome data.Scialdone A, Natarajan KN, Saraiva LR, Proserpio V, Teichmann SA, Stegle O, Marioni JC, Buettner F. Computational assignment of cell-cycle stage from single-cell transcriptome data. Methods 2015, 85: 54-61. PMID: 26142758, DOI: 10.1016/j.ymeth.2015.06.021.
- Molecular and neuronal homology between the olfactory systems of zebrafish and mouse.Saraiva LR, Ahuja G, Ivandic I, Syed AS, Marioni JC, Korsching SI, Logan DW. Molecular and neuronal homology between the olfactory systems of zebrafish and mouse. Sci Rep 2015, 5: 11487. PMID: 26108469, DOI: 10.1038/srep11487.
- Olfactory receptor patterning in a higher primate.Horowitz LF, Saraiva LR, Kuang D, Yoon KH, Buck LB. Olfactory receptor patterning in a higher primate. J Neurosci 2014, 34: 12241-52. PMID: 25209267, DOI: 10.1523/JNEUROSCI.1779-14.2014.
- The olfactory transcriptomes of mice.Ibarra-Soria X, Levitin MO, Saraiva LR, Logan DW. The olfactory transcriptomes of mice. PLoS Genet 2014, 10: e1004593. PMID: 25187969, DOI: 10.1371/journal.pgen.1004593.
- Crypt neurons express a single V1R-related ora gene.Oka Y, Saraiva LR, Korsching SI. Crypt neurons express a single V1R-related ora gene. Chem Senses 2012, 37: 219-27. PMID: 22038944, DOI: 10.1093/chemse/bjr095.
- The fifth class of Galpha proteins.Oka Y, Saraiva LR, Kwan YY, Korsching SI. The fifth class of Galpha proteins. Proc Natl Acad Sci U S A 2009, 106: 1484-9. PMID: 19164534, DOI: 10.1073/pnas.0809420106.
- Structural and functional diversification in the teleost S100 family of calcium-binding proteins.Kraemer AM, Saraiva LR, Korsching SI. Structural and functional diversification in the teleost S100 family of calcium-binding proteins. BMC Evol Biol 2008, 8: 48. PMID: 18275604, DOI: 10.1186/1471-2148-8-48.